%% Books
@book{fds371013,
Author = {Haga, SB},
Title = {The book of genes and genomes},
Pages = {1-236},
Year = {2022},
Month = {January},
ISBN = {9780387709154},
url = {http://dx.doi.org/10.1007/978-0-387-70916-1},
Abstract = {The Book of Genes & Genomes presents a concise overview of
the advances in genetics and genomics and provide the
unfamiliar reader with a succinct description of many of the
applications and implications of this field. Given the
substantial investment in genetics and genomics over the
past several decades and the many recent discoveries and
developments, this book will help the reader begin to
understand the importance of genetics and genomics to us
all. This exciting new title includes information on how
genetics and genomics has advanced our understanding of
health and medicine, evolution, and biology, as well as how
they are pushing the boundaries of ethics and social values.
Assumes no prior knowledge on the part of the reader; Easy
to understand writing style, enabling novices to read and
speak the "language" of genes and genomes; Inclusion of
case-studies that depict how genes and genomics have
advanced understanding of health, medicine, evolution and
biology, but juxtaposed to ethics and social values;
Recommended reading offered to facilitate self study; Clear,
up to date and affordable.},
Doi = {10.1007/978-0-387-70916-1},
Key = {fds371013}
}
%% Journal Articles
@article{fds372790,
Author = {Haga, SB},
Title = {The Critical Role of Pharmacists in the Clinical Delivery of
Pharmacogenetics in the U.S.},
Journal = {Pharmacy (Basel)},
Volume = {11},
Number = {5},
Pages = {144-144},
Publisher = {MDPI AG},
Year = {2023},
Month = {September},
url = {http://dx.doi.org/10.3390/pharmacy11050144},
Abstract = {Since the rebirth of pharmacogenomics (PGx) in the 1990s and
2000s, with new discoveries of genetic variation underlying
adverse drug response and new analytical technologies such
as sequencing and microarrays, there has been much interest
in the clinical application of PGx testing. The early
involvement of pharmacists in clinical studies and the
establishment of organizations to support the dissemination
of information about PGx variants have naturally resulted in
leaders in clinical implementation. This paper presents an
overview of the evolving role of pharmacists, and discusses
potential challenges and future paths, primarily focused in
the U.S. Pharmacists have positioned themselves as leaders
in clinical PGx testing, and will prepare the next
generation to utilize PGx testing in their scope of
practice.},
Doi = {10.3390/pharmacy11050144},
Key = {fds372790}
}
@article{fds369865,
Author = {Haga, SB and Orlando, LA},
Title = {Expanding Family Health History to Include Family Medication
History.},
Journal = {J Pers Med},
Volume = {13},
Number = {3},
Pages = {410},
Publisher = {MDPI AG},
Year = {2023},
Month = {February},
url = {http://dx.doi.org/10.3390/jpm13030410},
Abstract = {The collection of family health history (FHH) is an
essential component of clinical practice and an important
piece of data for patient risk assessment. However, family
history data have generally been limited to diseases and
have not included medication history. Family history was a
key component of early pharmacogenetic research, confirming
the role of genes in drug response. With the substantial
number of known pharmacogenes, many affecting response to
commonly prescribed medications, and the availability of
clinical pharmacogenetic (PGx) tests and guidelines for
interpretation, the collection of family medication history
can inform testing decisions. This paper explores the roots
of family-based pharmacogenetic studies to confirm the role
of genes in these complex phenotypes and the benefits and
challenges of collecting family medication history as part
of family health history intake.},
Doi = {10.3390/jpm13030410},
Key = {fds369865}
}
@article{fds367816,
Author = {Haga, SB and Chung, WK and Cubano, LA and Curry, TB and Empey, PE and Ginsburg, GS and Mangold, K and Miyake, CY and Prakash, SK and Ramsey,
LB and Rowley, R and Rohrer Vitek and CR and Skaar, TC and Wynn, J and Manolio, TA},
Title = {Development of Competency-based Online Genomic Medicine
Training (COGENT).},
Journal = {Per Med},
Volume = {20},
Number = {1},
Pages = {55-64},
Year = {2023},
Month = {January},
url = {http://dx.doi.org/10.2217/pme-2022-0101},
Abstract = {The fields of genetics and genomics have greatly expanded
across medicine through the development of new technologies
that have revealed genetic contributions to a wide array of
traits and diseases. Thus, the development of widely
available educational resources for all healthcare providers
is essential to ensure the timely and appropriate
utilization of genetics and genomics patient care. In 2020,
the National Human Genome Research Institute released a call
for new proposals to develop accessible, sustainable online
education for health providers. This paper describes the
efforts of the six teams awarded to reach the goal of
providing genetic and genomic training modules that are
broadly available for busy clinicians.},
Doi = {10.2217/pme-2022-0101},
Key = {fds367816}
}
@article{fds367438,
Author = {Haga, SB},
Title = {Conference Report: NHGRI Research Training and Career
Development Annual Meeting.},
Journal = {Per Med},
Year = {2022},
Month = {October},
url = {http://dx.doi.org/10.2217/pme-2022-0095},
Abstract = {Since 2016, the National Human Genome Research Institute of
the US NIH has convened a meeting for their trainees.
Training programs supported by the Institute are located
throughout the US and provide funding to trainees from the
undergraduate to the postdoctoral and junior faculty levels.
The annual training meeting provides trainees with a novel
opportunity to network, learn about a wide range of genomic
research and gain skills and information to support their
educational and career path in genomic research. The
pandemic forced a transition to virtual meetings in 2020 and
2021, but the 2022 meeting was convened as a hybrid format,
with 383 attendees (59% in-person) in Durham, NC,
US.},
Doi = {10.2217/pme-2022-0095},
Key = {fds367438}
}
@article{fds365707,
Author = {Sperber, NR and Cragun, D and Roberts, MC and Bendz, LM and Ince, P and Gonzales, S and Haga, SB and Wu, RR and Petry, NJ and Ramsey, L and Uber,
R},
Title = {A Mixed-Methods Protocol to Identify Best Practices for
Implementing Pharmacogenetic Testing in Clinical
Settings.},
Journal = {J Pers Med},
Volume = {12},
Number = {8},
Year = {2022},
Month = {August},
url = {http://dx.doi.org/10.3390/jpm12081313},
Abstract = {Using a patient's genetic information to inform medication
prescriptions can be clinically effective; however, the
practice has not been widely implemented. Health systems
need guidance on how to engage with providers to improve
pharmacogenetic test utilization. Approaches from the field
of implementation science may shed light on the complex
factors affecting pharmacogenetic test use in real-world
settings and areas to target to improve utilization. This
paper presents an approach to studying the application of
precision medicine that utilizes mixed qualitative and
quantitative methods and implementation science frameworks
to understand which factors or combinations consistently
account for high versus low utilization of pharmocogenetic
testing. This approach involves two phases: (1) collection
of qualitative and quantitative data from providers-the
cases-at four clinical institutions about their experiences
with, and utilization of, pharmacogenetic testing to
identify salient factors; and (2) analysis using a
Configurational Comparative Method (CCM), using a
mathematical algorithm to identify the minimally necessary
and sufficient factors that distinguish providers who have
higher utilization from those with low utilization.
Advantages of this approach are that it can be used for
small to moderate sample sizes, and it accounts for
conditions found in real-world settings by demonstrating how
they coincide to affect utilization.},
Doi = {10.3390/jpm12081313},
Key = {fds365707}
}
@article{fds362171,
Author = {Bond, SJ and Parikh, N and Majmudar, S and Pin, S and Wang, C and Willis,
L and Haga, SB},
Title = {A Systematic Review of the Scope of Study of mHealth
Interventions for Wellness and Related Challenges in
Pediatric and Young Adult Populations.},
Journal = {Adolesc Health Med Ther},
Volume = {13},
Pages = {23-38},
Year = {2022},
url = {http://dx.doi.org/10.2147/AHMT.S342811},
Abstract = {BACKGROUND: Despite the purported advantages and potential
efficacy of mHealth interventions to promote wellness in
children, adolescents, and young adults, it is not clear
what areas have been explored and the challenges reported in
the biomedical literature. METHODS: We conducted a scoping
review of publications between 2015 and 2019. RESULTS: We
identified 54 papers that met our inclusion criteria.
Studies were conducted in 21 countries and ranged in size
from six to 9851 participants (median: 184). A total of 41%
of studies enrolled adolescents only (n = 19). Of the seven
types of mHealth interventions identified, apps were the
most common intervention (59%; n = 32) evaluated and 44% of
the studies evaluated two or more interventions. The most
common topic of the studies reviewed was sexual and
reproductive health (24%; n = 13). CONCLUSION: Most
pediatric mHealth intervention studies are conducted in
adolescents in large part, and sexual and reproductive
health is the most commonly studied topic. With the easy and
widespread accessibility to smartphone technology, the use
of mobile apps for wellness interventions will likely
continue to expand to other wellness topics.},
Doi = {10.2147/AHMT.S342811},
Key = {fds362171}
}
@article{fds359105,
Author = {Sharma, Y and Cox, L and Kruger, L and Channamsetty, V and Haga,
SB},
Title = {Evaluating Primary Care Providers' Readiness for Delivering
Genetic and Genomic Services to Underserved
Populations.},
Journal = {Public health genomics},
Pages = {1-10},
Year = {2021},
Month = {September},
url = {http://dx.doi.org/10.1159/000518415},
Abstract = {<h4>Introduction</h4>Increased genomics knowledge and access
are advancing precision medicine and care delivery. With the
translation of precision medicine across health care,
genetics and genomics will play a greater role in primary
care services. Health disparities and inadequate
representation of racial and ethnically diverse groups
threaten equitable access for those historically
underserved. Health provider awareness, knowledge, and
perceived importance are important determinants of the
utilization of genomic applications.<h4>Methods</h4>We
evaluated the readiness of primary care providers at a
Federally Qualified Health Center, the Community Health
Center, Inc. (CHCI) for delivering genetic and genomic
testing to underserved populations. Online survey questions
focused on providers' education and training in basic and
clinical genetics, familiarity with current genetic tests,
and needs for incorporating genetics and genomics into their
current practice.<h4>Results</h4>Fifty of 77 (65%) primary
care providers responded to the survey. Less than half
received any training in basic or clinical genetics (40%),
were familiar with specific genetic tests (36%), or felt
confident with collecting family health history (44%), and
70% believed patients would benefit from genetic
testing.<h4>Conclusion</h4>Despite knowledge gaps,
respondents recognized the value and need to bring these
services to their patients, though would like more education
on applying genetics and genomics into their practice, and
more training about discussing risk factors associated with
race or ethnicity. We provide further evidence of the need
for educational resources and standardized guidelines for
providers caring for underserved populations to optimize
appropriate use and referral of genetic and genomic services
and to reduce disparities in care.},
Doi = {10.1159/000518415},
Key = {fds359105}
}
@article{fds355090,
Author = {Kantor, A and Haga, SB},
Title = {The Potential Benefit of Expedited Development and Approval
Programs in Precision Medicine.},
Journal = {J Pers Med},
Volume = {11},
Number = {1},
Pages = {45},
Year = {2021},
Month = {January},
url = {http://dx.doi.org/10.3390/jpm11010045},
Abstract = {BACKGROUND: Increased understanding of the molecular causes
of disease has begun to fulfill the promise of precision
medicine with the development of targeted drugs,
particularly for serious diseases with unmet needs. The drug
approval regulatory process is a critical component to the
continued growth of precision medicine drugs and devices. To
facilitate the development and approval process of drugs for
serious unmet needs, four expedited approval programs have
been developed in the US: priority review, accelerated
approval, fast track, and breakthrough therapy programs.
METHODS: To determine if expedited approval programs are
fulfilling the intended goals, we reviewed drug approvals by
the US Food and Drug Administration (FDA) between 2011 and
2017 for new molecular entities (NMEs). RESULTS: From 2011
through 2017, the FDA approved 250 NMEs, ranging from 27
approvals in 2013 to 46 in 2017. The NME approvals spanned
22 different disease classes; almost one-third of all NMEs
were for oncology treatments. CONCLUSIONS: As these pathways
are utilized more, additional legislative changes may be
needed to re-align incentives to promote continued
development of innovative drugs for serious unmet needs in a
safe, efficacious, and affordable manner.},
Doi = {10.3390/jpm11010045},
Key = {fds355090}
}
@article{fds359624,
Author = {Haga, SB},
Title = {Revisiting Secondary Information Related to Pharmacogenetic
Testing.},
Journal = {Frontiers in genetics},
Volume = {12},
Pages = {741395},
Year = {2021},
Month = {January},
url = {http://dx.doi.org/10.3389/fgene.2021.741395},
Abstract = {Incidental or secondary findings have been a major part of
the discussion of genomic medicine research and clinical
applications. For pharmacogenetic (PGx) testing, secondary
findings arise due to the pleiotropic effects of
pharmacogenes, often related to their endogenous functions.
Unlike the guidelines that have been developed for whole
exome or genome sequencing applications for management of
secondary findings (though slightly different from PGx
testing in that these refer to detection of variants in
multiple genes, some with clinical significance and
actionability), no corresponding guidelines have been
developed for PGx clinical laboratories. Nonetheless,
patient and provider education will remain key components of
any PGx testing program to minimize adverse responses
related to secondary findings.},
Doi = {10.3389/fgene.2021.741395},
Key = {fds359624}
}
@article{fds357928,
Author = {Haga, SB and Mills, R and Moaddeb, J and Liu, Y and Voora,
D},
Title = {Delivery of Pharmacogenetic Testing with or without
Medication Therapy Management in a Community Pharmacy
Setting.},
Journal = {Pharmacogenomics and personalized medicine},
Volume = {14},
Pages = {785-796},
Year = {2021},
Month = {January},
url = {http://dx.doi.org/10.2147/pgpm.s314961},
Abstract = {<h4>Objective</h4>The delivery of pharmacogenetic (PGx)
testing has primarily been through clinical and hospital
settings. We conducted a study to explore the feasibility of
delivering PGx testing through community pharmacies, a
less-studied setting.<h4>Methods</h4>We conducted a cluster
randomized trial of community pharmacies in North Carolina
through two approaches: the provision of PGx testing alone
or PGx testing with medication therapy management
(MTM).<h4>Results</h4>A total of 150 patient participants
were enrolled at 17 pharmacies and reported high
satisfaction with their testing experience. Participants in
the PGx plus MTM arm were more likely to recall a higher
number of results (p=0.04) and more likely to clearly
understand their choices for prevention or early detection
of side effects (p=0.01). A medication or dose change based
on the PGx results was made for 8.7% of participants.<h4>Conclusion</h4>Limited
differences were observed in the provision of PGx testing as
a standalone test or combined with MTM. A limited number of
treatment changes were made based on PGx test results.
Patient acceptance of PGx testing offered through the
community pharmacy was very high, but the addition of MTM
did not impact patient-reported perceptions about PGx
testing or medication adherence.},
Doi = {10.2147/pgpm.s314961},
Key = {fds357928}
}
@article{fds357927,
Author = {Haga, SB and Mills, R and Moaddeb, J and Liu, Y and Voora,
D},
Title = {Independent Community Pharmacists' Experience in Offering
Pharmacogenetic Testing.},
Journal = {Pharmgenomics Pers Med},
Volume = {14},
Pages = {877-886},
Year = {2021},
url = {http://dx.doi.org/10.2147/PGPM.S314972},
Abstract = {OBJECTIVE: This study assessed pharmacist experiences with
delivering pharmacogenetic (PGx) testing in independent
community pharmacies. METHODS: We conducted a cluster
randomized trial of independent community pharmacies in
North Carolina randomized to provide either PGx testing as a
standalone service or integrated into medication therapy
management (MTM) services. Surveys and pharmacist data about
the delivery of PGx testing were collected. Semi-structured
interviews were also conducted. RESULTS: A total of 36
pharmacists participated in the study from 22 pharmacies.
Sixteen pharmacists completed the pre-study and post-study
surveys, and four pharmacists completed the semi-structured
interviews. Thirty-one percent (11/36) of pharmacists had
had some education in personalized medicine or PGx prior to
the study. The only outcome that differed by study arm was
the use of educational resources, with significantly higher
utilization in the PGx testing only arm (p=0.007). Overall,
compared to the pre-study assessment, pharmacists' knowledge
about PGx significantly improved post-study (p=0.018). In
the post-study survey, almost all pharmacists indicated that
they felt qualified/able to provide PGx testing at their
pharmacy. While 75% of pharmacists indicated that they may
continue to provide PGx testing at their pharmacy after the
study, the major concerns were lack of reimbursement for PGx
counseling and consultation given the necessary time
required. CONCLUSION: Our findings demonstrated a positive
experience with delivering PGx testing in the community
pharmacy setting with little difference in pharmacists'
experiences in providing PGx testing with or without MTM.
Pharmacists were confident in their ability to provide PGx
testing and were interested in continuing to offer testing,
though sustained delivery may be challenged by lack of
prescribing provider engagement and reimbursement.},
Doi = {10.2147/PGPM.S314972},
Key = {fds357927}
}
@article{fds352658,
Author = {Haga, SB},
Title = {Individualizing pharmacogenomic test results in the context
of the microbiome.},
Journal = {Per Med},
Volume = {17},
Number = {6},
Pages = {459-468},
Year = {2020},
Month = {November},
url = {http://dx.doi.org/10.2217/pme-2020-0077},
Abstract = {The field of pharmacogenetic testing was hailed as one of
the early successful clinical applications arising from the
personalized (or precision) medicine revolution. Substantial
progress has been made to identify genes and genetic
variants involved in drug response and establish clinical
implementation programs. Yet, drug response is a complex
trait and recent work has highlighted the key role played by
the gut microbiome. As the study of the gut microbiome and
pharmacogenetics converge, it may be possible to generate
more precise predictions of drug response and improve health
outcomes to treatments. Substantial effort will be needed to
understand the dynamic impact of the microbiome and the
interplay with host genetics and how to implement expanded
pharmacogenetic testing.},
Doi = {10.2217/pme-2020-0077},
Key = {fds352658}
}
@article{fds351203,
Author = {Brown, L and Eum, S and Haga, SB and Strawn, JR and Zierhut,
H},
Title = {Clinical Utilization of Pharmacogenetics in Psychiatry -
Perspectives of Pharmacists, Genetic Counselors,
Implementation Science, Clinicians, and Industry.},
Journal = {Pharmacopsychiatry},
Volume = {53},
Number = {4},
Pages = {162-173},
Year = {2020},
Month = {July},
url = {http://dx.doi.org/10.1055/a-0975-9595},
Abstract = {INTRODUCTION: The use of pharmacogenomic (PGx) testing to
guide decisions and improve patient outcomes has increased
in recent years. PGx testing represents a decision support
tool that may inform dosing, increase the likelihood of
treatment response, and identify patients at risk for
medication side effects. METHODS: This is a narrative review
of utilization of PGx testing in psychiatry from
stakeholders including, pharmacists, genetic counselors,
implementation scientists, industry, and clinicians.
RESULTS: While many limitations exist to streamline use of
PGx testing in psychiatry, various stakeholders are crucial
to clinical implementation. DISCUSSION: PGx testing can
assist in medication selection and improve patient outcomes;
however, more data are needed to understand when and how to
incorporate PGx testing into psychiatric
practice.},
Doi = {10.1055/a-0975-9595},
Key = {fds351203}
}
@article{fds349880,
Author = {Haga, SB},
Title = {Toward digital-based interventions for medication adherence
and safety.},
Journal = {Expert Opin Drug Saf},
Volume = {19},
Number = {6},
Pages = {735-746},
Year = {2020},
Month = {June},
url = {http://dx.doi.org/10.1080/14740338.2020.1764935},
Abstract = {INTRODUCTION: Adherence to the prescribed use of medications
is a major problem for many patients. Whether intentional or
unintentional, the failure to take medications as prescribed
results in an array of health problems, hospitalizations,
and increased health expenditures. AREAS COVERED: The paper
reviews the different types of interventions to promote the
appropriate use of medications from provider-based to
digital-based interventions. These interventions often
combine passive and interactive approaches and may include
bio-surveillance/monitoring. Many studies have evaluated
these interventions in a variety of conditions and patient
population, demonstrating mixed outcomes. EXPERT OPINION:
The complexity of the underlying causes of poor medication
adherence may warrant personalized interventions that
combine passive/interactive and personal/digital options.
Enriching patient trials may enable observation of larger
effect sizes.},
Doi = {10.1080/14740338.2020.1764935},
Key = {fds349880}
}
@article{fds349322,
Author = {Haga, SB and Orlando, LA},
Title = {The enduring importance of family health history in the era
of genomic medicine and risk assessment.},
Journal = {Per Med},
Volume = {17},
Number = {3},
Pages = {229-239},
Year = {2020},
Month = {May},
url = {http://dx.doi.org/10.2217/pme-2019-0091},
Abstract = {Improving disease risk prediction and tailoring preventive
interventions to patient risk factors is one of the primary
goals of precision medicine. Family health history is the
traditional approach to quickly gather genetic and
environmental data relevant to the patient. While the
utility of family health history is well-documented, its
utilization is variable, in part due to lack of patient and
provider knowledge and incomplete or inaccurate data. With
the advances and reduced costs of sequencing technologies,
comprehensive sequencing tests can be performed as a risk
assessment tool. We provide an overview of each of these
risk assessment approaches, the benefits and limitations and
implementation challenges.},
Doi = {10.2217/pme-2019-0091},
Key = {fds349322}
}
@article{fds349192,
Author = {Haga, SB and Shaw, R and Kneifel, C and Bond, SJ and Ginsburg,
GS},
Title = {Promoting Wellness Through Mobile Health Technology in a
College Student Population: Protocol Development and Pilot
Study.},
Journal = {JMIR Res Protoc},
Volume = {9},
Number = {4},
Pages = {e16474},
Year = {2020},
Month = {April},
url = {http://dx.doi.org/10.2196/16474},
Abstract = {BACKGROUND: The health and well-being of college students
has garnered widespread attention and concern in recent
years. At the same time, the expansion and evaluation of
digital technologies has grown in recent years for different
target populations. OBJECTIVE: This protocol aims to
describe a pilot feasibility study on wearables to assess
student interest and to gather baseline data from college
freshmen, for the academic year 2019 to 2020. METHODS: All
full-time college freshmen residing in a single residence
hall were eligible to participate. Study invitations were
sent by post and email 5 weeks prior to move-in. Web-based
enrollment and in-person attendance at study orientation
sessions were mandatory. We provided the incoming freshmen
with a wearable and study app. Wearable data and weekly
survey data will be collected through the study app and
analyzed. We have collected demographic, enrollment, and
attrition data and the number and type of support requests
from students. RESULTS: The planning phase of the WearDuke
initiative was completed in 2018 to 2019, and the pilot
study was launched in July 2019. Of the 175 students
invited, 120 enrolled and 114 started the study; 107
students remained active participants till the end of the
fall semester. For Apple Watch participants (the majority of
study population), weekly survey completion rates ranged
from 70% (74/106) to 96% (95/99). CONCLUSIONS: Halfway
through the pilot, we noticed that the initiative has been
received positively by the students with minimal attrition.
