Scholars@Duke
Susanne B Haga

Susanne B Haga

Professor in Medicine
Medicine, General Internal Medicine
susanne.haga@duke.edu
101 Science Drive - CIEMAS Bldg, Box 3382, Durham, NC 27708
101 Science Drive, Box 3382 CIEMAS Suite 2180, Durham, NC 27708

Selected Publications

Artificial intelligence, medications, pharmacogenomics, and ethics.

Journal Article Pharmacogenomics · November 15, 2024 Artificial Intelligence (AI) and Machine Learning (ML) are revolutionizing various scientific and clinical disciplines including pharmacogenomics (PGx) by enabling the analysis of complex datasets and the development of predictive models. The integration o ... Full text Link to item Cite

Characterization of Research Support of Genome Editing Technologies and Transition to Clinical Trials.

Journal Article CRISPR J · October 2024 Genome editing technologies have become widely used research tools. To assess the rate of growth with respect to federal funding of gene editing projects, we analyzed publicly available data retrieved from the NIH RePORTER and Clinicaltrials.gov databases. ... Full text Link to item Cite

Pharmacogenetic testing in primary care could bolster depression treatment: A value proposition.

Journal Article Clin Transl Sci · June 2024 Pharmacogenetic testing could reduce the time to identify a safe and effective medication for depression; however, it is underutilized in practice. Major depression constitutes the most common mental disorder in the US, and while antidepressant therapy can ... Full text Link to item Cite

Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices.

Journal Article Front Pharmacol · 2024 Introduction: The practice of informed consent (IC) for pharmacogenomic testing in clinical settings varies, and there is currently no consensus on which elements of IC to provide to patients. This study aims to assess current IC practices for pharmacogeno ... Full text Link to item Cite

The Critical Role of Pharmacists in the Clinical Delivery of Pharmacogenetics in the U.S.

Journal Article Pharmacy (Basel) · September 10, 2023 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 ... Full text Link to item Cite

Expanding Family Health History to Include Family Medication History.

Journal Article J Pers Med · February 25, 2023 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 h ... Full text Link to item Cite

Development of Competency-based Online Genomic Medicine Training (COGENT).

Journal Article Per Med · January 2023 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 res ... Full text Link to item Cite

Precision medicine: Overview and challenges to clinical implementation

Chapter · January 1, 2023 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 ... Full text Cite

Conference Report: NHGRI Research Training and Career Development Annual Meeting.

Journal Article Per Med · October 18, 2022 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 postd ... Full text Link to item Cite

A Mixed-Methods Protocol to Identify Best Practices for Implementing Pharmacogenetic Testing in Clinical Settings.

Journal Article J Pers Med · August 13, 2022 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 utiliz ... Full text Link to item Cite

The book of genes and genomes

Book · January 21, 2022 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 g ... Full text Cite

A Systematic Review of the Scope of Study of mHealth Interventions for Wellness and Related Challenges in Pediatric and