The short- and long-term benefits may be substantial for
students, the campus, the utilization of health services,
and long-term health. INTERNATIONAL REGISTERED REPORT
IDENTIFIER (IRRID): DERR1-10.2196/16474.},
Doi = {10.2196/16474},
Key = {fds349192}
}
@article{fds357886,
Author = {Phillips, K and Haga, S},
Title = {Precision Medicine in Primary Care: Bespoke. Genetic and
Genomic. And Maybe Not Ready},
Journal = {Managed Care},
Volume = {28},
Number = {12},
Pages = {30-33},
Year = {2019},
Month = {December},
Abstract = {With genomic sequencing on the rise and patients having more
say about their treatment, two hot areas—predictive
genetic testing and pharmacogenomics— promise to extend
“personalized” medicine beyond cancer care. But will
this precision improve outcomes and pay for
itself?},
Key = {fds357886}
}
@article{fds346417,
Author = {Haga, SB},
Title = {Managing Increased Accessibility to Pharmacogenomic
Data.},
Journal = {Clin Pharmacol Ther},
Volume = {106},
Number = {5},
Pages = {922-924},
Year = {2019},
Month = {November},
url = {http://dx.doi.org/10.1002/cpt.1602},
Doi = {10.1002/cpt.1602},
Key = {fds346417}
}
@article{fds365961,
Author = {Haga, SB and Shaw, R and Kneifel, C and Bond, SJ and Ginsburg,
GS},
Title = {Promoting Wellness Through Mobile Health Technology in a
College Student Population: Protocol Development and Pilot
Study (Preprint)},
Year = {2019},
Month = {October},
url = {http://dx.doi.org/10.2196/preprints.16474},
Abstract = {<sec> <title>BACKGROUND</title> <p>The health and well-being
of college students has garnered widespread attention and
concern in recent years. At the same time, the expansion and
evaluation of digital technologies has grown in recent years
for different target populations.</p> </sec> <sec>
<title>OBJECTIVE</title> <p>This protocol aims to describe a
pilot feasibility study on wearables to assess student
interest and to gather baseline data from college freshmen,
for the academic year 2019 to 2020.</p> </sec> <sec>
<title>METHODS</title> <p>All full-time college freshmen
residing in a single residence hall were eligible to
participate. Study invitations were sent by post and email 5
weeks prior to move-in. Web-based enrollment and in-person
attendance at study orientation sessions were mandatory. We
provided the incoming freshmen with a wearable and study
app. Wearable data and weekly survey data will be collected
through the study app and analyzed. We have collected
demographic, enrollment, and attrition data and the number
and type of support requests from students.</p> </sec> <sec>
<title>RESULTS</title> <p>The planning phase of the WearDuke
initiative was completed in 2018 to 2019, and the pilot
study was launched in July 2019. Of the 175 students
invited, 120 enrolled and 114 started the study; 107
students remained active participants till the end of the
fall semester. For Apple Watch participants (the majority of
study population), weekly survey completion rates ranged
from 70% (74/106) to 96% (95/99).</p> </sec> <sec>
<title>CONCLUSIONS</title> <p>Halfway through the pilot, we
noticed that the initiative has been received positively by
the students with minimal attrition. The short- and
long-term benefits may be substantial for students, the
campus, the utilization of health services, and long-term
health.</p> </sec> <sec> <title>INTERNATIONAL REGISTERED
REPORT</title> <p>DERR1-10.2196/16474</p>
</sec>},
Doi = {10.2196/preprints.16474},
Key = {fds365961}
}
@article{fds346576,
Author = {Weitzel, KW and Duong, BQ and Arwood, MJ and Owusu-Obeng, A and Abul-Husn, NS and Bernhardt, BA and Decker, B and Denny, JC and Dietrich, E and Gums, J and Madden, EB and Pollin, TI and Wu, RR and Haga,
SB and Horowitz, CR},
Title = {A stepwise approach to implementing pharmacogenetic testing
in the primary care setting.},
Journal = {Pharmacogenomics},
Volume = {20},
Number = {15},
Pages = {1103-1112},
Year = {2019},
Month = {October},
url = {http://dx.doi.org/10.2217/pgs-2019-0053},
Abstract = {Pharmacogenetic testing can help identify primary care
patients at increased risk for medication toxicity, poor
response or treatment failure and inform drug therapy. While
testing availability is increasing, providers are unprepared
to routinely use pharmacogenetic testing for clinical
decision-making. Practice-based resources are needed to
overcome implementation barriers for pharmacogenetic testing
in primary care.The NHGRI's IGNITE I Network (Implementing
GeNomics In pracTicE; www.ignite-genomics.org) explored
practice models, challenges and implementation barriers for
clinical pharmacogenomics. Based on these experiences, we
present a stepwise approach pharmacogenetic testing in
primary care: patient identification; pharmacogenetic test
ordering; interpretation and application of test results,
and patient education. We present clinical factors to
consider, test-ordering processes and resources, and provide
guidance to apply test results and counsel patients.
Practice-based resources such as this stepwise approach to
clinical decision-making are important resources to equip
primary care providers to use pharmacogenetic
testing.},
Doi = {10.2217/pgs-2019-0053},
Key = {fds346576}
}
@article{fds343608,
Author = {Haga, SB},
Title = {First Responder to Genomic Information: A Guide for Primary
Care Providers.},
Journal = {Mol Diagn Ther},
Volume = {23},
Number = {4},
Pages = {459-466},
Year = {2019},
Month = {August},
url = {http://dx.doi.org/10.1007/s40291-019-00407-z},
Abstract = {With rapid advances in genetics and genomics, the
commercialization and access to new applications has become
more widespread and omnipresent throughout biomedical
research. Thus, increasingly, more patients will have
personal genomic information they may share with primary
care providers (PCPs) to better understand the clinical
significance of the data. To be able to respond to patient
inquiries about genomic data, variant interpretation,
disease risk, and other issues, PCPs will need to be able to
increase or refresh their awareness about genetics and
genomics, and identify reliable resources to use or refer
patients. While provider educational efforts have increased,
with the rapid advances in the field, ongoing efforts will
be needed to prepare PCPs to manage patient needs, integrate
results into care, and refer as indicated.},
Doi = {10.1007/s40291-019-00407-z},
Key = {fds343608}
}
@article{fds345896,
Author = {Villegas, C and Haga, SB},
Title = {Access to Genetic Counselors in the Southern United
States.},
Journal = {J Pers Med},
Volume = {9},
Number = {3},
Pages = {E33},
Year = {2019},
Month = {July},
url = {http://dx.doi.org/10.3390/jpm9030033},
Abstract = {The expansion of genetic and genomic testing across medical
specialties and the changing workforce demographics of
certified genetic counselors (CGCs) have led to concerns of
a workforce shortage. We assessed the number of genetic
counselors working in the Southern United States-a rural and
medically underserved region-using various online and
professional resources. We identified 683 practicing genetic
counselors across the Southern U.S. and 160 specializing in
prenatal genetics. CGCs were concentrated in urban areas;
counties with a CGC had a significantly higher proportion of
minority residents and median household income than counties
without a CGC. There is an average of 2.97 prenatal CGCs per
5000 high-risk births in the South. Alternative delivery
models are needed to increase access to counseling services
in the Southern U.S., particularly for low income households
and those of high risk pregnancies. Increased provider
education and patient educational materials can help
facilitate informed decision-making in prenatal settings as
genetic technologies gain a stronger foothold and bring
value to medical practice.},
Doi = {10.3390/jpm9030033},
Key = {fds345896}
}
@article{fds343638,
Author = {Haga, SB and Liu, Y},
Title = {Patient characteristics, experiences and perceived value of
pharmacogenetic testing from a single testing
laboratory.},
Journal = {Pharmacogenomics},
Volume = {20},
Number = {8},
Pages = {581-587},
Year = {2019},
Month = {June},
url = {http://dx.doi.org/10.2217/pgs-2019-0006},
Abstract = {Aims: Patients' use of and experience with pharmacogenetic
(PGx) testing may be impacted by several factors including
patient and provider knowledge, health status, and perceived
understanding of results. Materials & Methods: We
conducted an online survey of individuals who had subscribed
to a newsletter service offered by a US commercial PGx
testing company, Genelex. Results: We find that about half
of respondents that had PGx testing reviewed one or more of
the lab's web-pages, 43% believed they understood the test
results very well, but 40% did not know or could not recall
whether their provider had changed their prescription based
on the test result. Conclusions: There was limited use of
the laboratory's online resources by respondents undergoing
PGx testing. Increased awareness of the website may improve
understanding of test results and facilitate discussions
with providers about medication changes.},
Doi = {10.2217/pgs-2019-0006},
Key = {fds343638}
}
@article{fds344629,
Author = {Haga, SB and Moaddeb, J},
Title = {Pharmacogenomics courses in pharmacy school
curricula.},
Journal = {Pharmacogenomics},
Volume = {20},
Number = {9},
Pages = {625-630},
Year = {2019},
Month = {June},
url = {http://dx.doi.org/10.2217/pgs-2019-0024},
Abstract = {Aim: The appropriate use and integration of pharmacogenetic
(PGx) testing will pivot on provider preparation and
training. Pharmacists have been recognized as one of the key
providers in the delivery of PGx testing and as such,
professional organizations have recommended inclusion of PGx
content in pharmacy curricula. Methods: We reviewed the
curriculum of 132 US pharmacy schools for information about
PGx courses. Results: A total of 70 core curriculum courses
were identified. 55 (42%) pharmacy schools included at least
one PGx course as part of the core curriculum, and ten (8%)
schools that offered a PGx course elective. Conclusion:
While many pharmacy schools have responded to the
accreditation standards to include PGx, less than half of
the schools have developed a standalone course.},
Doi = {10.2217/pgs-2019-0024},
Key = {fds344629}
}
@article{fds344594,
Author = {Haga, SB and Kim, E and Myers, RA and Ginsburg, GS},
Title = {Primary Care Physicians' Knowledge, Attitudes, and
Experience with Personal Genetic Testing.},
Journal = {J Pers Med},
Volume = {9},
Number = {2},
Year = {2019},
Month = {May},
url = {http://dx.doi.org/10.3390/jpm9020029},
Abstract = {Primary care providers (PCPs) will play an important role in
precision medicine. However, their lack of training and
knowledge about genetics and genomics may limit their
ability to advise patients or interpret or utilize test
results. We evaluated PCPs' awareness of the role of
genetics/genomics in health, knowledge about key concepts in
genomic medicine, perception/attitudes towards
direct-to-consumer (DTC) genetic testing, and their level of
confidence/comfort in discussing testing with patients prior
to and after undergoing DTC testing through the 23andMe
Health + Ancestry Service. A total of 130 PCPs completed the
study. Sixty-three percent were board-certified in family
practice, 32% graduated between 1991 and 2000, and 88% had
heard of 23andMe prior to the study. Seventy-two percent
decided to participate in the study to gain a better
understanding about testing. At baseline, 23% of respondents
indicated comfort discussing genetics as a risk factor for
common diseases, increasing to 59% after undergoing personal
genetic testing (PGT) (p < 0.01). In summary, we find that
undergoing PGT augments physicians' confidence, comfort, and
interest in DTC testing.},
Doi = {10.3390/jpm9020029},
Key = {fds344594}
}
@article{fds342286,
Author = {Wu, RR and Myers, RA and Buchanan, AH and Dimmock, D and Fulda, KG and Haller, IV and Haga, SB and Harry, ML and McCarty, C and Neuner, J and Rakhra-Burris, T and Sperber, N and Voils, CI and Ginsburg, GS and Orlando, LA},
Title = {Effect of Sociodemographic Factors on Uptake of a
Patient-Facing Information Technology Family Health History
Risk Assessment Platform.},
Journal = {Appl Clin Inform},
Volume = {10},
Number = {2},
Pages = {180-188},
Year = {2019},
Month = {March},
url = {http://dx.doi.org/10.1055/s-0039-1679926},
Abstract = {OBJECTIVE: Investigate sociodemographic differences in the
use of a patient-facing family health history (FHH)-based
risk assessment platform. METHODS: In this large multisite
trial with a diverse patient population, we evaluated the
relationship between sociodemographic factors and FHH health
risk assessment uptake using an information technology (IT)
platform. The entire study was administered online,
including consent, baseline survey, and risk assessment
completion. We used multivariate logistic regression to
model effect of sociodemographic factors on study
progression. Quality of FHH data entered as defined as
relatives: (1) with age of onset reported on relevant
conditions; (2) if deceased, with cause of death and (3) age
of death reported; and (4) percentage of relatives with
medical history marked as unknown was analyzed using grouped
logistic fixed effect regression. RESULTS: A total of 2,514
participants consented with a mean age of 57 and 10.4%
minority. Multivariate modeling showed that progression
through study stages was more likely for younger
(p-value = 0.005), more educated (p-value = 0.004),
non-Asian (p-value = 0.009), and female
(p-value = 0.005) participants. Those with lower health
literacy or information-seeking confidence were also less
likely to complete the study. Most significant drop-out
occurred during the risk assessment completion phase.
Overall, quality of FHH data entered was high with
condition's age of onset reported 87.85%, relative's cause
of death 85.55% and age of death 93.76%, and relative's
medical history marked as unknown 19.75% of the time.
CONCLUSION: A demographically diverse population was able to
complete an IT-based risk assessment but there were
differences in attrition by sociodemographic factors. More
attention should be given to ensure end-user functionality
of health IT and leverage electronic medical records to
lessen patient burden.},
Doi = {10.1055/s-0039-1679926},
Key = {fds342286}
}
@article{fds346882,
Author = {Haga, SB},
Title = {Pharmacogenomic Testing In Pediatrics: Navigating The
Ethical, Social, And Legal Challenges.},
Journal = {Pharmgenomics Pers Med},
Volume = {12},
Pages = {273-285},
Year = {2019},
url = {http://dx.doi.org/10.2147/PGPM.S179172},
Abstract = {For the past several years, the implementation of
pharmacogenetic (PGx) testing has become widespread in
several centers and clinical practice settings. PGx testing
may be ordered at the point-of-care when treatment is needed
or in advance of treatment for future use. The potential
benefits of PGx testing are not limited to adult patients,
as children are increasingly using medications more often
and at earlier ages. This review provides some background on
the use of PGx testing in children as well as mothers
(prenatally and post-natally) and discusses the challenges,
benefits, and the ethical, legal, and social implications of
providing PGx testing to children.},
Doi = {10.2147/PGPM.S179172},
Key = {fds346882}
}
@article{fds346883,
Author = {Madhavan, S and Bullis, E and Myers, R and Zhou, CJ and Cai, EM and Sharma,
A and Bhatia, S and Orlando, LA and Haga, SB},
Title = {Awareness of family health history in a predominantly young
adult population.},
Journal = {PLoS One},
Volume = {14},
Number = {10},
Pages = {e0224283},
Year = {2019},
url = {http://dx.doi.org/10.1371/journal.pone.0224283},
Abstract = {Family health history (FHH) is a key predictor of health
risk and is universally important in preventive care.
However, patients may not be aware of the importance of FHH,
and thus, may fail to accurately or completely share FHH
with health providers, thereby limiting its utility. In this
study, we conducted an online survey of 294 young adults and
employees based at a US university setting regarding their
knowledge, sharing behaviors, and perceived importance of
FHH, and use of electronic clinical tools to document and
update FHH. We also evaluated two educational interventions
(written and video) to promote knowledge about FHH and its
importance to health. We found that 93% of respondents were
highly aware of their FHH, though only 39% reported
collecting it and 4% using an online FHH tool. Seventy-three
percent of respondents, particularly women, had shared FHH
with their doctor when prompted, and fewer had shared it
with family members. Participants in the video group were
significantly more likely to understand the benefits of FHH
than those in the written group (p = 0.02). In summary,
educational resources, either video or written, will be
helpful to promote FHH collection, sharing, and use of
online FHH tools.},
Doi = {10.1371/journal.pone.0224283},
Key = {fds346883}
}
@article{fds339653,
Author = {Peyser, B and Perry, EP and Singh, K and Gill, RD and Mehan, MR and Haga,
SB and Musty, MD and Milazzo, NA and Savard, D and Li, Y-J and Trujilio, G and Voora, D},
Title = {Effects of Delivering SLCO1B1 Pharmacogenetic Information in
Randomized Trial and Observational Settings.},
Journal = {Circ Genom Precis Med},
Volume = {11},
Number = {9},
Pages = {e002228},
Year = {2018},
Month = {September},
url = {http://dx.doi.org/10.1161/CIRCGEN.118.002228},
Abstract = {BACKGROUND: Outcomes of tailoring statin-type based on
solute carrier organic anion transporterfamily member 1B1 (
SLCO1B1)pharmacogenetic toxicity information on patient,
provider, and pharmacological outcomes are unknown. METHODS:
The trial randomized 159 patients not taking statins because
of prior statin myalgia 1:1 to receiving SLCO1B1 GIST
(Genotype Informed Statin Therapy) versus usual care (UC)
and followed for up to 8 months. The UC arm received their
SLCO1B1 results post-trial. The primary outcome was statin
adherence using the Morisky Medication Adherence Scale,
which was assessed in those patients who reinitiated
statins. Secondary outcomes assessed in all participants
included statin reinitiation and LDLc (low-density
lipoprotein cholesterol), within and post-trial. Using
commercial laboratory data, serial LDLc were compared
between 1907 patients receiving SLCO1B1 testing and
propensity-matched, untested controls. RESULTS: Trial
participants were 25% SLCO1B1*5 carriers. Statin adherence
was similar between arms (Morisky Medication Adherence Scale
in GIST versus UC, 6.8±1.5 versus 6.9±1.6, P=0.96). GIST
led to more new statin prescriptions (55.4% versus 38.0%,
P=0.04) and lower LDLc at 3 months (131.9±42.0 versus
144.4±43.0 mg/dL; P=0.048) with similar magnitude at 8
months (128.6±37.9 versus 141.0±44.4; P=0.12). SLCO1B1*5
carriers exhibited a greater drop in LDLc with GIST versus
UC (interaction P=0.048). Post-trial, LDLc decreased in UC
participants who crossed over to GIST compared with those
allocated to GIST (-14.9±37.8 versus +9.0±37.3 mg/dL,
P=0.03). Patients tested for SLCO1B1 though a commercial
laboratory had a greater LDLc decrease ( P=0.04) compared
with controls. CONCLUSIONS: Delivery of SLCO1B1
pharmacogenetic testing that addresses statin myalgia
improved statin reinitiation and LDLc but did not improve
self-reported statin adherence. CLINICAL TRIAL REGISTRATION:
URL: https://www.clinicaltrials.gov . Unique identifier:
NCT01894230.},
Doi = {10.1161/CIRCGEN.118.002228},
Key = {fds339653}
}
@article{fds336606,
Author = {Haga, SB and Kantor, A},
Title = {Horizon Scan Of Clinical Laboratories Offering
Pharmacogenetic Testing.},
Journal = {Health Aff (Millwood)},
Volume = {37},
Number = {5},
Pages = {717-723},
Year = {2018},
Month = {May},
url = {http://dx.doi.org/10.1377/hlthaff.2017.1564},
Abstract = {Pharmacogenetic (PGx) testing involves the analysis of genes
known to affect response to medications. The field has been
projected as a leading application of personalized or
precision medicine, but the use of PGx tests has been
stymied, in part, by the lack of clinical evidence of
utility and reported low provider awareness. Another factor
is the availability of testing. The range and types of PGx
tests available have not been assessed to date. In the
period September 2017-January 2018 we analyzed the numbers
and types of PGx tests offered by clinical testing
laboratories in the US. Of the 111 such labs that we
identified, we confirmed that 76 offered PGx testing
services. Of these, 31 offered only tests for single genes;
30 offered only tests for multiple genes; and 15 offered
both types of tests. Collectively, 45 laboratories offered
114 multigene panel tests covering 295 genes. The majority
of these tests did not have any clinical guidelines. PGx
tests vary in type and makeup, which presents challenges in
appropriate test evaluation and selection for providers,
insurers, health systems, and patients alike.},
Doi = {10.1377/hlthaff.2017.1564},
Key = {fds336606}
}
@article{fds338375,
Author = {Mills, R and Haga, SB},
Title = {Qualitative user evaluation of a revised pharmacogenetic
educational toolkit.},
Journal = {Pharmgenomics Pers Med},
Volume = {11},
Pages = {139-146},
Year = {2018},
url = {http://dx.doi.org/10.2147/PGPM.S169648},
Abstract = {INTRODUCTION: Pharmacogenetic (PGx) testing is a leading
application for personalized and precision medicine;
however, there are barriers, including limited provider and
patient understanding, which affect its uptake. There is a
need for tools that can enhance the patient and provider
experience with testing and promoting the shared and
informed decision-making. MATERIALS AND METHODS: In this
study, we sought to gather additional feedback on a PGx
toolkit comprised of four educational tools that had been
previously evaluated through an online survey by
pharmacists. Specifically, we conducted semi-structured
interviews with pharmacists and members of the public
regarding their understanding and utility of the toolkit and
its individual components. RESULTS: Participants found three
of the four toolkit components, a test information sheet,
flipbook, and results sheet, to be useful and important. The
fourth component, results card, was viewed less favorably.
Participants differed in their preference for medical jargon
and detailed results nomenclature (namely star * alleles).
CONCLUSION: User input during the development of educational
materials is essential for optimizing utilization,
effectiveness, and comprehension.},
Doi = {10.2147/PGPM.S169648},
Key = {fds338375}
}
@article{fds333809,
Author = {Haga, SB and Friedman, B and Richard, G},
Title = {Considering the Benefits and Risks of Research Participants'
Access to Sequence Data.},
Journal = {Genet Test Mol Biomarkers},
Volume = {21},
Number = {12},
Pages = {717-721},
Year = {2017},
Month = {December},
url = {http://dx.doi.org/10.1089/gtmb.2017.0143},
Abstract = {The use of sequencing technologies has greatly expanded in
both research and clinical settings. The generation of
voluminous datasets has raised several issues regarding data
sharing and access. Current regulations require clinical
laboratories and some research laboratories to provide
access to test data, including sequencing data, directly to
patients upon request. There is some controversy over
whether this access right may be somewhat broader,
encompassing research data as well-a question beyond the
scope of this article. It is clear that in the research
setting, deposition of sequencing data into public or
private databases often occurs, although little information
exists about the return of data files to research
participants (in contrast to the extensive deliberations
regarding return of results). Thus, further consideration of
the issue of access to data files is warranted as well as
more effort to understand both patients' and research
participants' use of the data.},
Doi = {10.1089/gtmb.2017.0143},
Key = {fds333809}
}
@article{fds333810,
Author = {Huddleston, KL and Klein, E and Fuller, A and Jo, G and Lawrence, G and Haga, SB},
Title = {Introducing personalized health for the family: the
experience of a single hospital system.},
Journal = {Pharmacogenomics},
Volume = {18},
Number = {17},
Pages = {1589-1594},
Year = {2017},
Month = {November},
url = {http://dx.doi.org/10.2217/pgs-2017-0112},
Abstract = {Pharmacogenetic testing is leading the personalized health
movement, gradually being implemented in a variety of
healthcare settings. To inform the efforts of other hospital
and clinical practices implementing personalized health or
medicine applications, we describe the implementation of a
newborn pharmacogenetic testing program at Inova Health
System (VA, USA). In particular, we describe the efforts to
gather patient feedback through focus groups, the training
and program staff, the pilot program and our experiences to
date. In our experience, a multidisciplinary team was
essential to address the myriad facets of program
development and implementation as well as an in-person
approach to introduce testing and patient
education.},
Doi = {10.2217/pgs-2017-0112},
Key = {fds333810}
}
@article{fds328444,
Author = {Haga, SB},
Title = {Informational Quest.},
Journal = {Circ Cardiovasc Genet},
Volume = {10},
Number = {4},
Year = {2017},
Month = {August},
url = {http://dx.doi.org/10.1161/CIRCGENETICS.117.001860},
Doi = {10.1161/CIRCGENETICS.117.001860},
Key = {fds328444}
}
@article{fds328285,
Author = {Haga, SB},
Title = {Educating patients and providers through comprehensive
pharmacogenetic test reports.},
Journal = {Pharmacogenomics},
Volume = {18},
Number = {11},
Pages = {1047-1050},
Year = {2017},
Month = {July},
url = {http://dx.doi.org/10.2217/pgs-2017-0088},
Doi = {10.2217/pgs-2017-0088},
Key = {fds328285}
}
@article{fds326495,
Author = {Mills, R and Ensinger, M and Callanan, N and Haga,
SB},
Title = {Development and Initial Assessment of a Patient Education
Video about Pharmacogenetics.},
Journal = {J Pers Med},
Volume = {7},
Number = {2},
Year = {2017},
Month = {May},
url = {http://dx.doi.org/10.3390/jpm7020004},
Abstract = {As few patient-friendly resources about pharmacogenetics are
currently available, we aimed to create and assess a patient
educational video on pharmacogenetic testing. A primary
literature and resources review was conducted to inform the
content and the format of the video. The educational video
was then created using a commercially available animation
program and pilot tested in focus groups of the general
public and by an online survey of pharmacists. Emerging
themes from the focus groups and survey indicate a desire
for appropriate risk contextualization and specific examples
when pharmacogenetic testing may be beneficial. Focus group
participants also expressed a preference for a video with
live action, and more text to reinforce concepts.
Pharmacists generally felt that the video was understandable
for patients and relevant for decision-making regarding
testing. Using this initial feedback and the identification
of important concepts to include in pharmacogenetics
educational tools, we plan to revise the video, perform
additional evaluations, and publish the video for public use
in the future.},
Doi = {10.3390/jpm7020004},
Key = {fds326495}
}
@article{fds325347,
Author = {Haga, SB and Mills, R and Moaddeb, J and Allen LaPointe and N and Cho, A and Ginsburg, GS},
Title = {Primary care providers' use of pharmacist support for
delivery of pharmacogenetic testing.},
Journal = {Pharmacogenomics},
Volume = {18},
Number = {4},
Pages = {359-367},
Year = {2017},
Month = {March},
url = {http://dx.doi.org/10.2217/pgs-2016-0177},
Abstract = {AIM: To investigate provider utilization of pharmacist
support in the delivery of pharmacogenetic testing in a
primary care setting. METHODS: Two primary care clinics
within Duke University Health System participated in the
study between December 2012 and July 2013. One clinic was
provided with an in-house pharmacist and the second clinic
had an on-call pharmacist. RESULTS: Providers in the
in-house pharmacist arm consulted with the pharmacist for 13
of 15 cases, or about one of every four patients tested
compared with one of every 7.5 patients in the on-call
pharmacist arm. A total of 63 tests were ordered, 48 by
providers in the pharmacist-in-house arm. CONCLUSION: These
findings suggest that the availability of an in-house
pharmacist increases the likelihood of pharmacogenetic test
utilization.},
Doi = {10.2217/pgs-2016-0177},
Key = {fds325347}
}
@article{fds323847,
Author = {Haga, SB},
Title = {Update: looking beyond the 100,000 Genome
Project.},
Journal = {Per Med},
Volume = {14},
Number = {2},
Pages = {85-87},
Year = {2017},
Month = {March},
url = {http://dx.doi.org/10.2217/pme-2016-0101},
Doi = {10.2217/pme-2016-0101},
Key = {fds323847}
}
@article{fds325348,
Author = {Haga, SB and Moaddeb, J and Mills, R and Voora, D},
Title = {Assessing feasibility of delivering pharmacogenetic testing
in a community pharmacy setting.},
Journal = {Pharmacogenomics},
Volume = {18},
Number = {4},
Pages = {327-335},
Year = {2017},
Month = {March},
url = {http://dx.doi.org/10.2217/pgs-2016-0175},
Abstract = {AIM: To describe the rationale and design of a study
evaluating the delivery of pharmacogenetic (PGx) testing in
community pharmacies. Study rationale: Pharmacists have
expressed interest in offering PGx testing; however, their
lack of knowledge and experience, patients' acceptance and
feasibility are unknown in this setting. STUDY DESIGN:
Through a cluster randomized trial, we will assess
pharmacist and patient experiences with delivery of PGx
testing as a standalone service or integrated into
medication therapy management services. Anticipated results:
We anticipate that PGx testing can be delivered in a
community pharmacy setting and accepted and valued by
patients. CONCLUSION: This study is expected to provide
valuable evidence about the real-world feasibility and
acceptance of a community pharmacist-delivered approach of
PGx testing.},
Doi = {10.2217/pgs-2016-0175},
Key = {fds325348}
}
@article{fds339308,
Author = {Haga, SB},
Title = {Integrating pharmacogenetic testing into primary
care.},
Journal = {Expert Rev Precis Med Drug Dev},
Volume = {2},
Number = {6},
Pages = {327-336},
Publisher = {Informa UK Limited},
Year = {2017},
url = {http://dx.doi.org/10.1080/23808993.2017.1398046},
Abstract = {INTRODUCTION: Pharmacogenetic (PGx) testing has greatly
expanded due to enhanced understanding of the role of genes
in drug response and advances in DNA-based testing
technology development. As many primary care visits result
in a prescription, the use of PGx testing may be
particularly beneficial in this setting. However,
integration of PGx testing may be limited as no uniform
approach to delivery of tests has been established and
providers are ill-prepared to integrate PGx testing into
routine care. AREAS COVERED: In this paper, the readiness of
primary care practitioners are reviewed as well as
strategies to address these barriers based on published
research and ongoing activities on education and
implementation of PGx testing. EXPERT COMMENTARY: Widespread
integration of PGx testing will warrant continued education
and point-of-care decisional support. Primary care providers
may also benefit from consultation services or team-based
care with laboratory medicine specialists, pharmacists, and
genetic counselors.},
Doi = {10.1080/23808993.2017.1398046},
Key = {fds339308}
}
@article{fds328309,
Author = {Singh, K and Peyser, B and Trujillo, G and Milazzo, N and Savard, D and Haga, SB and Musty, M and Voora, D},
Title = {Rationale and design of the SLCO1B1 genotype guided statin
therapy trial.},
Journal = {Pharmacogenomics},
Volume = {17},
Number = {17},
Pages = {1873-1880},
Year = {2016},
Month = {November},
url = {http://dx.doi.org/10.2217/pgs-2016-0065},
Doi = {10.2217/pgs-2016-0065},
Key = {fds328309}
}
@article{fds322053,
Author = {Haga, SB and Mills, R and Moaddeb, J and Allen Lapointe and N and Cho, A and Ginsburg, GS},
Title = {Patient experiences with pharmacogenetic testing in a
primary care setting.},
Journal = {Pharmacogenomics},
Volume = {17},
Number = {15},
Pages = {1629-1636},
Year = {2016},
Month = {October},
url = {http://dx.doi.org/10.2217/pgs-2016-0077},
Abstract = {AIM: To investigate patient experiences with pharmacogenetic
(PGx) testing. METHODS: Patients were offered PGx testing
through a study on pharmacist-assisted delivery of PGx
testing and invited to complete pre- and post-testing
surveys about their experience. RESULTS: Of 63 patients
tested, 17 completed the baseline survey (27%). Interest in
testing was mostly impacted by desire to inform selection of
best treatment (n = 13). Seven of 12 patients that completed
the follow-up survey indicated that their provider discussed
the test result with them. Five patients understood their
test result very or somewhat well. All would be likely to
have PGx testing again. CONCLUSION: Patients perceived PGx
testing to be useful, though more effort may be needed to
improve patient-provider communication of test
results.},
Doi = {10.2217/pgs-2016-0077},
Key = {fds322053}
}
@article{fds322577,
Author = {Haga, SB and Mills, R and Moaddeb, J},
Title = {Evaluation of a pharmacogenetic educational toolkit for
community pharmacists.},
Journal = {Pharmacogenomics},
Volume = {17},
Number = {14},
Pages = {1491-1502},
Year = {2016},
Month = {September},
url = {http://dx.doi.org/10.2217/pgs-2016-0002},
Abstract = {AIM: Over the past several decades, the roles and services
of community pharmacists have expanded beyond traditional
medical dispensation and compounding, and include health
services such as vaccinations, and clinical testing and
screening. Incorporating pharmacogenetic (PGx) testing into
the menu of pharmacy services is logical and feasible;
however, few pharmacists have experience with PGx testing,
and few educational resources about PGx are available to
support the uptake of PGx testing in community pharmacies.
METHODS: We developed a toolkit of four resources to assist
pharmacists to provide PGx testing. We conducted a survey of
pharmacists in North Carolina to evaluate each component of
the toolkit and the toolkit as a whole. RESULTS: A total of
380 respondents completed the evaluation of one or more
toolkit components (344 evaluated all four components and
the overall toolkit). Most respondents (84%) have never
ordered or used PGx test results. Though the usability of
the toolkit overall was below average (65.1 on a range of
0-100), individual components were perceived as useful and
more than 75% of pharmacists reported that they would use
the toolkit components when offering testing, with the
result summary sheet receiving the highest score (4.01 out
of 5). Open-text comments highlighted the need for more
patient-friendly language and formatting. CONCLUSION: The
majority of pharmacist respondents scored the components of
the toolkit favorably. The next steps will be to revise and
assess use of the toolkit in community pharmacy
settings.},
Doi = {10.2217/pgs-2016-0002},
Key = {fds322577}
}
@article{fds322576,
Author = {Haga, SB and Mills, R},
Title = {A review of consent practices and perspectives for
pharmacogenetic testing.},
Journal = {Pharmacogenomics},
Volume = {17},
Number = {14},
Pages = {1595-1605},
Year = {2016},
Month = {September},
url = {http://dx.doi.org/10.2217/pgs-2016-0039},
Abstract = {AIM: We aimed to understand consent practices for
pharmacogenetic (PGx) testing. METHODS: We conducted a
literature review and analysis of consent forms from
clinical laboratories offering PGx testing. RESULTS: Our
review of the literature shows a lack of consensus about the
need for and type of informed consent for PGx testing. We
identified 35 companies offering PGx testing and were able
to confirm consent practices for 22 of those. We found a
range of variability in the consent practices regarding the
consent approach and information disclosed. CONCLUSION:
Variability in the consent practices among laboratories
offering PGx testing mirrors the ambiguous practices and
recommendations reported in the literature. Establishing a
minimal set of information to be disclosed to patients may
help address the disparities in consent practice.},
Doi = {10.2217/pgs-2016-0039},
Key = {fds322576}
}
@article{fds319073,
Author = {Haga, SB},
Title = {Challenges of development and implementation of point of
care pharmacogenetic testing.},
Journal = {Expert Rev Mol Diagn},
Volume = {16},
Number = {9},
Pages = {949-960},
Year = {2016},
Month = {September},
url = {http://dx.doi.org/10.1080/14737159.2016.1211934},
Abstract = {INTRODUCTION: Just as technology was the underlying driver
of the sequencing of the human genome and subsequent
generation of volumes of genome sequence data from healthy
and affected individuals, animal, plant, and microbial
species alike, so too will technology revolutionize
diagnostic testing. One area of intense interest is the use
of genetic data to inform decisions regarding drug selection
and drug dosing, known as pharmacogenetic (PGx) testing, to
improve likelihood of successful treatment outcomes with
minimal risks. AREAS COVERED: This commentary will provide
an overview of implementation research of PGx testing, the
benefits of point-of-care (POC) testing and overview of POC
testing platforms, available PGx tests, and barriers and
facilitators to the development and integration of POC-PGx
testing into clinical settings. Sources include the
published literature, and databases from the Centers for
Medicaid and Medicare Services, Food and Drug
Administration. Expert commentary: The utilization of POC
PGx testing may enable more routine test use, but the
development and implementation of such tests will face some
barriers before personalized medicine is available to every
patient. In particular, provider training, availability of
clinical decision supports, and connectivity will be key
areas to facilitate routine use.},
Doi = {10.1080/14737159.2016.1211934},
Key = {fds319073}
}
@article{fds319074,
Author = {Haga, SB and Solomon, BD},
Title = {Considerations of pharmacogenetic testing in
children.},
Journal = {Pharmacogenomics},
Volume = {17},
Number = {9},
Pages = {975-977},
Year = {2016},
Month = {June},
url = {http://dx.doi.org/10.2217/pgs-2016-0073},
Doi = {10.2217/pgs-2016-0073},
Key = {fds319074}
}
@article{fds302547,
Author = {Arora, S and Haverfield, E and Richard, G and Haga, SB and Mills,
R},
Title = {Clinical and Counseling Experiences of Early Adopters of
Whole Exome Sequencing.},
Journal = {J Genet Couns},
Volume = {25},
Number = {2},
Pages = {337-343},
Year = {2016},
Month = {April},
ISSN = {1059-7700},
url = {http://dx.doi.org/10.1007/s10897-015-9876-y},
Abstract = {Currently, there are limited data regarding the practice of
genetic counseling for whole exome sequencing (WES).
Improved understanding of how genetic counselors and other
providers are educating, counseling, and communicating
results may identify practice trends, and patient or
provider needs. Between April 2013 and December 2014, we
surveyed providers who ordered WES testing from GeneDx, a
CLIA-certified laboratory. Forty-nine respondents completed
the survey; 41 % of participants reported board
certification in genetic counseling. Pre-test and post-test
counseling was completed in all but one case each. Pre-test
counseling lasted less than 1 h for 53 % of cases and 1 to 2
h for 43 %. Topics discussed with all patients included
consent for testing, and incidental findings; other topics
were variable. In contrast to pre-test counseling, 59 %
reported post-test counseling lasting 1 to 2 h and 33 % less
than an hour; post-testing counseling was significantly
longer in cases with a definitive diagnosis than those
without (p = 0.0129). The survey findings indicate some
variability regarding the amount of time spent on counseling
and the topics discussed during pre-test counseling.
Additional exploration, patient and provider educational
resources, and potentially more specific guidelines
regarding counseling for WES may be warranted.},
Doi = {10.1007/s10897-015-9876-y},
Key = {fds302547}
}
@article{fds319075,
Author = {Haga, SB and Moaddeb, J},
Title = {Proposal for a pharmacogenetics certificate program for
pharmacists.},
Journal = {Pharmacogenomics},
Volume = {17},
Number = {6},
Pages = {535-539},
Year = {2016},
Month = {April},
url = {http://dx.doi.org/10.2217/pgs.16.11},
Doi = {10.2217/pgs.16.11},
Key = {fds319075}
}
@article{fds319076,
Author = {Haga, SB and Moaddeb, J and Mills, R and Patel, M and Kraus, W and Allen
LaPointe, NM},
Title = {Incorporation of pharmacogenetic testing into medication
therapy management.},
Journal = {Pharmacogenomics},
Volume = {16},
Number = {17},
Pages = {1931-1941},
Year = {2015},
Month = {November},
url = {http://dx.doi.org/10.2217/pgs.15.124},
Abstract = {AIM: To assess feasibility and patient satisfaction with a
pharmacist-delivered medication therapy management (MTM)
plus pharmacogenetic (PGx) testing service. METHODS: Thirty
patients from a cardiology outpatient clinic were enrolled
to attend two MTM sessions, undergo PGx testing and complete
pre- and post-intervention surveys. Outcome measures
included duration of MTM sessions, clinical application of
test results, self-reported medication adherence, patient
recall of results and perceived value of testing and MTM.
RESULTS: Overall, patients were very satisfied with the MTM
plus PGx testing service. About half of participants (47%)
were able to accurately recall their PGx test results.
Comparable to MTM without PGx testing, the first MTM session
averaged 40 min and the follow-up MTM session averaged 15
min. CONCLUSION: PGx testing incorporated into a clinical
MTM service offered by pharmacists may be a feasible
delivery model and is satisfactory to patients.},
Doi = {10.2217/pgs.15.124},
Key = {fds319076}
}
@article{fds302548,
Author = {Haga, SB and Mills, R and Aucoin, J and Taekman, J},
Title = {Interprofessional education for personalized medicine
through technology-based learning.},
Journal = {Per Med},
Volume = {12},
Number = {3},
Pages = {237-243},
Year = {2015},
Month = {June},
ISSN = {1741-0541},
url = {http://dx.doi.org/10.2217/pme.14.91},
Abstract = {The delivery of personalized medicine utilizing genetic and
genomic technologies is anticipated to involve many medical
specialties. Interprofessional education will be key to the
delivery of personalized medicine in order to reduce
disjointed or uncoordinated clinical care, and optimize
effective communication to promote patient understanding and
engagement regarding the use of or need for these services.
While several health professional organizations have
endorsed and/or developed core competencies for genetics and
genomics, the lack of interprofessional guidelines and
training may hamper the delivery of coordinated personalized
medicine. In this perspective, we consider the potential for
interprofessional education and training using
technology-based approaches, such as virtual simulation and
gaming, compared with traditional educational
approaches.},
Doi = {10.2217/pme.14.91},
Key = {fds302548}
}
@article{fds302551,
Author = {Haga, SB and Allen LaPointe and NM and Moaddeb, J},
Title = {Challenges to integrating pharmacogenetic testing into
medication therapy management.},
Journal = {J Manag Care Spec Pharm},
Volume = {21},
Number = {4},
Pages = {346-352},
Year = {2015},
Month = {April},
ISSN = {2376-0540},
url = {http://dx.doi.org/10.18553/jmcp.2015.21.4.346},
Abstract = {Some have proposed the integration of pharmacogenetic (PGx)
testing into medication therapy management (MTM) to enable
further refinement of treatments to reduce risk of adverse
responses and improve efficacy. PGx testing involves the
analysis of genetic variants associated with therapeutic or
adverse response and may be useful in enhancing the ability
to identify ineffective and/or harmful drugs or drug
combinations. This "enhanced" MTM might also reduce patient
concerns about side effects and increase confidence that the
medication is effective, addressing 2 key factors that
impact patient adherence: concern and necessity. However,
the feasibility and effectiveness of the integration of PGx
testing into MTM in clinical practice has not yet been
determined. In this commentary, we consider some of the
challenges to the integration and delivery of PGx testing in
MTM services.},
Doi = {10.18553/jmcp.2015.21.4.346},
Key = {fds302551}
}
@article{fds302557,
Author = {Mills, R and Powell, J and Barry, W and Haga, SB},
Title = {Information-seeking and sharing behavior following genomic
testing for diabetes risk.},
Journal = {J Genet Couns},
Volume = {24},
Number = {1},
Pages = {58-66},
Year = {2015},
Month = {February},
ISSN = {1059-7700},
url = {http://dx.doi.org/10.1007/s10897-014-9736-1},
Abstract = {As the practice of medicine has become more patient-driven,
patients are increasingly seeking health information within
and outside of their doctor's office. Patients looking for
information and support are often turning to the Internet as
well as family and friends. As part of a study to understand
the impact of delivery method of genomic testing for type 2
diabetes risk on comprehension and health-related behaviors,
we assessed participants' information-seeking and sharing
behaviors after receiving their results in-person with a
genetic counselor or online through the testing company's
website. We found that 32.6 % of participants sought
information after receiving the genomic test results for
T2DM; 80.8 % of those that did seek information turned to
the Internet. Eighty-eight percent of participants reported
that they shared their T2DM risk results, primarily with
their spouse/partner (65 %) and other family members
(57 %) and children (19 %); 14 % reported sharing results
with their health provider. Sharing was significantly
increased in those who received results in-person from the
genetic counselor (p = 0.0001). Understanding patients'
interests and needs for additional information after genomic
testing and with whom they share details of their health is
important as more information and clinical services are
available and accessed outside the clinician's office.
Genetic counselors' expertise and experience in creating
educational materials and promoting sharing of genetic
information can facilitate patient engagement and
education.},
Doi = {10.1007/s10897-014-9736-1},
Key = {fds302557}
}
@article{fds302556,
Author = {Deverka, PA and Haga, SB},
Title = {Comparative effectiveness research and demonstrating
clinical utility for molecular diagnostic
tests.},
Journal = {Clin Chem},
Volume = {61},
Number = {1},
Pages = {142-144},
Year = {2015},
Month = {January},
ISSN = {0009-9147},
url = {http://dx.doi.org/10.1373/clinchem.2014.223412},
Doi = {10.1373/clinchem.2014.223412},
Key = {fds302556}
}
@article{fds302550,
Author = {Gallagher, P and King, HA and Haga, SB and Orlando, LA and Joy, SV and Trujillo, GM and Scott, WM and Bembe, M and Creighton, DL and Cho, AH and Ginsburg, GS and Vorderstrasse, A},
Title = {Patient beliefs and behaviors about genomic risk for type 2
diabetes: implications for prevention.},
Journal = {J Health Commun},
Volume = {20},
Number = {6},
Pages = {728-735},
Year = {2015},
ISSN = {1081-0730},
url = {http://dx.doi.org/10.1080/10810730.2015.1018563},
Abstract = {Type 2 diabetes is a major health burden in the United
States, and population trends suggest this burden will
increase. High interest in, and increased availability of,
testing for genetic risk of type 2 diabetes presents a new
opportunity for reducing type 2 diabetes risk for many
patients; however, to date, there is little evidence that
genetic testing positively affects type 2 diabetes
prevention. Genetic information may not fit patients'
illness representations, which may reduce the chances of
risk-reducing behavior changes. The present study aimed to
examine illness representations in a clinical sample who are
at risk for type 2 diabetes and interested in genetic
testing. The authors used the Common Sense Model to analyze
survey responses of 409 patients with type 2 diabetes risk
factors. Patients were interested in genetic testing for
type 2 diabetes risk and believed in its importance. Most
patients believed that genetic factors are important to
developing type 2 diabetes (67%), that diet and exercise are
effective in preventing type 2 diabetes (95%), and that
lifestyle changes are more effective than drugs (86%).
Belief in genetic causality was not related to poorer
self-reported health behaviors. These results suggest that
patients' interest in genetic testing for type 2 diabetes
might produce a teachable moment that clinicians can use to
counsel behavior change.},
Doi = {10.1080/10810730.2015.1018563},
Key = {fds302550}
}
@article{fds302552,
Author = {Haga, SB and Mills, R},
Title = {Nurses' communication of pharmacogenetic test results as
part of discharge care.},
Journal = {Pharmacogenomics},
Volume = {16},
Number = {3},
Pages = {251-256},
Year = {2015},
ISSN = {1462-2416},
url = {http://dx.doi.org/10.2217/pgs.14.173},
Abstract = {As pharmacogenetic (PGx) testing is becoming integrated into
routine clinical procedures for admitted hospital patients,
consideration is needed as to when test results will be
communicated to patients and by whom. Given the implications
of PGx test results for current and future care, we propose
that if results are not promptly discussed with patients
when testing is completed, results should be discussed with
patients during discharge care when possible, included in
the printed or electronic discharge summary and a copy of
the results sent to their primary provider. Nurses play an
important role in discharge planning and care by providing
patients with the necessary information and support to
transfer from the hospital setting to an outpatient setting
or to return to home and work. To promote nurses' ability to
fulfill the role of communicating PGx test results, revised
curricula and interprofessional and clinical decision
support are needed.},
Doi = {10.2217/pgs.14.173},
Key = {fds302552}
}
@article{fds319077,
Author = {Moaddeb, J and Mills, R and Haga, SB},
Title = {Community pharmacists' experience with pharmacogenetic
testing.},
Journal = {J Am Pharm Assoc (2003)},
Volume = {55},
Number = {6},
Pages = {587-594},
Year = {2015},
url = {http://dx.doi.org/10.1331/JAPhA.2015.15017},
Abstract = {OBJECTIVE: Appendix 1 Statements of knowledge of correct
medication use Appendix 2 Statements of self-efficacy of
correct medication use Appendix 3 Statements of skills of
correct medication use To characterize the experiences and
feasibility of offering pharmacogenetic (PGx) testing in a
community pharmacy setting. DESIGN: Pharmacists were invited
to complete a survey about PGx testing for each patient who
was offered testing. If the patient consented, pharmacists
were also asked to complete a follow-up survey about the
process of returning PGx testing results to patients and
follow-up with the prescribing provider. SETTING: Community
pharmacies in North Carolina from August through November
2014. PARTICIPANTS: Pharmacists at five community
pharmacies. MAIN OUTCOME MEASURES: Patient consent for
testing, time to introduce PGx testing initially and
communicate results, interpretation of test results, and
recommended medication changes. RESULTS: Of the 69 patients
offered testing, 56 (81%) consented. Pre-test counseling
typically lasted 1-5 minutes (81%), and most patients (55%)
did not have any questions about the testing. Most
pharmacists reported test results to patients by phone
(84%), with discussions taking less than 1 minute (48%) or
1-5 minutes (52%). Most pharmacists believed the patients
understood their results either very well (54%) or somewhat
well (41%). Pharmacists correctly interpreted 47 of the 53
test results (89%). All of the incorrect interpretations
were for patients with test results indicating a dosing or
drug change (6/19; 32%). Pharmacists reported contacting the
ordering physician for four patients to discuss results
indicating a dosage or drug change. CONCLUSION: The
provision of PGx services in a community pharmacy setting
appears feasible, requiring little additional time from the
pharmacist, and many patients seem interested in PGx
testing. Additional training may be necessary to improve
test result interpretation, as well as for communication
with both patients and ordering physicians.},
Doi = {10.1331/JAPhA.2015.15017},
Key = {fds319077}
}
@article{fds319078,
Author = {Haga, SB and Moaddeb, J},
Title = {Potential use of auxiliary labels to promote patient
awareness of pharmacogenetic testing.},
Journal = {Pharmacogenomics},
Volume = {16},
Number = {4},
Pages = {299-301},
Year = {2015},
url = {http://dx.doi.org/10.2217/pgs.14.184},
Doi = {10.2217/pgs.14.184},
Key = {fds319078}
}
@article{fds302553,
Author = {Haga, SB and Allen LaPointe and NM and Moaddeb, J and Mills, R and Patel,
M and Kraus, WE},
Title = {Pilot study: incorporation of pharmacogenetic testing in
medication therapy management services.},
Journal = {Pharmacogenomics},
Volume = {15},
Number = {14},
Pages = {1729-1737},
Year = {2014},
Month = {November},
ISSN = {1462-2416},
url = {http://dx.doi.org/10.2217/pgs.14.118},
Abstract = {Aim: To describe the rationale and design of a pilot study
evaluating the integration of pharmacogenetic (PGx) testing
into pharmacist-delivered medication therapy management
(MTM). Study rationale: Clinical delivery approaches of PGx
testing involving pharmacists may overcome barriers of
limited physician knowledge about and experience with
testing. Study design: We will assess the addition of PGx
testing to MTM services for cardiology patients taking three
or more medications including simvastatin or clopidogrel. We
will measure the impact of MTM plus PGx testing on drug/dose
adjustment and clinical outcomes. Factors associated with
delivery, such as time to prepare and conduct MTM and
consult with physicians will be recorded. Additionally,
patient interest and satisfaction will be measured.
Anticipated results: We anticipate that PGx testing can be
practically integrated into standard a MTM service,
providing a viable delivery model for testing. Conclusion:
Given the lack of evidence of an effective PGx delivery
models, this study will provide preliminary evidence
regarding a pharmacist-delivered approach.},
Doi = {10.2217/pgs.14.118},
Key = {fds302553}
}
@article{fds343466,
Author = {Haga, SB and Mills, R and Bosworth, H},
Title = {Striking a balance in communicating pharmacogenetic test
results: promoting comprehension and minimizing adverse
psychological and behavioral response.},
Journal = {Patient Educ Couns},
Volume = {97},
Number = {1},
Pages = {10-15},
Year = {2014},
Month = {October},
url = {http://dx.doi.org/10.1016/j.pec.2014.06.007},
Abstract = {OBJECTIVE: Pharmacogenetic (PGx) testing can provide
information about a patient's likelihood to respond to a
medication or experience an adverse event, and be used to
inform medication selection and/or dosing. Promoting patient
comprehension of PGx test results will be important to
improving engagement and understanding of treatment
decisions. METHODS: The discussion in this paper is based on
our experiences and the literature on communication of
genetic test results for disease risk and broad risk
communication strategies. RESULTS: Clinical laboratory
reports often describe PGx test results using standard
terminology such as 'poor metabolizer' or 'ultra-rapid
metabolizer.' While this type of terminology may promote
patient recall with its simple, yet descriptive nature, it
may be difficult for some patients to comprehend and/or
cause adverse psychological or behavioral responses.
CONCLUSION: The language used to communicate results and
their significance to patients will be important to consider
in order to minimize confusion and potential psychological
consequences such as increased anxiety that can adversely
impact medication-taking behaviors. PRACTICE IMPLICATIONS:
Due to patients' unfamiliarity with PGx testing and the
potential for confusion, adverse psychological effects, and
decreased medication adherence, health providers need to be
cognizant of the language used in discussing PGx test
results with patients.},
Doi = {10.1016/j.pec.2014.06.007},
Key = {fds343466}
}
@article{fds302554,
Author = {Haga, SB and LaPointe, NMA and Cho, A and Reed, SD and Mills, R and Moaddeb, J and Ginsburg, GS},
Title = {Pilot study of pharmacist-assisted delivery of
pharmacogenetic testing in a primary care
setting.},
Journal = {Pharmacogenomics},
Volume = {15},
Number = {13},
Pages = {1677-1686},
Year = {2014},
Month = {September},
ISSN = {1462-2416},
url = {http://dx.doi.org/10.2217/pgs.14.109},
Abstract = {AIM: To describe the rationale and design of a pilot program
to implement and evaluate pharmacogenetic (PGx) testing in a
primary care setting. STUDY RATIONALE: Several factors have
impeded the uptake of PGx testing, including lack of
provider knowledge and challenges with operationalizing PGx
testing in a clinical practice setting. STUDY DESIGN: We
plan to compare two strategies for the implementation of PGx
testing: a pharmacist-initiated testing arm compared with a
physician-initiated PGx testing arm. Providers in both
groups will be required to attend an introduction to PGx
seminar. Anticipated results: We anticipate that providers
in the pharmacist-initiated group will be more likely to
order PGx testing than providers in the physician-initiated
group. CONCLUSION: Overall, we aim to generate data that
will inform an effective delivery model for PGx testing and
to facilitate a seamless integration of PGx testing in
primary care practices.},
Doi = {10.2217/pgs.14.109},
Key = {fds302554}
}
@article{fds302570,
Author = {Mills, R and Haga, SB},
Title = {Genomic counseling: next generation counseling.},
Journal = {J Genet Couns},
Volume = {23},
Number = {4},
Pages = {689-692},
Year = {2014},
Month = {August},
url = {http://www.ncbi.nlm.nih.gov/pubmed/24026254},
Abstract = {Personalized medicine continues to expand with the
development and increasing use of genome-based testing.
While these advances present new opportunities for diagnosis
and risk assessment, they also present challenges to
clinical delivery. Genetic counselors will play an important
role in ushering in this new era of testing; however, it
will warrant a shift from traditional genetic counseling to
"genomic counseling." This shift will be marked by a move
from reactive genetic testing for diagnosis of primarily
single-gene diseases to proactive genome-based testing for
multiple complex diseases for the purpose of disease
prevention. It will also require discussion of risk
information for a number of diseases, some of which may have
low relative risks or weak associations, and thus, may not
substantially impact clinical care. Additionally, genomic
counselors will expand their roles, particularly in the area
of health promotion to reduce disease risk. This additional
role will require a style of counseling that is more
directive than traditional counseling and require greater
knowledge about risk reducing behaviors and disease
screening.},
Doi = {10.1007/s10897-013-9641-z},
Key = {fds302570}
}
@article{fds302561,
Author = {Mills, R and Barry, W and Haga, SB},
Title = {Public trust in genomic risk assessment for type 2 diabetes
mellitus.},
Journal = {J Genet Couns},
Volume = {23},
Number = {3},
Pages = {401-408},
Year = {2014},
Month = {June},
ISSN = {1059-7700},
url = {http://dx.doi.org/10.1007/s10897-013-9674-3},
Abstract = {Patient trust in personal medical information is critical to
increasing adherence to physician recommendations and
medications. One of the anticipated benefits of learning of
one's genomic risk for common diseases is the increased
adoption of screening, preventive care and lifestyle
changes. However, the equivocal results thus far reported of
the positive impact of knowledge of genomic risk on behavior
change may be due to lack of patients' trust in the results.
As part of a clinical study to compare two methods of
communication of genomic risk results for Type 2 diabetes
mellitus (T2DM), we assessed patients' trust and preferred
methods of delivery of genomic risk information. A total of
300 participants recruited from the general public in
Durham, NC were randomized to receive their genomic risk for
T2DM in-person from a genetic counselor or online through
the testing company's web-site. Participants completed a
baseline survey and three follow-up surveys after receiving
results. Overall, participants reported high levels of trust
in the test results. Participants who received their results
in-person from the genetic counselor were significantly more
likely to trust their results than those who reviewed their
results on-line (p = 0.005). There was not a
statistically significant difference in levels of trust
among participants with increased genetic risk, as compared
to other those with decreased or same as population risk
(p = 0.1154). In the event they undergo genomic risk
testing again, 55 % of participants overall indicated they
would prefer to receive their results online compared to
28 % that would prefer to receive future results in-person.
Of those participants preferring to receive results online,
77 % indicated they would prefer to have the option to
speak to someone if they had questions with the online
results (compared to accessing results online without the
option of professional consultation). This is the first
study to assess satisfaction with genomic risk testing by
the method of delivery of the test result. The higher rate
of trust in results delivered in-person suggests that online
access reports may not result in serious consideration of
results and lack of adoption of recommended preventive
recommendations.},
Doi = {10.1007/s10897-013-9674-3},
Key = {fds302561}
}
@article{fds319080,
Author = {Li, JH and Joy, SV and Haga, SB and Orlando, LA and Kraus, WE and Ginsburg,
GS and Voora, D},
Title = {Genetically guided statin therapy on statin perceptions,
adherence, and cholesterol lowering: a pilot implementation
study in primary care patients.},
Journal = {J Pers Med},
Volume = {4},
Number = {2},
Pages = {147-162},
Year = {2014},
Month = {March},
url = {http://dx.doi.org/10.3390/jpm4020147},
Abstract = {Statin adherence is often limited by side effects. The
SLCO1B1*5 variant is a risk factor for statin side effects
and exhibits statin-specific effects: highest with
simvastatin/atorvastatin and lowest with
pravastatin/rosuvastatin. The effects of SLCO1B1*5 genotype
guided statin therapy (GGST) are unknown. Primary care
patients (n = 58) who were nonadherent to statins and their
providers received SLCO1B1*5 genotyping and guided
recommendations via the electronic medical record (EMR). The
primary outcome was the change in Beliefs about Medications
Questionnaire, which measured patients' perceived needs for
statins and concerns about adverse effects, measured before
and after SLCO1B1*5 results. Concurrent controls (n = 59)
were identified through the EMR to compare secondary
outcomes: new statin prescriptions, statin utilization, and
change in LDL-cholesterol (LDL-c). GGST patients had trends
(p = 0.2) towards improved statin necessity and concerns.
The largest changes were the "need for statin to prevent
sickness" (p < 0.001) and "concern for statin to disrupt
life" (p = 0.006). GGST patients had more statin
prescriptions (p < 0.001), higher statin use (p < 0.001),
and greater decrease in LDL-c (p = 0.059) during follow-up.
EMR delivery of SLCO1B1*5 results and recommendations is
feasible in the primary care setting. This novel
intervention may improve patients' perceptions of statins
and physician behaviors that promote higher statin adherence
and lower LDL-c.},
Doi = {10.3390/jpm4020147},
Key = {fds319080}
}
@article{fds302559,
Author = {Haga, SB and Moaddeb, J},
Title = {Comparison of delivery strategies for pharmacogenetic
testing services.},
Journal = {Pharmacogenet Genomics},
Volume = {24},
Number = {3},
Pages = {139-145},
Year = {2014},
Month = {March},
url = {http://www.ncbi.nlm.nih.gov/pubmed/24384556},
Abstract = {The number and use of pharmacogenetic tests to assess a
patient's likelihood of response or risk of an adverse event
is expanding across medical specialties and becoming more
prevalent. During this period of development and
translation, different approaches are being investigated to
optimize delivery of pharmacogenetic services. In this
paper, we review pre-emptive and point-of-care delivery
approaches currently implemented or being investigated and
discuss the advantages and disadvantages of each approach.
The continued growth in knowledge about the genetic basis of
drug response combined with development of new and less
expensive testing technologies and electronic medical
records will impact future delivery systems. Regardless of
delivery approach, the currently limited knowledge of health
professionals about genetics generally or PGx specifically
will remain a major obstacle to utilization.},
Doi = {10.1097/FPC.0000000000000028},
Key = {fds302559}
}
@article{fds302569,
Author = {Zhao, JQ and Haga, SB},
Title = {Promoting the participant-researcher partnership.},
Journal = {Genet Med},
Volume = {16},
Number = {3},
Pages = {228-230},
Year = {2014},
Month = {March},
url = {http://www.ncbi.nlm.nih.gov/pubmed/24009003},
Doi = {10.1038/gim.2013.118},
Key = {fds302569}
}
@article{fds302560,
Author = {Haga, SB},
Title = {Delivering pharmacogenetic testing to the masses: an
achievable goal?},
Journal = {Pharmacogenomics},
Volume = {15},
Number = {1},
Pages = {1-4},
Year = {2014},
Month = {January},
url = {http://www.ncbi.nlm.nih.gov/pubmed/24329184},
Doi = {10.2217/pgs.13.211},
Key = {fds302560}
}
@article{fds319079,
Author = {Haga, SB and Mills, R and Pollak, KI and Rehder, C and Buchanan, AH and Lipkus, IM and Crow, JH and Datto, M},
Title = {Developing patient-friendly genetic and genomic test
reports: formats to promote patient engagement and
understanding.},
Journal = {Genome Med},
Volume = {6},
Number = {7},
Pages = {58},
Year = {2014},
url = {http://dx.doi.org/10.1186/s13073-014-0058-6},
Abstract = {With the emergence of electronic medical records and patient
portals, patients are increasingly able to access their
health records, including laboratory reports. However,
laboratory reports are usually written for clinicians rather
than patients, who may not understand much of the
information in the report. While several professional
guidelines define the content of test reports, there are no
guidelines to inform the development of a patient-friendly
laboratory report. In this Opinion, we consider patient
barriers to comprehension of lab results and suggest several
options to reformat the lab report to promote understanding
of test results and their significance to patient care, and
to reduce patient anxiety and confusion. In particular,
patients' health literacy, genetic literacy, e-health
literacy and risk perception may influence their overall
understanding of lab results and affect patient care. We
propose four options to reformat lab reports: 1) inclusion
of an interpretive summary section, 2) a summary letter to
accompany the lab report, 3) development of a patient user
guide to be provided with the report, and 4) a completely
revised patient-friendly report. The complexity of genetic
and genomic test reports poses a major challenge to patient
understanding that warrants the development of a report more
appropriate for patients.},
Doi = {10.1186/s13073-014-0058-6},
Key = {fds319079}
}
@article{fds302555,
Author = {Haga, SB and Mills, R and Moaddeb, J},
Title = {Pharmacogenetic information for patients on drug
labels.},
Journal = {Pharmgenomics Pers Med},
Volume = {7},
Pages = {297-305},
Year = {2014},
url = {http://dx.doi.org/10.2147/PGPM.S67876},
Abstract = {Advances in pharmacogenetic research have improved our
understanding of adverse drug responses and have led to the
development of pharmacogenetic tests and targeted drugs.
However, the extent of the communication process and
provision of information to patients about pharmacogenetics
is unclear. Pharmacogenetic information may be included in
sections of a drug's package insert intended for patients,
which is provided directly to patients or communicated via
the health provider. To determine what pharmacogenetic
information, if any, is included in patient-targeted
sections of the drug label, we reviewed the labels listed in
the US Food and Drug Administration's Table of
Pharmacogenomic Biomarkers in Drug Labels. To date, 140
drugs include pharmacogenetic-related information in the
approved label. Our analysis revealed that pharmacogenetic
information is included in patient-targeted sections for a
minority (n=29; 21%) of drug labels, with no obvious pattern
associated with the inclusion of pharmacogenetic
information. Therefore, patients are unlikely to learn about
pharmacogenetics through written materials dispensed with
the drug. Given that there are also inconsistencies with
regard to inclusion of pharmacogenetic information in the
patient counseling information section, it is also unlikely
that patients are receiving adequate pharmacogenetic
information from their provider. The inconsistent presence
of pharmacogenetic information in patient-targeted sections
of drug labels suggests a need to review the criteria for
inclusion of information in patient-targeted sections in
order to increase consistency and patient knowledge of
pharmacogenetic information.},
Doi = {10.2147/PGPM.S67876},
Key = {fds302555}
}
@article{fds302558,
Author = {Haga, SB and Barry, WT and Mills, R and Svetkey, L and Suchindran, S and Willard, HF and Ginsburg, GS},
Title = {Impact of delivery models on understanding genomic risk for
type 2 diabetes.},
Journal = {Public Health Genomics},
Volume = {17},
Number = {2},
Pages = {95-104},
Year = {2014},
ISSN = {1662-4246},
url = {http://dx.doi.org/10.1159/000358413},
Abstract = {BACKGROUND: Genetic information, typically communicated
in-person by genetic counselors, can be challenging to
comprehend; delivery of this information online--as is
becoming more common--has the potential of increasing these
challenges. METHODS: To address the impact of the mode of
delivery of genomic risk information, 300 individuals were
recruited from the general public and randomized to receive
genomic risk information for type 2 diabetes mellitus
in-person from a board-certified genetic counselor or online
through the testing company's website. RESULTS: Participants
were asked to indicate their genomic risk and overall
lifetime risk as reported on their test report as well as to
interpret their genomic risk (increased, decreased, or same
as population). For each question, 59% of participants
correctly indicated their risk. Participants who received
their results in-person were more likely than those who
reviewed their results on-line to correctly interpret their
genomic risk (72 vs. 47%, p = 0.0002) and report their
actual genomic risk (69 vs. 49%, p = 0.002). CONCLUSIONS:
The delivery of personal genomic risk through a trained
health professional resulted in significantly higher
comprehension. Therefore, if the online delivery of genomic
test results is to become more widespread, further
evaluation of this method of communication may be needed to
ensure the effective presentation of results to promote
comprehension.},
Doi = {10.1159/000358413},
Key = {fds302558}
}
@article{fds302571,
Author = {Haga, SB and LaPointe, NMA},
Title = {The potential impact of pharmacogenetic testing on
medication adherence.},
Journal = {Pharmacogenomics J},
Volume = {13},
Number = {6},
Pages = {481-483},
Year = {2013},
Month = {December},
url = {http://www.ncbi.nlm.nih.gov/pubmed/23999596},
Abstract = {Poor medication adherence is a well-known problem,
particularly in patients with chronic conditions, and is
associated with significant morbidity, mortality and
health-care costs. Multi-faceted and personalized
interventions have shown the greatest success.
Pharmacogenetic (PGx) testing may serve as another tool to
boost patients' confidence in the safety and efficacy of
prescribed medications. Here, we consider the potential
impact (positively or negatively) of PGx testing on
medication-taking behavior.},
Doi = {10.1038/tpj.2013.33},
Key = {fds302571}
}
@article{fds302563,
Author = {Haga, SB},
Title = {100k Genome Project: sequencing and much
more.},
Journal = {Per Med},
Volume = {10},
Number = {8},
Pages = {761-764},
Year = {2013},
Month = {November},
ISSN = {1741-0541},
url = {http://dx.doi.org/10.2217/pme.13.80},
Doi = {10.2217/pme.13.80},
Key = {fds302563}
}
@article{fds301321,
Author = {Clayton, EW and Haga, S and Kuszler, P and Bane, E and Shutske, K and Burke, W},
Title = {Managing incidental genomic findings: legal obligations of
clinicians.},
Journal = {Genet Med},
Volume = {15},
Number = {8},
Pages = {624-629},
Year = {2013},
Month = {August},
ISSN = {1098-3600},
url = {http://dx.doi.org/10.1038/gim.2013.7},
Abstract = {PURPOSE: Clinical whole-exome and whole-genome sequencing
will result in a broad range of incidental findings, but
clinicians' obligations to identify and disclose such
findings are a matter of debate. We sought legal cases that
could offer insights into clinicians' legal liability.
METHODS: We searched for cases in which incidental findings
were related to the cause of action, using the search
engines WestLaw, WestLaw Next, Lexis, and Lexis Advance.
RESULTS: We found no case law related to incidental findings
from genetic testing but identified eight cases involving
incidental findings in medical imaging. These cases suggest
that clinicians may face liability for failing to disclose
incidental findings that would have offered an opportunity
for interventions to improve health outcome, if under the
applicable standard of care, they fail to identify or
appreciate the significance of the incidental finding or
they negligently fail to notify other clinicians and/or the
patient of the identified incidental finding. Other cases
support liability for failure to refer appropriately to a
clinician with greater expertise. CONCLUSIONS: Clinicians
may face liability if they fail to disclose incidental
information that could inform interventions to improve
health outcome; information lacking clinical actionability
is likely to have less import.},
Doi = {10.1038/gim.2013.7},
Key = {fds301321}
}
@article{fds301325,
Author = {Haga, SB and Rosanbalm, KD and Boles, L and Tindall, GM and Livingston,
TM and O'Daniel, JM},
Title = {Promoting public awareness and engagement in genome
sciences.},
Journal = {J Genet Couns},
Volume = {22},
Number = {4},
Pages = {508-516},
Year = {2013},
Month = {August},
url = {http://www.ncbi.nlm.nih.gov/pubmed/23435715},
Abstract = {Public understanding of genetic concepts and associated
ethical and policy issues can enable informed deliberation
and decision-making. Effective strategies for increasing
public understanding involve providing forums incorporating
the unique perspectives and attitudes of the public, while
allowing opportunities to learn first-hand from scientists
about genome research and related applications. Through a
partnership between the Duke Institute for Genome Sciences &
Policy (IGSP) and the Museum of Life and Science in Durham,
NC, we developed and piloted a program aimed to bridge the
concepts of formal (public school) and informal
(community-based science museum) science learning with the
experiential context of family and participatory learning.
Called Genome Diner, we piloted the program with 40
genetic/genomic researchers, 76 middle school students and
their parents (n = 83) from Durham, NC. Program impact
was assessed via pre/post surveys for each participant
group. Following participation, parents were significantly
more likely to correctly interpret the implications of a
genome research finding, and both students and parents
indicated higher interest in research as well as higher
confidence in accessing and understanding genome research.
Genetic literacy of parents and students was not affected by
participation in the program, likely due to the relatively
high knowledge scores pre-Diner: 88.3 % and 78.5 %,
respectively. The interactive format of Genome Diner
provided an opportunity for students and parents to explore
and discuss interests and issues about genomic research
alongside genome scientists, positively influencing
attitudes toward genetic research and researchers
themselves. These interactions are critical for maintaining
public interest and knowledge about genomic research and
applications.},
Doi = {10.1007/s10897-013-9577-3},
Key = {fds301325}
}
@article{fds302568,
Author = {Moaddeb, J and Haga, SB},
Title = {Pharmacogenetic testing: Current Evidence of Clinical
Utility.},
Journal = {Ther Adv Drug Saf},
Volume = {4},
Number = {4},
Pages = {155-169},
Year = {2013},
Month = {August},
ISSN = {2042-0986},
url = {http://www.ncbi.nlm.nih.gov/pubmed/24020014},
Abstract = {Over the last decade, the number of clinical pharmacogenetic
tests has steadily increased as understanding of the role of
genes in drug response has grown. However, uptake of these
tests has been slow, due in large part to the lack of robust
evidence demonstrating clinical utility. We review the
evidence behind four pharmacogenetic tests and discuss the
barriers and facilitators to uptake: 1) warfarin (drug
safety and efficacy); 2) clopidogrel (drug efficacy); 3)
codeine (drug efficacy); and 4) abacavir (drug safety).
Future efforts should be directed toward addressing these
issues and considering additional approaches to generating
evidence basis to support clinical use of pharmacogenetic
tests.},
Doi = {10.1177/2042098613485595},
Key = {fds302568}
}
@article{fds301327,
Author = {Haga, SB and Burke, W and Agans, R},
Title = {Primary-care physicians' access to genetic specialists:
an impediment to the routine use of genomic
medicine?},
Journal = {Genet Med},
Volume = {15},
Number = {7},
Pages = {513-514},
Year = {2013},
Month = {July},
url = {http://www.ncbi.nlm.nih.gov/pubmed/23306802},
Abstract = {PURPOSE: The field of genomic medicine is moving beyond the
domain of medical specialties into general care. As a
result, primary care practitioners (PCPs) will be faced with
questions regarding the interpretation, use, and application
of genetic and genomic testing. Several studies have
demonstrated the variable knowledge of PCPs, but few have
assessed PCPs access to genetic specialists and how that may
influence test use. As part of a survey of PCPs on
pharmacogenetic testing, we assessed PCP access to genetic
specialists and its association with referrals and test
ordering. METHODS: We conducted an online/mail survey of a
national sample of PCPs in the U.S. RESULTS: Survey data
indicate that PCP access to genetic specialists is limited,
particularly to those practicing outside of academic medical
centers, negatively impacting test ordering practices.
CONCLUSION: Given the small number of clinical genetic
specialists, collaborative approaches are needed to develop
educational and clinical resources to prepare and guide the
safe and appropriate use of testing by future and current
general practitioners, respectively.},
Doi = {10.1038/gim.2012.168},
Key = {fds301327}
}
@article{fds301323,
Author = {Mills, R and Haga, SB},
Title = {Clinical delivery of pharmacogenetic testing services: a
proposed partnership between genetic counselors and
pharmacists.},
Journal = {Pharmacogenomics},
Volume = {14},
Number = {8},
Pages = {957-968},
Year = {2013},
Month = {June},
url = {http://www.ncbi.nlm.nih.gov/pubmed/23746189},
Abstract = {One of the basic questions in the early uses of
pharmacogenetic (PGx) testing revolves around the clinical
delivery of testing. Because multiple health professionals
may play a role in the delivery of PGx testing, various
clinical delivery models have begun to be studied. We
propose that a partnership between genetic counselors and
pharmacists can assist clinicians in the delivery of
comprehensive PGx services. Based on their expert knowledge
of pharmacokinetics and pharmacodynamics, pharmacists can
facilitate the appropriate application of PGx test results
to adjust medication use as warranted and act as a liaison
to the healthcare team recommending changes in medication
based on test results and patient input. Genetic counselors
are well-trained in genetics as well as risk communication
and counseling methodology, but have limited knowledge of
pharmaceuticals. The complementary knowledge and skill set
supports the partnership between genetic counselors and
pharmacists to provide effective PGx testing
services.},
Doi = {10.2217/pgs.13.76},
Key = {fds301323}
}
@article{fds301326,
Author = {Haga, SB and Barry, WT and Mills, R and Ginsburg, GS and Svetkey, L and Sullivan, J and Willard, HF},
Title = {Public knowledge of and attitudes toward genetics and
genetic testing.},
Journal = {Genet Test Mol Biomarkers},
Volume = {17},
Number = {4},
Pages = {327-335},
Year = {2013},
Month = {April},
url = {http://www.ncbi.nlm.nih.gov/pubmed/23406207},
Abstract = {BACKGROUND: Variable health literacy and genetic knowledge
may pose significant challenges to engaging the general
public in personal genomics, specifically with respect to
promoting risk comprehension and healthy behaviors. METHODS:
We are conducting a multistage study of individual responses
to genomic risk information for Type 2 diabetes mellitus. A
total of 300 individuals were recruited from the general
public in Durham, North Carolina: 60% self-identified as
White; 70% female; and 65% have a college degree. As part of
the baseline survey, we assessed genetic knowledge and
attitudes toward genetic testing. RESULTS: Scores of factual
knowledge of genetics ranged from 50% to 100% (average=84%),
with significant differences in relation to racial groups,
the education level, and age. Scores were significantly
higher on questions pertaining to the inheritance and causes
of disease (mean score 90%) compared to scientific questions
(mean score 77.4%). Scores on the knowledge survey were
significantly higher than scores from European populations.
Participants' perceived knowledge of the social consequences
of genetic testing was significantly lower than their
perceived knowledge of the medical uses of testing. More
than half agreed with the statement that testing may affect
a person's ability to obtain health insurance (51.3%) and
16% were worried about the consequences of testing for
chances of finding a job. CONCLUSIONS: Despite the
relatively high educational status and genetic knowledge of
the study population, we find an imbalance of knowledge
between scientific and medical concepts related to genetics
as well as between the medical applications and societal
consequences of testing, suggesting that more effort is
needed to present the benefits, risks, and limitations of
genetic testing, particularly, at the social and personal
levels, to ensure informed decision making.},
Doi = {10.1089/gtmb.2012.0350},
Key = {fds301326}
}
@article{fds301324,
Author = {Haga, SB and Burke, W and Ginsburg, GS and Mills, R and Agans,
R},
Title = {Primary care physicians' knowledge of and experience with
pharmacogenetic testing},
Journal = {Obstetrical and Gynecological Survey},
Volume = {68},
Number = {2},
Pages = {91-93},
Publisher = {Ovid Technologies (Wolters Kluwer Health)},
Year = {2013},
Month = {February},
ISSN = {0029-7828},
url = {http://dx.doi.org/10.1097/01.ogx.0000427617.89027.ca},
Doi = {10.1097/01.ogx.0000427617.89027.ca},
Key = {fds301324}
}
@article{fds302562,
Author = {Haga, SB and Zhao, JQ},
Title = {Stakeholder views on returning research results.},
Journal = {Adv Genet},
Volume = {84},
Pages = {41-81},
Year = {2013},
ISSN = {0065-2660},
url = {http://www.ncbi.nlm.nih.gov/pubmed/24262096},
Abstract = {While the disclosure of research findings is relevant to all
types of biomedical research, it has garnered particular
attention with respect to genetics and genomics research due
to some of the unique aspects of the data and the high
public profile of the field. In this chapter, we review the
attitudes of stakeholders (research participants,
policymakers, and researchers) to define areas of consensus
regarding the issue of returning research results across and
within groups. In addition to stakeholder attitudes about
obligations and interest in research results, other major
related issues related to returning research results, such
as informed consent, communication of research results, and
cost, are discussed. Given the consensus between
stakeholders to return summary reports of a study's outcomes
and individual research results of clinical significance, we
conclude that the time has come to encourage, if not
require, researchers to consider these issues in the
developmental planning stages of a project and to plan and
budget accordingly.},
Doi = {10.1016/B978-0-12-407703-4.00002-5},
Key = {fds302562}
}
@article{fds302567,
Author = {Mills, R and Voora, D and Peyser, B and Haga, SB},
Title = {Delivering pharmacogenetic testing in a primary care
setting.},
Journal = {Pharmgenomics Pers Med},
Volume = {6},
Pages = {105-112},
Year = {2013},
url = {http://www.ncbi.nlm.nih.gov/pubmed/24101877},
Abstract = {Pharmacogenetic testing refers to a type of genetic test to
predict a patient's likelihood to experience an adverse
event or not respond to a given drug. Despite revision to
several labels of commonly prescribed drugs regarding the
impact of genetic variation, the use of this testing has
been limited in many settings due to a number of factors. In
the primary care setting, the limited office time as well as
the limited knowledge and experience of primary care
practitioners have likely attributed to the slow uptake of
pharmacogenetic testing. This paper provides talking points
for primary care physicians to discuss with patients when
pharmacogenetic testing is warranted. As patients and
physicians become more familiar and accepting of
pharmacogenetic testing, it is anticipated that discussion
time will be comparable to that of other clinical
tests.},
Doi = {10.2147/PGPM.S50598},
Key = {fds302567}
}
@article{fds319081,
Author = {Hresko, A and Haga, SB},
Title = {Insurance coverage policies for personalized
medicine.},
Journal = {J Pers Med},
Volume = {2},
Number = {4},
Pages = {201-216},
Year = {2012},
Month = {October},
url = {http://dx.doi.org/10.3390/jpm2040201},
Abstract = {Adoption of personalized medicine in practice has been slow,
in part due to the lack of evidence of clinical benefit
provided by these technologies. Coverage by insurers is a
critical step in achieving widespread adoption of
personalized medicine. Insurers consider a variety of
factors when formulating medical coverage policies for
personalized medicine, including the overall strength of
evidence for a test, availability of clinical guidelines and
health technology assessments by independent organizations.
In this study, we reviewed coverage policies of the largest
U.S. insurers for genomic (disease-related) and
pharmacogenetic (PGx) tests to determine the extent that
these tests were covered and the evidence basis for the
coverage decisions. We identified 41 coverage policies for
49 unique testing: 22 tests for disease diagnosis, prognosis
and risk and 27 PGx tests. Fifty percent (or less) of the
tests reviewed were covered by insurers. Lack of evidence of
clinical utility appears to be a major factor in decisions
of non-coverage. The inclusion of PGx information in drug
package inserts appears to be a common theme of PGx tests
that are covered. This analysis highlights the variability
of coverage determinations and factors considered,
suggesting that the adoption of personal medicine will
affected by numerous factors, but will continue to be slowed
due to lack of demonstrated clinical benefit.},
Doi = {10.3390/jpm2040201},
Key = {fds319081}
}
@article{fds301373,
Author = {Haga, SB and Burke, W and Ginsburg, GS and Mills, R and Agans,
R},
Title = {Primary care physicians' knowledge of and experience with
pharmacogenetic testing.},
Journal = {Clin Genet},
Volume = {82},
Number = {4},
Pages = {388-394},
Year = {2012},
Month = {October},
url = {http://www.ncbi.nlm.nih.gov/pubmed/22698141},
Abstract = {It is anticipated that as the range of drugs for which
pharmacogenetic testing becomes available expands, primary
care physicians (PCPs) will become major users of these
tests. To assess their training, familiarity, and attitudes
toward pharmacogenetic testing in order to identify barriers
to uptake that may be addressed at this early stage of test
use, we conducted a national survey of a sample of PCPs.
Respondents were mostly white (79%), based primarily in
community-based primary care (81%) and almost evenly divided
between family medicine and internal medicine. The majority
of respondents had heard of PGx testing and anticipated that
these tests are or would soon become a valuable tool to
inform drug response. However, only a minority of
respondents (13%) indicated they felt comfortable ordering
PGx tests and almost a quarter reported not having any
education about pharmacogenetics. Our results indicate that
primary care practitioners envision a major role for
themselves in the delivery of PGx testing but recognize
their lack of adequate knowledge and experience about these
tests. Development of effective tools for guiding PCPs in
the use of PGx tests should be a high priority.},
Doi = {10.1111/j.1399-0004.2012.01908.x},
Key = {fds301373}
}
@article{fds301328,
Author = {Mills, RA and Haga, SB and Ginsburg, GS},
Title = {Genetic testing: clinical and personal utility.},
Journal = {Virtual Mentor},
Volume = {14},
Number = {8},
Pages = {604-609},
Year = {2012},
Month = {August},
url = {http://www.ncbi.nlm.nih.gov/pubmed/23351313},
Doi = {10.1001/virtualmentor.2012.14.8.ecas1-1208},
Key = {fds301328}
}
@article{fds301362,
Author = {Haga, SB and O'Daniel, JM and Tindall, GM and Mills, R and Lipkus, IM and Agans, R},
Title = {Survey of genetic counselors and clinical geneticists' use
and attitudes toward pharmacogenetic testing.},
Journal = {Clin Genet},
Volume = {82},
Number = {2},
Pages = {115-120},
Year = {2012},
Month = {August},
url = {http://www.ncbi.nlm.nih.gov/pubmed/22283474},
Abstract = {Pharmacogenetic (PGx) testing aims to improve therapeutic
outcomes through tailoring treatment based on a patient's
genetic risk for non-response and/or an adverse event. Given
their expertise, geneticists could facilitate the use of PGx
testing; however, the preparedness and perceived role of the
clinical genetics community is unclear. To assess the
attitudes, preparedness, and perceived roles of geneticists
in the delivery of PGx testing, we conducted a survey of
1500 randomly selected board-certified genetic counselors
and clinical geneticists in the United States [response
rate: 37.8% (n = 516)]. Twelve percent of genetic counselors
and 41% of clinical geneticists indicated that they had
ordered or coordinated patient care for PGx testing, a
seemingly high proportion at this early stage of adoption.
Almost all respondents had some education on
pharmacogenetics, although only 28% of counselors and 58% of
clinical geneticists indicated they felt well-informed about
PGx testing. About half of counselors (52%) and clinical
geneticists (46%) felt they would play 'some' role in the
delivery of PGx testing; 17 and 19%, respectively, felt that
they would play 'no' or 'a little' role. At this early stage
of PGx testing, the role of geneticists and genetic
counselors is unclear. However, their experience may aid in
readying PGx testing and informing delivery strategies into
clinical practice.},
Doi = {10.1111/j.1399-0004.2012.01848.x},
Key = {fds301362}
}
@article{fds301363,
Author = {Haga, SB and O'Daniel, JM and Tindall, GM and Mills, R and Lipkus, I and Agans, R},
Title = {Response to Newman et al},
Journal = {Clinical Genetics},
Volume = {82},
Number = {2},
Pages = {203},
Year = {2012},
Month = {August},
ISSN = {0009-9163},
url = {http://dx.doi.org/10.1111/j.1399-0004.2012.01874.x},
Doi = {10.1111/j.1399-0004.2012.01874.x},
Key = {fds301363}
}
@article{fds301368,
Author = {Kraus, WE and Haga, SB and McLeod, HL and Staples, J and Ginsburg,
GS},
Title = {Conference Scene: Is personalized medicine ready for prime
time?},
Journal = {Per Med},
Volume = {9},
Number = {5},
Pages = {475-478},
Year = {2012},
Month = {July},
ISSN = {1741-0541},
url = {http://dx.doi.org/10.2217/pme.12.57},
Abstract = {This article provides a meeting report from the Duke Center
for Personalized Medicine 2012 Symposium, which took place
in Durham, NC, USA, on 29 March 2012. The event titled 'At
the Interface of Clinical Research and Clinical Medicine',
focused on many of the issues that arise as personalized
medicine becomes integrated into clinical care. In
particular, we summarize presentations on various topics:
the future of genomic medicine, opportunities in
pharmacogenomics and genetic testing; challenges in the
clinical implementation of personalized medicine; systems
medicine and biomedical informatics; the policy and
education strategies for adopting personalized medicine; the
common bond between comparative effectiveness and
personalized medicine; and the value of personalized
medicine.},
Doi = {10.2217/pme.12.57},
Key = {fds301368}
}
@article{fds301361,
Author = {Haga, SB and O'Daniel, JM and Tindall, GM and Lipkus, IR and Agans,
R},
Title = {Survey of US public attitudes toward pharmacogenetic
testing.},
Journal = {Pharmacogenomics J},
Volume = {12},
Number = {3},
Pages = {197-204},
Year = {2012},
Month = {June},
url = {http://www.ncbi.nlm.nih.gov/pubmed/21321582},
Abstract = {To assess public attitudes and interest in pharmacogenetic
(PGx) testing, we conducted a random-digit-dial telephone
survey of US adults, achieving a response rate of 42%
(n=1139). Most respondents expressed interest in PGx testing
to predict mild or serious side effects (73±3.29 and
85±2.91%, respectively), guide dosing (91%) and assist with
drug selection (92%). Younger individuals (aged 18-34 years)
were more likely to be interested in PGx testing to predict
serious side effects (vs aged 55+ years), as well as Whites,
those with a college degree, and who had experienced side
effects from medications. However, most respondents
(78±3.14%) were not likely to have a PGx test if there was
a risk that their DNA sample or test result could be shared
without their permission. Given differences in interest
among some groups, providers should clearly discuss the
purpose of testing, alternative testing options (if
available) and policies to protect patient privacy and
confidentiality.},
Doi = {10.1038/tpj.2011.1},
Key = {fds301361}
}
@article{fds301360,
Author = {Haga, SB and Tindall, G and O'Daniel, JM},
Title = {Public perspectives about pharmacogenetic testing and
managing ancillary findings.},
Journal = {Genet Test Mol Biomarkers},
Volume = {16},
Number = {3},
Pages = {193-197},
Year = {2012},
Month = {March},
url = {http://www.ncbi.nlm.nih.gov/pubmed/22047505},
Abstract = {AIMS: Pharmacogenetic (PGx) tests are intended to improve
therapeutic outcomes through predicting a patient's
likelihood to respond to or experience an adverse effect
from a specific treatment. In addition, PGx testing may also
generate ancillary, or incidental, disease information
unrelated to the purpose for which the test was ordered. To
assess public attitudes toward PGx testing, ancillary
disease risk information and related clinical issues, we
conducted a series of focus groups. RESULTS: Forty-five
individuals recruited from Durham, NC, participated in four
focus groups. Overall, participants were enthusiastic about
PGx testing, though expressed concerns about privacy,
confidentiality, and psychological harms associated with
ancillary information. Focus group participants believed
that physicians had a responsibility to disclose ancillary
risk information, but were concerned about managing and
coping with unexpected disease risk information. CONCLUSION:
We find that participants welcomed the integration of PGx
testing into therapeutic decision-making. Public concerns
about PGx testing and ancillary information specifically
centered on personal implications of learning such
additional information, suggesting that patient-provider
discussion of the benefits and risks of testing will be
necessary until public familiarity with these tests
increases.},
Doi = {10.1089/gtmb.2011.0118},
Key = {fds301360}
}
@article{fds301358,
Author = {O'Daniel, JM and Rosanbalm, KD and Boles, L and Tindall, GM and Livingston, TM and Haga, SB},
Title = {Enhancing geneticists' perspectives of the public through
community engagement.},
Journal = {Genet Med},
Volume = {14},
Number = {2},
Pages = {243-249},
Year = {2012},
Month = {February},
url = {http://www.ncbi.nlm.nih.gov/pubmed/22241095},
Abstract = {PURPOSE: Given the rapid pace of genetic and genomic
research and technology development, public engagement on
scientific issues may be mutually beneficial to the research
community and the general public. The public may benefit
from a greater understanding of concepts and new
applications, and researchers can build awareness of public
knowledge, perceptions, and potential concerns about genomic
research and applications. METHODS: We developed and piloted
a public engagement program called Genome Diner to
facilitate dialog between genetic/genomic researchers (n =
40) and middle school students (n = 76) and their parents (n
= 83) from the local community. Program impact was assessed
through pre- and post-Diner surveys for each group. RESULTS:
After participation in Genome Diner, researchers' views were
positively affected regarding the (adult) public's level of
understanding of genetic concepts, beliefs about relevance
of research, and the importance of researcher-community
interaction. CONCLUSION: Through an interactive discussion
with students and parents, researchers gained valuable
insight into public perspectives about genome research. The
engagement format of the Genome Diner program presents a
novel method of fostering trust and relationships between
the two groups and to inform both the public and the
researchers, whose work may depend on public opinion and
participation.},
Doi = {10.1038/gim.2011.29},
Key = {fds301358}
}
@article{fds301369,
Author = {Cho, AH and Killeya-Jones, LA and O'Daniel, JM and Kawamoto, K and Gallagher, P and Haga, S and Lucas, JE and Trujillo, GM and Joy, SV and Ginsburg, GS},
Title = {Effect of genetic testing for risk of type 2 diabetes
mellitus on health behaviors and outcomes: study rationale,
development and design.},
Journal = {BMC Health Serv Res},
Volume = {12},
Pages = {16},
Year = {2012},
Month = {January},
url = {http://www.ncbi.nlm.nih.gov/pubmed/22257365},
Abstract = {BACKGROUND: Type 2 diabetes is a prevalent chronic condition
globally that results in extensive morbidity, decreased
quality of life, and increased health services utilization.
Lifestyle changes can prevent the development of diabetes,
but require patient engagement. Genetic risk testing might
represent a new tool to increase patients' motivation for
lifestyle changes. Here we describe the rationale,
development, and design of a randomized controlled trial
(RCT) assessing the clinical and personal utility of
incorporating type 2 diabetes genetic risk testing into
comprehensive diabetes risk assessments performed in a
primary care setting. METHODS/DESIGN: Patients are recruited
in the laboratory waiting areas of two primary care clinics
and enrolled into one of three study arms. Those interested
in genetic risk testing are randomized to receive either a
standard risk assessment (SRA) for type 2 diabetes
incorporating conventional risk factors plus upfront
disclosure of the results of genetic risk testing ("SRA+G"
arm), or the SRA alone ("SRA" arm). Participants not
interested in genetic risk testing will not receive the
test, but will receive SRA (forming a third, "no-test" arm).
Risk counseling is provided by clinic staff (not study staff
external to the clinic). Fasting plasma glucose, insulin
levels, body mass index (BMI), and waist circumference are
measured at baseline and 12 months, as are patients'
self-reported behavioral and emotional responses to diabetes
risk information. Primary outcomes are changes in insulin
resistance and BMI after 12 months; secondary outcomes
include changes in diet patterns, physical activity, waist
circumference, and perceived risk of developing diabetes.
DISCUSSION: The utility, feasibility, and efficacy of
providing patients with genetic risk information for common
chronic diseases in primary care remain unknown. The study
described here will help to establish whether providing type
2 diabetes genetic risk information in a primary care
setting can help improve patients' clinical outcomes, risk
perceptions, and/or their engagement in healthy behavior
change. In addition, study design features such as the use
of existing clinic personnel for risk counseling could
inform the future development and implementation of care
models for the use of individual genetic risk information in
primary care. TRIAL REGISTRATION: ClinicalTrials.gov:
NCT00849563.},
Doi = {10.1186/1472-6963-12-16},
Key = {fds301369}
}
@article{fds301359,
Author = {Haga, SB and Tindall, G and O'Daniel, JM},
Title = {Professional perspectives about pharmacogenetic testing and
managing ancillary findings.},
Journal = {Genet Test Mol Biomarkers},
Volume = {16},
Number = {1},
Pages = {21-24},
Year = {2012},
Month = {January},
url = {http://www.ncbi.nlm.nih.gov/pubmed/21770772},
Abstract = {AIMS: Pharmacogenetic (PGx) tests, intended to inform
therapeutic decision making through prediction of patient
likelihood to respond to or experience an adverse effect
from a specific treatment, may also generate ancillary, or
incidental, disease information unrelated to the purpose for
which the test was ordered. To assess attitudes toward PGx
testing, ancillary disease risk information, and related
clinical issues, we conducted a series of focus groups among
health professionals. RESULTS: Twenty-one primary care and
genetics professionals from Durham, NC, were recruited to
participate in three focus groups (two of primary care
professionals [PCPs] and one of geneticists). Overall,
interest in PGx testing was positive, though enthusiasm was
reserved among PCPs due to concerns about clinical utility,
insurance coverage, delay of treatment, and ability to
communicate and interpret ancillary disease risk
information. Although many PCPs felt an obligation to
disclose information about ancillary disease risk,
geneticists did not believe that it was always necessary,
noting the complexities of genetic risk results such as
incomplete penetrance. CONCLUSION: This pilot study found
that health professionals' interest in the use of PGx
testing was limited by concerns about the lack of evidence
of clinical utility and their ability to interpret and
communicate ancillary disease risk information to patients.
Additional educational resources, access to genetic
specialists, and clear clinical guidelines about the use of
PGx testing would greatly facilitate appropriate use of
testing.},
Doi = {10.1089/gtmb.2011.0045},
Key = {fds301359}
}
@article{fds301364,
Author = {Kanakamedala, P and Haga, SB},
Title = {Characterization of clinical study populations by race and
ethnicity in biomedical literature.},
Journal = {Ethn Dis},
Volume = {22},
Number = {1},
Pages = {96-101},
Year = {2012},
ISSN = {1049-510X},
url = {http://www.ncbi.nlm.nih.gov/pubmed/22774316},
Abstract = {OBJECTIVE: The importance of race and ethnicity in
biomedical research has long been a subject of debate,
recently heightened by data revealed by the completion of
the sequencing of the human genome and the mapping of human
genetic variation. We aimed to determine whether and how the
reporting of race has changed over the last three decades
and how the practice may differ given study location, where
the journal of publication is based, and decade of
publication. DESIGN: We analyzed a sample of studies
published in the Journal of the American Medical
Association, The Lancet, and the Canadian Medical
Association Journal from 1980 to 2009. MAIN OUTCOME
MEASURES: The number of articles that reported race by
journal and decade and the descriptors used. RESULTS: Of
1867 articles analyzed, 17.30% reported race. The reporting
of race and number of populations reported increased over
time for all three journals. In addition, the diversity of
race/ethnicity descriptors increased, with increased use of
race/ethnicity combinations and nationality of research
subjects. CONCLUSION: Though it has increased over the past
few decades, the reporting of race/ethnicity of study
populations is relatively low, ambiguous and inconsistent,
likely influenced by the uncertain relevance of these
variables to the study's outcomes, study location,
researcher views, and the policies of journals and funding
agencies. Thus, due to the inconsistent and ambiguous
practice of reporting race/ethnicity, comparison of study
outcomes can result in misleading conclusions. Improvements
in standardization of terms and new approaches to
characterize research participants related to race/ethnicity
are imperative.},
Key = {fds301364}
}
@article{fds301367,
Author = {Haga, SB and Kawamoto, K and Agans, R and Ginsburg,
GS},
Title = {Consideration of patient preferences and challenges in
storage and access of pharmacogenetic test
results.},
Journal = {Genet Med},
Volume = {13},
Number = {10},
Pages = {887-890},
Year = {2011},
Month = {October},
url = {http://www.ncbi.nlm.nih.gov/pubmed/21673581},
Abstract = {PURPOSE: Pharmacogenetic testing is one of the primary
drivers of personalized medicine. The use of pharmacogenetic
testing may provide a lifetime of benefits through tailoring
drug dosing and selection of multiple medications to improve
therapeutic outcomes and reduce adverse responses. We aimed
to assess public interest and concerns regarding sharing and
storage of pharmacogenetic test results that would
facilitate the reuse of pharmacogenetic data across a
lifetime of care. METHODS: We conducted a random-digit-dial
phone survey of a sample of the US public. RESULTS: We
achieved an overall response rate of 42% (n = 1139). Most
respondents indicated that they were extremely or somewhat
comfortable allowing their pharmacogenetic test results to
be shared with other doctors involved in their care
management (90% ± 2.18%); significantly fewer respondents
(74% ± 3.27%) indicated that they were extremely or
somewhat comfortable sharing results with their pharmacist
(P < 0.0001). CONCLUSION: Patients, pharmacists, and
physicians will all be critical players in the
pharmacotherapy process. Patients are supportive of sharing
pharmacogenetic test results with physicians and pharmacists
and personally maintaining their test results. However,
further study is needed to understand which options are
needed for sharing, appropriate storage, and patient
education about the relevance of pharmacogenetic test
results to promote consideration of this information by
other prescribing practitioners.},
Doi = {10.1097/GIM.0b013e31822077a5},
Key = {fds301367}
}
@article{fds301355,
Author = {Haga, SB and O'Daniel, JM and Tindall, GM and Lipkus, IR and Agans,
R},
Title = {Public attitudes toward ancillary information revealed by
pharmacogenetic testing under limited information
conditions.},
Journal = {Genet Med},
Volume = {13},
Number = {8},
Pages = {723-728},
Year = {2011},
Month = {August},
url = {http://www.ncbi.nlm.nih.gov/pubmed/21633294},
Abstract = {PURPOSE: Pharmacogenetic testing can inform drug dosing and
selection by aiding in estimating a patient's genetic risk
of adverse response and/or failure to respond. Some
pharmacogenetic tests may generate ancillary clinical
information unrelated to the drug treatment question for
which testing is done-an informational "side effect." We
aimed to assess public interest and concerns about
pharmacogenetic tests and ancillary information. METHODS: We
conducted a random-digit-dial phone survey of a sample of
the US public. RESULTS: We achieved an overall response rate
of 42% (n = 1139). When the potential for ancillary
information was presented, 85% (±2.82%) of respondents
expressed interest in pharmacogenetic testing, compared with
82% (±3.02%) before discussion of ancillary information.
Most respondents (89% ± 2.27%) indicated that physicians
should inform patients that a pharmacogenetic test may
reveal ancillary risk information before testing is ordered.
Respondents' interest in actually learning of the ancillary
risk finding significantly differed based on disease
severity, availability of an intervention, and test
validity, even after adjusting for age, gender, education,
and race. CONCLUSION: Under the limited information
conditions presented in the survey, the potential of
ancillary information does not negatively impact public
interest in pharmacogenetic testing. Interest in learning
ancillary information is well aligned with the public's
desire to be informed about potential benefits and risks
before testing, promoting patient autonomy.},
Doi = {10.1097/GIM.0b013e31821afcc0},
Key = {fds301355}
}
@article{fds301370,
Author = {Haga, SB and Carrig, MM and O'Daniel, JM and Orlando, LA and Killeya-Jones, LA and Ginsburg, GS and Cho, A},
Title = {Genomic risk profiling: attitudes and use in personal and
clinical care of primary care physicians who offer risk
profiling.},
Journal = {J Gen Intern Med},
Volume = {26},
Number = {8},
Pages = {834-840},
Year = {2011},
Month = {August},
url = {http://www.ncbi.nlm.nih.gov/pubmed/21311998},
Abstract = {BACKGROUND: Genomic risk profiling involves the analysis of
genetic variations linked through statistical associations
to a range of disease states. There is considerable
controversy as to how, and even whether, to incorporate
these tests into routine medical care. OBJECTIVE: To assess
physician attitudes and uptake of genomic risk profiling
among an 'early adopter' practice group. DESIGN: We surveyed
members of MDVIP, a national group of primary care
physicians (PCPs), currently offering genomic risk profiling
as part of their practice. POPULATION: All physicians in the
MDVIP network (N = 356) RESULTS: We obtained a 44% response
rate. One third of respondents had ordered a test for
themselves and 42% for a patient. The odds of having ordered
personal testing were 10.51-fold higher for those who felt
well-informed about genomic risk testing (p < 0.0001).
Of those who had not ordered a test for themselves, 60%
expressed concerns for patients regarding discrimination by
life and long-term/disability insurers, 61% about test cost,
and 62% about clinical utility. The odds of ordering testing
for their patients was 8.29-fold higher among respondents
who had ordered testing for themselves (p < 0.0001). Of
those who had ordered testing for patients, concerns about
insurance coverage (p = 0.014) and uncertain clinical
utility (p = 0.034) were associated with a lower relative
frequency of intention to order testing again in the future.
CONCLUSIONS: Our findings demonstrate that respondent
familiarity was a key predictor of physician ordering
behavior and clinical utility was a primary concern for
genomic risk profiling. Educational and interpretive support
may enhance uptake of genomic risk profiling.},
Doi = {10.1007/s11606-011-1651-7},
Key = {fds301370}
}
@article{fds301354,
Author = {Haga, SB and Burke, W},
Title = {Practical ethics: establishing a pathway to benefit for
complex pharmacogenomic tests.},
Journal = {Clin Pharmacol Ther},
Volume = {90},
Number = {1},
Pages = {25-27},
Year = {2011},
Month = {July},
url = {http://www.ncbi.nlm.nih.gov/pubmed/21691271},
Abstract = {Pharmacogenomic tests offer a promising strategy to improve
the safety and efficacy of drug treatment. Compelling
examples, such as HLA-B*5701 testing to identify patients at
risk for abacavir-associated hypersensitivity, are already
changing clinical care. However, the level of evidence
required to establish clinical utility is often the subject
of debate. Determining the most efficient and effective
pathway to benefit for a given test is therefore both a
practical and an ethical concern.},
Doi = {10.1038/clpt.2011.71},
Key = {fds301354}
}
@article{fds301356,
Author = {Haga, SB and O'Daniel, J},
Title = {Public perspectives regarding data-sharing practices in
genomics research.},
Journal = {Public Health Genomics},
Volume = {14},
Number = {6},
Pages = {319-324},
Year = {2011},
url = {http://www.ncbi.nlm.nih.gov/pubmed/21430368},
Abstract = {BACKGROUND: Genomics research data are often widely shared
through a variety of mechanisms including publication,
meetings and online databases. Re-identification of research
participants from sequence data has been shown possible,
raising concerns of participants' privacy. METHODS: In
2008-09, we convened 10 focus groups in Durham, N.C. to
explore attitudes about how genomic research data were
shared amongst the research community, communication of
these practices to participants and how different policies
might influence participants' likelihood to consent to a
genetic/genomic study. Focus groups were audio-recorded and
transcripts were complemented by a short anonymous survey.
Of 100 participants, 73% were female and 76%
African-American, with a median age of 40-49 years. RESULTS:
Overall, we found that discussants expressed concerns about
privacy and confidentially of data shared through online
databases. Although discussants recognized the benefits of
data-sharing, they believed it was important to inform
research participants of a study's data-sharing plans during
the informed consent process. Discussants were significantly
more likely to participate in a study that planned to
deposit data in a restricted access online database compared
to an open access database (p < 0.00001). CONCLUSIONS: The
combination of the potential loss of privacy with concerns
about data access and identity of the research sponsor
warrants disclosure about a study's data-sharing plans
during the informed consent process.},
Doi = {10.1159/000324705},
Key = {fds301356}
}
@article{fds301357,
Author = {O'Daniel, J and Haga, SB},
Title = {Public perspectives on returning genetics and genomics
research results.},
Journal = {Public Health Genomics},
Volume = {14},
Number = {6},
Pages = {346-355},
Year = {2011},
url = {http://www.ncbi.nlm.nih.gov/pubmed/21555865},
Abstract = {BACKGROUND: The debate about returning research results has
revealed different perspectives among researchers,
participants and advisory groups with participants generally
interested in obtaining their results. Given this
preference, policies regarding return of individual research
results may affect whether a potential subject chooses to
participate in a study. Public attitudes, particularly those
of African-Americans, toward this issue have been
understudied. METHODS: In 2008-2009, we convened 10 focus
groups in Durham, N.C. to explore attitudes about returning
research results and how different policies might influence
their likelihood to participate in genetic/genomic studies.
Transcripts were complimented by a short anonymous survey.
Of 100 participants, 73% were female and 76%
African-American with a median age of 40-49 years. RESULTS:
Although there was general interest in obtaining genetics
research results, particularly individual results,
discussants recognized many potential complexities. The
option to obtain research results (individual or summary)
was clearly valued and lack thereof was potentially a
deterrent for genetic/genomic research enrollment.
CONCLUSIONS: Providing the option to learn research results
may help strengthen relationships between investigators and
participants and thereby serve as a positive influencing
factor for minority communities. Consideration of the
broader implications of returning research results is
warranted. Engaging diverse publics is essential to gain a
balance between the interests and burdens of participants
and investigators.},
Doi = {10.1159/000324933},
Key = {fds301357}
}
@article{fds301352,
Author = {Heaney, C and Tindall, G and Lucas, J and Haga, SB},
Title = {Researcher practices on returning genetic research
results.},
Journal = {Genet Test Mol Biomarkers},
Volume = {14},
Number = {6},
Pages = {821-827},
Year = {2010},
Month = {December},
url = {http://www.ncbi.nlm.nih.gov/pubmed/20939736},
Abstract = {BACKGROUND/AIMS: as genetic and genomic research
proliferates, debate has ensued about returning results to
participants. In addition to consideration of the benefits
and harms to participants, researchers must also consider
the logistical and financial feasibility of returning
research results. However, little data exist of actual
researcher practices. METHODS: we conducted an online survey
of 446 corresponding authors of genetic/genomic studies
conducted in the United States and published in 2006-2007 to
assess the frequency with which they considered, offered to,
or actually returned research results, what factors
influenced these decisions, and the method of communicating
results. RESULTS: the response rate was 24% (105/446).
Fifty-four percent of respondents considered the issue of
returning research results to participants, 28% offered to
return individual research results, and 24% actually
returned individual research results. Of those who
considered the issue of returning research results during
the study planning phase, the most common factors considered
were whether research results were deemed clinically useful
(18%) and respect for participants (13%). Researchers who
had a medical degree and conducted studies on children were
significantly more likely to offer to return or actually
return individual results compared to those with a Ph.D.
only. CONCLUSIONS: we speculate that issues associated with
clinical validity and respect for participants dominated
concerns of time and expense given the prominent and
continuing ethical debates surrounding genetics and genomics
research. The substantial number of researchers who did not
consider returning research results suggests that
researchers and institutional review boards need to devote
more attention to a topic about which research participants
are interested.},
Doi = {10.1089/gtmb.2010.0066},
Key = {fds301352}
}
@article{fds301353,
Author = {Surh, LC and Pacanowski, MA and Haga, SB and Hobbs, S and Lesko, LJ and Gottlieb, S and Papaluca-Amati, M and Patterson, SD and Hughes, AR and Kim, M-J and Close, SL and Mosteller, M and Zineh, I and Dechairo, B and Cohen, NA},
Title = {Learning from product labels and label changes: how to build
pharmacogenomics into drug-development programs.},
Journal = {Pharmacogenomics},
Volume = {11},
Number = {12},
Pages = {1637-1647},
Year = {2010},
Month = {December},
ISSN = {1462-2416},
url = {http://dx.doi.org/10.2217/pgs.10.138},
Abstract = {The 2010 US FDA-Drug Industry Association (DIA)
Pharmacogenomics (PGx) Workshop follows a series that began
in 2002 bringing together multidisciplinary experts spanning
regulatory authorities, medical research, healthcare and
industry. This report summarizes the 'Building PGx into
Labels' sessions from the workshop, which discussed the
critical elements in developing PGx outcomes leading to
product labels that inform efficacy and/or safety. Examples
were drawn from US prescribing information, which integrated
PGx knowledge into medical decisions (e.g., panitumumab,
warfarin and clopidogrel). Attendees indicated the need for
broader dialog and for guidelines on evidentiary
considerations for PGx to be included into product labels.
Also discussed was the understanding of appropriate PGx
placement on labels; how to encourage adoption by medical
communities of label recommendations on PGx tests; and,
given the global nature of drug development, worldwide
considerations including European Summary of Product
Characteristics.},
Doi = {10.2217/pgs.10.138},
Key = {fds301353}
}
@article{fds301351,
Author = {Haga, SB},
Title = {Analysis of educational materials and destruction/opt-out
initiatives for storage and use of residual newborn
screening samples.},
Journal = {Genet Test Mol Biomarkers},
Volume = {14},
Number = {5},
Pages = {587-592},
Year = {2010},
Month = {October},
url = {http://www.ncbi.nlm.nih.gov/pubmed/20858049},
Abstract = {In recent years, the storage and use of residual newborn
screening (NBS) samples has gained attention. To inform
ongoing policy discussions, this article provides an update
of previous work on new policies, educational materials, and
parental options regarding the storage and use of residual
NBS samples. A review of state NBS Web sites was conducted
for information related to the storage and use of residual
NBS samples in January 2010. In addition, a review of
current statutes and bills introduced between 2005 and 2009
regarding storage and/or use of residual NBS samples was
conducted. Fourteen states currently provide information
about the storage and/or use of residual NBS samples. Nine
states provide parents the option to request destruction of
the residual NBS sample after the required storage period or
the option to exclude the sample for research uses. In the
coming years, it is anticipated that more states will
consider policies to address parental concerns about the
storage and use of residual NBS samples. Development of new
policies regarding storage and use of residual NBS samples
will require careful consideration of impact on NBS
programs, parent and provider educational materials, and
respect for parents among other issues.},
Doi = {10.1089/gtmb.2010.0010},
Key = {fds301351}
}
@article{fds301350,
Author = {O'Daniel, JM and Haga, SB and Willard, HF},
Title = {Considerations for the impact of personal genome
information: a study of genomic profiling among genetics and
genomics professionals.},
Journal = {J Genet Couns},
Volume = {19},
Number = {4},
Pages = {387-401},
Year = {2010},
Month = {August},
url = {http://www.ncbi.nlm.nih.gov/pubmed/20352309},
Abstract = {With the expansion of genomic-based clinical applications,
it is important to consider the potential impact of this
information particularly in terms of how it may be
interpreted and applied to personal perceptions of health.
As an initial step to exploring this question, we conducted
a study to gain insight into potential psychosocial and
health motivations for, as well as impact associated with,
undergoing testing and disclosure of individual "variomes"
(catalogue of genetic variations). To enable the collection
of fully informed opinions, 14 participants with advanced
training in genetics underwent whole-genome profiling and
received individual reports of estimated genomic ancestry,
genotype data and reported disease associations. Emotional,
cognitive and health behavioral impact was assessed through
one-on-one interviews and questionnaires administered
pre-testing and 1-week and 3-months post-testing.
Notwithstanding the educational and professional bias of our
study population, the results identify several areas of
research for consideration within additional populations.
With the development of new and less costly approaches to
genome risk profiling, now available for purchase
direct-to-consumers, it is essential that genome science
research be conducted in parallel with studies assessing the
societal and policy implications of genome information for
personal use.},
Doi = {10.1007/s10897-010-9297-x},
Key = {fds301350}
}
@article{fds301349,
Author = {Haga, SB},
Title = {Impact of limited population diversity of genome-wide
association studies.},
Journal = {Genet Med},
Volume = {12},
Number = {2},
Pages = {81-84},
Year = {2010},
Month = {February},
url = {http://www.ncbi.nlm.nih.gov/pubmed/20057316},
Abstract = {The article describes the limited population diversity of
genome-wide association studies and its resulting impact on
the development of commercial genetic tests with restricted
applicability and usefulness to certain groups, potentially
increasing existing disparities. To enable development of
new clinical tools applicable to all groups, much more focus
is needed to engage minority communities to enroll in
genetics or genomic research studies and on investigators to
reach out to underrepresented communities.},
Doi = {10.1097/GIM.0b013e3181ca2bbf},
Key = {fds301349}
}
@article{fds301348,
Author = {O'Daniel, J and Lucas, J and Deverka, P and Ermentrout, D and Silvey, G and Lobach, DF and Haga, SB},
Title = {Factors influencing uptake of pharmacogenetic testing in a
diverse patient population.},
Journal = {Public Health Genomics},
Volume = {13},
Number = {1},
Pages = {48-54},
Year = {2010},
url = {http://www.ncbi.nlm.nih.gov/pubmed/19407441},
Abstract = {BACKGROUND: The successful integration of pharmacogenetic
(PGx) testing into clinical care will require attention to
patient attitudes. In this study, we aimed to identify the
major reasons why patients would or would not consider PGx
testing and whether these factors differed by race,
socioeconomic and insurance status, and medical history.
METHODS: We developed and conducted a survey within the
adult patient population of the Duke Family Medicine Center.
RESULTS: Of 75 completed surveys (65% African-American), 77%
indicated they were 'very likely' or 'somewhat likely' to
take a PGx test. Respondents who had experienced a side
effect were significantly more likely to indicate they would
take a PGx test and expressed greater interest in learning
more about testing than those who had not. Drug safety and
effectiveness were the major reasons to have PGx testing.
Privacy concerns and lack of insurance coverage for testing
were the major reasons to decline testing. CONCLUSIONS: We
found no differences in interest in PGx tests by race or
socioeconomic status, but found stronger interest from those
with a history of side effects and private insurance. While
the overall support of PGx testing is encouraging, greater
reassurance of medical privacy and development of
educational resources are needed.},
Doi = {10.1159/000217795},
Key = {fds301348}
}
@article{fds301347,
Author = {Haga, SB and Terry, SF},
Title = {Ensuring the safe use of genomic medicine in
children.},
Journal = {Clin Pediatr (Phila)},
Volume = {48},
Number = {7},
Pages = {703-708},
Year = {2009},
Month = {September},
url = {http://www.ncbi.nlm.nih.gov/pubmed/19448129},
Abstract = {Several clinical guidelines recommend that genetic testing
in children be limited to tests with immediate clinical
benefit. However, use of genome risk profiling will not
likely meet this requirement, as the benefits are
anticipated to be years away. Children who are at higher
risk, though, will benefit the most from early initiation of
treatment or interventions. The shift in benefit from
immediate to long-term benefit warrants a reevaluation of
the current practices of testing in children. In this
commentary, the authors advocate the use of genomic risk
profiling to identify children at increased risk who would
benefit from early intervention, but recognize that its
integration in clinical practice for this population will
require a more nuanced approach to delivery and follow-up.
In particular, the importance of counseling, context,
consent, communication, and follow-up in the delivery of
genomic risk testing to children and adolescents is
highlighted.},
Doi = {10.1177/0009922809335736},
Key = {fds301347}
}
@article{fds301345,
Author = {Haga, SB},
Title = {Ethical issues of predictive genetic testing for
diabetes.},
Journal = {Journal of diabetes science and technology},
Volume = {3},
Number = {4},
Pages = {781-788},
Year = {2009},
Month = {July},
url = {http://www.ncbi.nlm.nih.gov/pubmed/20144329},
Abstract = {With the rising number of individuals affected with diabetes
and the significant health care costs of treatment, the
emphasis on prevention is key to controlling the health
burden of this disease. Several genetic and genomic studies
have identified genetic variants associated with increased
risk to diabetes. As a result, commercial testing is
available to predict an individual's genetic risk. Although
the clinical benefits of testing have not yet been
demonstrated, it is worth considering some of the ethical
implications of testing for this common chronic disease. In
this article, I discuss several issues that should be
considered during the translation of predictive testing for
diabetes, including familial implications, improvement of
risk communication, implications for behavioral change and
health outcomes, the Genetic Information Nondiscrimination
Act, direct-to-consumer testing, and appropriate age of
testing.},
Doi = {10.1177/193229680900300427},
Key = {fds301345}
}
@article{fds301346,
Author = {Haga, SB and Warner, LR and O'Daniel, J},
Title = {The potential of a placebo/nocebo effect in
pharmacogenetics.},
Journal = {Public Health Genomics},
Volume = {12},
Number = {3},
Pages = {158-162},
Year = {2009},
url = {http://www.ncbi.nlm.nih.gov/pubmed/19204418},
Abstract = {Pharmacogenetic testing holds great promise to improve
health outcomes and reduce adverse drug responses through
enhanced selection of therapeutic agents. Since drug
responses can be manipulated by verbal suggestions, it is of
particular interest to understand the potential impact of
pharmacogenetic test results on drug response. Placebo and
nocebo-like effects may be possible due to the suggestive
nature of pharmacogenetic information that a drug will or
will not likely lead to improved health outcomes. For
example, pharmacogenetic testing could provide further
reassurance to patients that a given drug will be effective
and/or cause minimal side effects. However, pharmacogenetic
information could adversely affect drug response through
negative expectations that a drug will be less than
optimally effective or cause an adverse response, known as a
nocebo-like effect. Therefore, a patient's perceived value
of testing, their understanding of the test results, and the
manner in which they are communicated may influence
therapeutic outcome. As such, physicians should consider the
potential effect of pharmacogenetic test results on
therapeutic outcome when communicating results to patients.
Studies are needed to investigate the impact of
pharmacogenetic information of therapeutic
outcome.},
Doi = {10.1159/000189628},
Key = {fds301346}
}
@article{fds301344,
Author = {Haga, SB and Burke, W},
Title = {Pharmacogenetic testing: not as simple as it
seems.},
Journal = {Genet Med},
Volume = {10},
Number = {6},
Pages = {391-395},
Year = {2008},
Month = {June},
url = {http://www.ncbi.nlm.nih.gov/pubmed/18496219},
Abstract = {Pharmacogenetics has the potential to help guide treatment
decisions by tailoring appropriate drugs and dosages to
patients most likely to benefit. This straightforward
clinical goal has led some to suggest that pharmacogenetic
testing is free of ethical concerns. However, a number of
potential risks and clinical uncertainties arise in
considering the use of these new tools in clinical care. We
propose a classification of pharmacogenetic tests to
identify and prioritize the policy issues that will need to
be addressed to ensure appropriate delivery of
pharmacogenetic testing. We use the classification framework
to consider the benefits and risks associated with ancillary
information, timing of testing, and storage and retrieval of
pharmacogenetic test results among health professionals.
These issues have implications for informed consent and
genetic counseling requirements, and for the role of health
professionals.},
Doi = {10.1097/GIM.0b013e31817701d4},
Key = {fds301344}
}
@article{fds301343,
Author = {Haga, SB and Willard, HF},
Title = {Letting the genome out of the bottle.},
Journal = {N Engl J Med},
Volume = {358},
Number = {20},
Pages = {2184},
Year = {2008},
Month = {May},
ISSN = {0028-4793},
url = {http://dx.doi.org/10.1056/NEJMc086053},
Doi = {10.1056/NEJMc086053},
Key = {fds301343}
}
@article{fds301371,
Author = {Haga, SB and Beskow, LM},
Title = {Ethical, legal, and social implications of biobanks for
genetics research.},
Journal = {Adv Genet},
Volume = {60},
Pages = {505-544},
Year = {2008},
ISSN = {0065-2660},
url = {http://www.ncbi.nlm.nih.gov/pubmed/18358331},
Abstract = {The elucidation of the causes of complex diseases pivots on
understanding the interaction between biological (genetic)
and environmental factors that give rise to disease risk.
The modest effects of genetic factors in complex diseases
supports the need for large-scale studies of high-quality
human biological materials, paired with detailed clinical
data, to adequately detect these effects. To this end,
biobanks or biorepositories have been developed around the
world, by public and private entities alike, to provide
researchers the opportunity to study collections of human
biospecimens annotated with clinical and other
health-related measurements. It has been estimated that more
than 270 million tissue samples are stored in the U.S.,
expanding at a rate of approximately 20 million samples
annually. In this chapter, we discuss several ethical,
legal, and social issues that have been raised surrounding
biobanks, including recruitment of vulnerable populations,
informed consent, data disclosure to participants,
intellectual property, and privacy and security. Throughout
the chapter, we will highlight experiences of national
biobanks in Iceland, the U.K., Sweden, and Estonia, and the
proposal for a U.S. population cohort study. The dependence
on public participation requires clear and transparent
policies developed through inclusive processes.},
Doi = {10.1016/S0065-2660(07)00418-X},
Key = {fds301371}
}
@article{fds301372,
Author = {Silvey, GM and Haga, SB and O'Daniel, JM and Deverka, P and Ermentrout,
DM and Anstrom, KJ and Lobach, DF},
Title = {Determining user preferences between touch and pen data
entry methods in the Tablet PC computing
environment.},
Journal = {AMIA Annu Symp Proc},
Pages = {1115},
Year = {2007},
Month = {October},
url = {http://www.ncbi.nlm.nih.gov/pubmed/18694212},
Abstract = {Tablet personal computers (PCs) are becoming common in the
clinical environment. In a recent survey comparing mobile
devices, the Tablet PC was perceived to have made the most
significant difference in the delivery of healthcare. As the
use of Tablet PC technology increases, understanding which
features are most usable for data entry becomes important.
The modality used for data entry on the Tablet PC has
evolved. Initially, most Tablet PCs required the use of a
stylus or specialized pen for user interaction with the
system. Recently, touch screen technology has become
available on the Tablet PCs. Tablet PCs with touch screens
allow the user to interact with the system using their
finger instead of a pen. Little information is available is
available concerning user preferences regarding the modality
used for data entry on the Tablet PC. In this project we
assessed the usability of the two data entry modalities by
directly comparing a pen-based and a touch-based Tablet PC
through focus groups. This project was part of a Duke IRB
approved study designed to assess patient attitudes towards
the clinical use of pharmacogenetic data.},
Key = {fds301372}
}
@article{fds301341,
Author = {Haga, SB and Thummel, KE and Burke, W},
Title = {Adding pharmacogenetics information to drug labels: lessons
learned.},
Journal = {Pharmacogenet Genomics},
Volume = {16},
Number = {12},
Pages = {847-854},
Year = {2006},
Month = {December},
ISSN = {1744-6872},
url = {http://www.ncbi.nlm.nih.gov/pubmed/17108808},
Abstract = {The US Food and Drug Administration approved a revised
package insert for two cancer drugs to include information
about the increased risk of severe adverse events owing to
enzyme deficiencies caused by genetic variants. The label
revisions stopped short of recommending or requiring
pharmacogenetic testing prior to or following an adverse
event. Despite (or because of) the lack of specific
recommendations, we believe the actions taken by US Food and
Drug Administration will have implications for
pharmacogenetics research, clinical integration, and other
policy considerations. We review the reasons behind the
cautious label changes and discuss some of the lessons that
can be learned from these experiences.},
Doi = {10.1097/01.fpc.0000236322.88433.ac},
Key = {fds301341}
}
@article{fds301342,
Author = {Haga, SB and Willard, HF},
Title = {Defining the spectrum of genome policy.},
Journal = {Nat Rev Genet},
Volume = {7},
Number = {12},
Pages = {966-972},
Year = {2006},
Month = {December},
ISSN = {1471-0056},
url = {http://www.ncbi.nlm.nih.gov/pubmed/17139328},
Abstract = {Many achievements in the genome sciences have been
facilitated by policies that have prioritized genome
research, secured funding and raised public and
health-professional awareness. Such policies should address
ethical, legal and social concerns, and are as important to
the scientific and commercial development of the field as
the science itself. On occasion, policy issues take
precedence over science, particularly when impasses are
encountered or when public health or money is at stake. Here
we discuss the spectrum of current issues and debates in
genome policy, and how to actively engage all affected
stakeholders to promote effective policy
making.},
Doi = {10.1038/nrg2003},
Key = {fds301342}
}
@article{fds301340,
Author = {Haga, SB},
Title = {Genomics-based labeling and attribution: a case for
integrating social sciences into personalized medicine
research.},
Journal = {Per Med},
Volume = {3},
Number = {3},
Pages = {317-323},
Year = {2006},
Month = {August},
ISSN = {1741-0541},
url = {http://dx.doi.org/10.2217/17410541.3.3.317},
Abstract = {As the field of genomics uncovers the etiology and
pathophysiological mechanisms of disease, we will gain a
greater understanding of the causes of disease, leading to
preventive interventions, early diagnoses and new and
improved treatments. Although understanding the specific
roles of environment and genetics in disease onset and
development will most likely improve health outcomes, the
impact of this information for the individual and public
remains to be seen. Understanding what factors influence
individual and public perceptions and behavioral
consequences related to genome-based disease labels and
attributions will be critical to a successful transition for
personalized medicine. To better understand the impact of
genomic-based disease labeling and attribution, social
scientists need to be involved in clinical genomics studies
to assess the consequences of the use of and response to new
personalized diagnoses and treatments.},
Doi = {10.2217/17410541.3.3.317},
Key = {fds301340}
}
@article{fds301366,
Author = {Haga, SB and Ginsburg, GS},
Title = {Prescribing BiDil: is it black and white?},
Journal = {J Am Coll Cardiol},
Volume = {48},
Number = {1},
Pages = {12-14},
Year = {2006},
Month = {July},
url = {http://www.ncbi.nlm.nih.gov/pubmed/16814642},
Abstract = {The approval of BiDil as an adjunct treatment in
self-identified blacks with heart failure raises questions
regarding the underlying etiology of drug response in this
target population and the ability to accurately identify
patients who are most likely to benefit. Preliminary data
have indicated that differences in nitric oxide synthesis
between groups may account for differences in response to
BiDil and genetic studies have begun to elucidate the
mechanism of these differences. Until more accurate
selection criteria are developed to identify patients who
are most likely to benefit, both clinicians and the general
public will need to consider the unique issues raised by
BiDil.},
Doi = {10.1016/j.jacc.2006.04.017},
Key = {fds301366}
}
@article{fds301339,
Author = {Haga, SB},
Title = {Teaching resources for genetics.},
Journal = {Nat Rev Genet},
Volume = {7},
Number = {3},
Pages = {223-229},
Year = {2006},
Month = {March},
ISSN = {1471-0056},
url = {http://www.ncbi.nlm.nih.gov/pubmed/16462854},
Abstract = {Genetics education is essential for preparing the public to
engage in an informed debate about the future of genetics
research and how its applications affect human health and
the environment. This article provides an overview of
genetics education resources that are available online, and
is relevant to students in secondary education, health
professionals, geneticists and the public. It also describes
an integrated approach to teaching genetics, emphasizes the
need for continuing teacher education, and encourages the
involvement of geneticists and health professionals in
providing a teaching resource.},
Doi = {10.1038/nrg1803},
Key = {fds301339}
}
@article{fds301365,
Author = {Ginsburg, GS and Haga, SB},
Title = {Translating genomic biomarkers into clinically useful
diagnostics.},
Journal = {Expert Rev Mol Diagn},
Volume = {6},
Number = {2},
Pages = {179-191},
Year = {2006},
Month = {March},
url = {http://www.ncbi.nlm.nih.gov/pubmed/16512778},
Abstract = {The landmark sequencing of the human genome has ushered in a
new field of large-scale research. Advances in understanding
the molecular basis of disease have opened up new
opportunities to develop genomics-based tools to diagnose,
predict disease onset or recurrence, tailor treatment
options, and assess treatment response. Although still in
the early stages of research and development, genomic
biomarker research has the capability of providing a
comprehensive insight into pathophysiological processes as
well as more precise predictors of outcome not previously
attainable with traditional biomarkers. Before genomic
biomarkers are incorporated into clinical practice, several
issues will need to be addressed in order to generate the
necessary levels of evidence to demonstrate analytical and
clinical validity and utility. In addition, efforts will be
needed to educate health professionals and the public about
genomics-based tools, revise regulatory oversight
mechanisms, and ensure privacy safeguards of the information
generated from these new tests.},
Doi = {10.1586/14737159.6.2.179},
Key = {fds301365}
}
@article{fds343218,
Author = {Rich, EC and Burke, W and Heaton, CJ and Haga, S and Pinsky, L and Short,
MP and Acheson, L},
Title = {Erratum: Reconsidering the family history in primary care
(Journal of General Internal Medicine (2004) 19
(273-280))},
Journal = {Journal of General Internal Medicine},
Volume = {20},
Number = {3},
Pages = {315},
Year = {2005},
Month = {March},
url = {http://dx.doi.org/10.1111/j.1525-1497.2005.00bmi.x},
Doi = {10.1111/j.1525-1497.2005.00bmi.x},
Key = {fds343218}
}
@article{fds301338,
Author = {Haga, SB},
Title = {Embracing our duty},
Journal = {American Journal of Human Genetics},
Volume = {76},
Number = {4},
Pages = {547},
Publisher = {Elsevier BV},
Year = {2005},
Month = {January},
ISSN = {0002-9297},
url = {http://dx.doi.org/10.1086/429097},
Doi = {10.1086/429097},
Key = {fds301338}
}
@article{fds301336,
Author = {Haga, SB and Burke, W},
Title = {Using pharmacogenetics to improve drug safety and
efficacy.},
Journal = {JAMA},
Volume = {291},
Number = {23},
Pages = {2869-2871},
Year = {2004},
Month = {June},
url = {http://dx.doi.org/10.1001/jama.291.23.2869},
Doi = {10.1001/jama.291.23.2869},
Key = {fds301336}
}
@article{fds301337,
Author = {Rich, EC and Burke, W and Heaton, CJ and Haga, S and Pinsky, L and Short,
MP and Acheson, L},
Title = {Reconsidering the family history in primary
care.},
Journal = {J Gen Intern Med},
Volume = {19},
Number = {3},
Pages = {273-280},
Publisher = {Springer Nature},
Year = {2004},
Month = {March},
ISSN = {0884-8734},
url = {http://dx.doi.org/10.1111/j.1525-1497.2004.30401.x},
Abstract = {OBJECTIVE: The purpose of this paper is to review the role
of the family history in predictive genetic testing,
describe how family history taking is practiced in adult
primary care, identify the current barriers to appropriate
application of the family history, and outline the
requirements for a new family history tool for primary care.
DESIGN: We reviewed current perspectives on the family
history, identifying key references in the medical
literature and web-based family history tools through
discussions with multiple content experts in clinical
genetics, family medicine, and internal medicine. We
conducted a Medline query using the search terms family
history and primary care to identify references from the
past 10 years. To illustrate the usefulness of family
history information, we calculated the predictive value of
family history and genetic information for familial
adenomatous polyposis using current references and standard
formulas. We identified paper and web-based family history
tools through discussions with content experts. We also
conducted a search on the World Wide Web to identify
resources for electronic medical record and family history.
RESULTS: The family history is the most important tool for
diagnosis and risk assessment in medical genetics, and
promises to serve as a critical element in the use of
predictive genetic testing in primary care. Traditional
medical education about family history has often been
unsophisticated and use of family history in adult primary
care has been limited, compounded by multiple substantive
barriers. Although there are numerous paper and
computer-based aides for taking the family history, none
currently meets all the needs of adult primary care.
CONCLUSIONS: The patient's family history remains a critical
element in risk assessment for many conditions, but
substantive barriers impede application in primary care
practice, and evidence for its contribution to improved
health outcomes is limited in this setting. Short of radical
changes in reimbursement, new tools will be required to aid
primary care physicians in the efficient collection and
application of patient family history in the era of genetic
testing.},
Doi = {10.1111/j.1525-1497.2004.30401.x},
Key = {fds301337}
}
@article{fds301335,
Author = {Haga, SB and Khoury, MJ and Burke, W},
Title = {Genomic profiling to promote a healthy lifestyle: not ready
for prime time.},
Journal = {Nat Genet},
Volume = {34},
Number = {4},
Pages = {347-350},
Year = {2003},
Month = {August},
url = {http://dx.doi.org/10.1038/ng0803-347},
Abstract = {Genomic profiling has the potential to usher in a revolution
of personalized healthcare and disease prevention. But
evidence to support genomic profiling is inconsistent, and
data on the health outcome benefits based on such testing
are lacking. For genomic profiling to become valid and
useful, well designed epidemiologic studies and thorough
clinical evaluations of recommended interventions based on
genotype are required.},
Doi = {10.1038/ng0803-347},
Key = {fds301335}
}
@article{fds301334,
Author = {Haga, SB and Venter, JC},
Title = {Genetics. FDA races in wrong direction.},
Journal = {Science},
Volume = {301},
Number = {5632},
Pages = {466},
Year = {2003},
Month = {July},
url = {http://dx.doi.org/10.1126/science.1087004},
Abstract = {Despite recent genetic evidence and the promise of
individualized medicine, there is a continuing interest in
using self-identified categories of race and ethnicity as
variables in scientific and medical research. The U.S. Food
and Drug Administration recently proposed a standardized
approach for the collection of race and ethnicity data in
clinical trials. We believe that this move fails to
acknowledge new scientific data and recommend that relevant
data from individuals be collected and used rather than
broad group statistics. We also encourage that increased
funding be committed to this important issue.},
Doi = {10.1126/science.1087004},
Key = {fds301334}
}
@article{fds301333,
Author = {Haga, SB and Boughman, JA},
Title = {The genetics workforce and workload.},
Journal = {Genet Med},
Volume = {5},
Number = {1},
Pages = {55-57},
Year = {2003},
url = {http://dx.doi.org/10.1097/00125817-200301000-00009},
Doi = {10.1097/00125817-200301000-00009},
Key = {fds301333}
}
@article{fds301332,
Author = {Chase, MB and Fu, S and Haga, SB and Davenport, G and Stevenson, H and Do,
K and Morgan, D and Mah, AL and Berg, PE},
Title = {BP1, a homeodomain-containing isoform of DLX4, represses the
beta-globin gene.},
Journal = {Mol Cell Biol},
Volume = {22},
Number = {8},
Pages = {2505-2514},
Year = {2002},
Month = {April},
url = {http://dx.doi.org/10.1128/MCB.22.8.2505-2514.2002},
Abstract = {In earlier studies we identified a putative repressor of the
human beta-globin gene, termed beta protein 1 (BP1), which
binds to two silencer DNA sequences upstream of the adult
human beta-globin gene and to a negative control region
upstream of the adult delta-globin gene. Further studies
demonstrated an inverse correlation between the binding
affinity of the BP1 protein for the distal beta-globin
silencer sequence and the severity of sickle cell anemia,
suggesting a possible role for BP1 in determining the
production of hemoglobin S. We have now cloned a cDNA
expressing the BP1 protein. Sequencing revealed that BP1 is
a member of the homeobox gene family and belongs to the
subfamily called Distal-less (DLX), genes important in early
development. Further analysis showed that BP1 is an isoform
of DLX4. BP1 protein has repressor function towards the
beta-globin promoter, acting through the two beta-globin DNA
silencers, demonstrated in transient transfection assays.
Strong BP1 expression is restricted to placenta and kidney
tissue, with no expression in 48 other human tissues. BP1
exhibits regulated expression in the human erythroid cell
line MB-02, where its expression decreases upon induction of
the beta-globin gene. BP1 is thus the first member of the
DLX family with known DNA binding sites and a function in
globin gene regulation.},
Doi = {10.1128/MCB.22.8.2505-2514.2002},
Key = {fds301332}
}
@article{fds301330,
Author = {Fu, S and Stevenson, H and Strovel, JW and Haga, SB and Stamberg, J and Do,
K and Berg, PE},
Title = {Distinct functions of two isoforms of a homeobox gene, BP1
and DLX7, in the regulation of the beta-globin
gene.},
Journal = {Gene},
Volume = {278},
Number = {1-2},
Pages = {131-139},
Year = {2001},
Month = {October},
ISSN = {0378-1119},
url = {http://dx.doi.org/10.1016/s0378-1119(01)00716-8},
Abstract = {Homeotic proteins are transcription factors that regulate
the expression of multiple genes involved in development and
differentiation. We previously isolated a cDNA encoding such
a protein from the human leukemia cell line K562, termed
Beta Protein 1 (BP1), which is involved in negative
regulation of the human beta-globin gene. Sequence
comparison revealed that BP1 is a member of the distal-less
(DLX) family of homeobox genes and that it shares its
homeodomain and 3' sequences with another DLX cDNA, DLX7.
BP1 and DLX7 exhibit unique 5' regions, diverging at
nucleotide 565 of BP1. We mapped this new distal-less family
member BP1 to chromosome 17q21-22 by FISH and PCR, which is
the same locus to which DLX7 has been mapped. These results
strongly suggest that BP1 and DLX7 are isoforms (derived
from the same gene). Since our previous data demonstrated
that BP1 and DLX7 are frequently co-expressed, we determined
whether DLX7 is also involved in the negative regulation of
the beta-globin gene. Mobility shift assays demonstrated
that both BP1 and DLX7 proteins, synthesized in vitro, bind
to the same BP1 binding site. However, using transient
assays, we showed that although BP1 represses activity of a
reporter gene through either of two silencer DNA sequences
upstream of the beta-globin gene, DLX7 did not show
repressor activity against the beta-globin promoter. Further
characterization of these apparent isoforms is of
significance since they are jointly expressed in acute
myeloid leukemia and in many leukemia cell
lines.},
Doi = {10.1016/s0378-1119(01)00716-8},
Key = {fds301330}
}
@article{fds301331,
Author = {Haga, SB and Fu, S and Karp, JE and Ross, DD and Williams, DM and Hankins,
WD and Behm, F and Ruscetti, FW and Chang, M and Smith, BD and Becton, D and Raimondi, SC and Berg, PE},
Title = {BP1, a new homeobox gene, is frequently expressed in acute
leukemias.},
Journal = {Leukemia},
Volume = {14},
Number = {11},
Pages = {1867-1875},
Year = {2000},
Month = {November},
ISSN = {0887-6924},
url = {http://dx.doi.org/10.1038/sj.leu.2401912},
Abstract = {Aberrant expression of homeobox genes has been described in
primary leukemia blasts. We recently cloned a new cDNA, BP1,
which is a member of the homeobox gene family. BP1
expression was investigated in bone marrow samples from
acute myeloid leukemia (AML), acute T cell lymphocytic
leukemia (ALL) and pre-B cell ALL. Expression levels of two
apparent isoforms of BP1, DLX7 and DLX4, were measured in
the same samples. They are weakly if at all detectable in
normal bone marrow, PHA-stimulated T cells or B cells. BP1
RNA was highly expressed in 63% of AML cases, including 81%
of the pediatric and 47% of the adult cases, and in 32% of
T-ALL cases, but was not found in any of the pre-B ALL
cases. Coexpression of BP1, DLX7 and DLX4 occurred in a
significant number of leukemias. Our data, including
co-expression of BP1 with c-myb and GATA-1, markers of early
progenitors, suggest that BP1 expression occurs in primitive
cells in AML. Analysis of CD34+ and CD34- normal bone marrow
cells revealed BP1 is expressed in CD34- cells and virtually
extinguished in CD34+ cells. Ectopic expression of BP1 in
the leukemia cell line K562 increased clonogenicity,
consistent with a role for BP1 in leukemogenesis. The
presence of BP1 RNA in leukemic blasts may therefore be a
molecular marker for primitive cells and/or may indicate
that BP1 is an important upstream factor in an oncogenic
pathway.},
Doi = {10.1038/sj.leu.2401912},
Key = {fds301331}
}
@article{fds301329,
Author = {Chase, MB and Haga, SB and Hankins, WD and Williams, DM and Bi, Z and Strovel, JW and Obriecht, C and Berg, PE},
Title = {Binding of HMG-I(Y) elicits structural changes in a silencer
of the human beta-globin gene.},
Journal = {Am J Hematol},
Volume = {60},
Number = {1},
Pages = {27-35},
Publisher = {WILEY},
Year = {1999},
Month = {January},
ISSN = {0361-8609},
url = {http://dx.doi.org/10.1002/(sici)1096-8652(199901)60:1<27::aid-ajh6>3.0.co;2-0},
Abstract = {Proteins involved in repression of the human beta-globin
gene may be useful in the treatment of sickle cell anemia,
in conjunction with therapy to reactivate fetal globin
genes. If there is a reciprocal elevation of gamma-globin
expression upon repression, this approach could be useful in
additional hemoglobinopathies. We previously showed that
repression of the beta-globin gene appears to be mediated
through two DNA sequences, silencers I and II, and
identified a protein termed BP1 which binds to both silencer
sequences. In this study, we cloned two cDNAs encoding
proteins which bind to an oligonucleotide in silencer I
containing a BP1 binding site. These cDNAs correspond to
HMG-I and HMG-Y, isoforms regarded as architectural
proteins. We demonstrate that binding of HMG-I(Y) to this
oligonucleotide causes bending/flexure of the DNA. HMG-I(Y)
also binds to a second oligonucleotide containing a BP1
binding site located in a negative control region upstream
of the delta-globin gene, suggesting a role for HMG-I(Y) in
repression of adult globin genes. Expression studies
revealed that HMG-I(Y) is ubiquitously expressed in human
tissues that do not express beta-globin, being present in 48
of 50 tissues and six hematopoietic cell lines examined.
Furthermore, HMG-I(Y) expression is down-regulated during
differentiation of primary erythroid cells. We present a
model in which HMG-I(Y) alters DNA conformation to allow
binding of repressor proteins, and in which the relative
amount of HMG-I(Y) helps to determine the repressive state
of the beta-globin gene.},
Doi = {10.1002/(sici)1096-8652(199901)60:1<27::aid-ajh6>3.0.co;2-0},
Key = {fds301329}
}
%% Chapters in Books
@misc{fds371133,
Author = {Haga, SB},
Title = {Precision medicine: Overview and challenges to clinical
implementation},
Pages = {513-529},
Booktitle = {Principles of Gender-Specific Medicine: Sex and
Gender-Specific Biology in the Postgenomic
Era},
Year = {2023},
Month = {January},
ISBN = {9780323885348},
url = {http://dx.doi.org/10.1016/B978-0-323-88534-8.00020-1},
Abstract = {Precision medicine pivots on the integration of patients’
individual data including genetic and genomic data, digital
health measures, and social health factors, for the
prevention, diagnosis, and treatment of disease. Initially
referred to as personalized medicine, the field (and its
name) have evolved to encompass a wide range of measures to
enable delivery of more precise healthcare. As the range and
scope of technologies have expanded, so too have the
challenges to analyze, develop evidence-based guidelines and
promote routine utilization of treatment. With respect to
genetics and genomics, precision medicine is moving from a
single test or type of data like a gene sequence to
large-scale assessments of molecular-based changes that are
impacted by and can impact the macro- and microenvironment,
including the those of both the host genome and that of the
microbiome. Several areas of research are actively under
investigation that have revealed sex-specific differences
and new clues about human health and disease. These areas of
research and ensuing clinical applications raise a host of
issues that will need to be addressed to enable the
successful and timely transition the clinic. This chapter
aims to provide an overview of genome sciences, examples of
clinical applications, and challenges related to clinical
implementation.},
Doi = {10.1016/B978-0-323-88534-8.00020-1},
Key = {fds371133}
}
@misc{fds348799,
Author = {Ginsburg, GS and Haga, SB},
Title = {Foundations and application of precision
medicine},
Pages = {21-45},
Booktitle = {Emery and Rimoin's Principles and Practice of Medical
Genetics and Genomics: Foundations},
Year = {2018},
Month = {January},
ISBN = {9780128126851},
url = {http://dx.doi.org/10.1016/B978-0-12-812537-3.00002-0},
Abstract = {The goal of precision medicine is to optimize disease
prevention, diagnosis, and treatment decision-making through
the assimilation and analysis of multiple types of data
including both genotypic (DNA variation) and phenotypic
measures (traditional clinical biomarkers, gene expression,
and metabolite profile). Successful integration of new data
and analytical methods will pivot on a robust and secure
clinical infrastructure, electronic medical records and
digital health technologies. Precision medicine may be
integrated into public health surveillance, preventive care,
and diagnosis. This chapter provides an overview and
examples to date that have contributed to the rise of
precision medicine and highlight areas where effort is
needed to realize the full potential of these
applications.},
Doi = {10.1016/B978-0-12-812537-3.00002-0},
Key = {fds348799}
}
@misc{fds333811,
Author = {Haga, SB},
Title = {Precision Medicine and Challenges in Research and Clinical
Implementation},
Pages = {717-732},
Booktitle = {Principles of Gender-Specific Medicine: Gender in the
Genomic Era: Third Edition},
Publisher = {Elsevier},
Year = {2017},
Month = {May},
ISBN = {9780128035061},
url = {http://dx.doi.org/10.1016/B978-0-12-803506-1.00021-8},
Abstract = {The personalized medicine movement pivots on the integration
of patients' genetic and genomic data for prevention,
diagnosis, and treatment. However, it does not refer to a
single test or type of data like a gene sequence, but rather
assessment of a range of molecular-based changes that are
impacted by and can impact the macro-and micro-environment.
At this point in time, several areas of research are
actively under investigation, yielding new clues about human
health and disease, and informing development of new
clinical interventions. These areas of research and clinical
applications also raise a host of issues that will need to
be addressed to enable the continued pace of research and
clinical implementation. This chapter aims to provide an
overview of several areas of research that are driving the
personalized medicine movement as well as some of the
ethical, legal, and clinical issues that have been
raised.},
Doi = {10.1016/B978-0-12-803506-1.00021-8},
Key = {fds333811}
}
@misc{fds339309,
Author = {Haga, SB},
Title = {Overview of Policy, Ethical, and Social Considerations in
Genomic and Personalized Medicine},
Pages = {19-43},
Booktitle = {Genomic and Precision Medicine: Primary Care: Third
Edition},
Publisher = {Elsevier},
Year = {2017},
Month = {March},
ISBN = {9780128006856},
url = {http://dx.doi.org/10.1016/B978-0-12-800685-6.00005-9},
Abstract = {Genomics has significantly advanced our understanding of
human populations and disease, enabling development of
improved predictive and diagnostic tools. The integration of
genomic medicine into routine clinical practice will require
careful consideration and potential revisions of current
policies pertaining to the conduct of genomics research and
practice of personalized medicine. In addition, enhanced
awareness and knowledge of the principles and practices of
genomic medicine will be needed among all stakeholders,
including healthcare practitioners, policymakers, patients,
and the general public.},
Doi = {10.1016/B978-0-12-800685-6.00005-9},
Key = {fds339309}
}
@misc{fds302566,
Author = {Haga, SB},
Title = {Overview of Policy, Ethical and Social Considerations in
Genomic and Personalized Medicine},
Volume = {1},
Pages = {392-404},
Booktitle = {Genomic and Personalized Medicine},
Year = {2013},
Month = {August},
ISBN = {9780123822277},
url = {http://dx.doi.org/10.1016/B978-0-12-382227-7.00034-3},
Doi = {10.1016/B978-0-12-382227-7.00034-3},
Key = {fds302566}
}
@misc{fds355091,
Author = {Cho, A and Vorderstrasse, A and Suchindran, S and Lucas, J and Scott,
WM and Bembe, M and Baker, D and Haga, SB and Orlando, L and Trujillo, GM and Joy, SV and Ginsburg, GS},
Title = {T2D Genetic Risk Counseling & Testing in Primary
Care},
Journal = {DIABETES},
Volume = {62},
Pages = {A196-A196},
Publisher = {AMER DIABETES ASSOC},
Year = {2013},
Month = {July},
Key = {fds355091}
}
@misc{fds367039,
Author = {Haga, SB},
Title = {Overview of Policy, Ethical and Social Considerations in
Genomic and Personalized Medicine},
Pages = {392-404},
Booktitle = {Genomic and Personalized Medicine},
Year = {2012},
Month = {November},
ISBN = {9780123822277},
url = {http://dx.doi.org/10.1016/B978-0-12-382227-7.00034-3},
Doi = {10.1016/B978-0-12-382227-7.00034-3},
Key = {fds367039}
}
@misc{fds302565,
Author = {Haga, SB},
Title = {Genome Policy Considerations for Genomic
Medicine},
Pages = {209-222},
Booktitle = {Essentials of Genomic and Personalized Medicine},
Publisher = {Elsevier},
Year = {2010},
Month = {December},
ISBN = {9780123749345},
url = {http://dx.doi.org/10.1016/B978-0-12-374934-5.00018-0},
Abstract = {This chapter provides an overview of the major policy issues
pertaining to research, development, and translation of
genomic medicine applications. The issues include research
allocation and prioritization, uses and analyses of race in
genome studies, ethical issues linked to large-scale genome
efforts, privacy and discrimination, and enhancing public
and professional awareness. The genetic etiology of common,
complex diseases and development of high-throughput
technologies at increasingly cheaper costs have enabled the
expansion of study populations in genomic studies. Whereas
genetic studies traditionally focused on small groups,
genomics studies are characterized by the collection of
genetic data on hundreds or thousands of individuals. The
demand for DNA samples from individuals of various
phenotypes has led to the creation of local and national
biobanks or biorepositories worldwide. Given the enormity of
national biobanks, several policy issues arise, particularly
with respect to research policy. The considerations include
scientific need and merit, cost and feasibility, required
infrastructure, accessibility to samples and data, informed
consent, intellectual property (IP), privacy and
confidentiality of data, and disclosure of research results
to participants. While current policies may be applicable to
some of these issues as they are not unique to biobanks, new
policies are required to address some of the considerations
such as data sharing and data disclosure. © 2010 Copyright
© 2010 Elsevier Inc. All rights reserved.},
Doi = {10.1016/B978-0-12-374934-5.00018-0},
Key = {fds302565}
}
@misc{fds302564,
Author = {Haga, SB},
Title = {From Sequence to Genomic Medicine: Genome Policy
Considerations},
Pages = {387-400},
Booktitle = {Genomic and Personalized Medicine, Two-Vol
Set},
Publisher = {Elsevier},
Year = {2009},
Month = {December},
ISBN = {9780123694201},
url = {http://dx.doi.org/10.1016/B978-0-12-369420-1.00033-0},
Doi = {10.1016/B978-0-12-369420-1.00033-0},
Key = {fds302564}
}
@misc{fds367040,
Author = {Haga, SB},
Title = {From Sequence to Genomic Medicine: Genome Policy
Considerations},
Pages = {388-400},
Booktitle = {GENOMIC AND PERSONALIZED MEDICINE, VOL 1},
Year = {2009},
Key = {fds367040}
}
@misc{fds367041,
Author = {Haga, SB},
Title = {From Sequence to Genomic Medicine: Genome Policy
Considerations},
Pages = {387-400},
Booktitle = {Genomic and Personalized Medicine: V1-2},
Year = {2008},
Month = {November},
ISBN = {9780123694201},
url = {http://dx.doi.org/10.1016/B978-0-12-369420-1.00033-0},
Doi = {10.1016/B978-0-12-369420-1.00033-0},
Key = {fds367041}
}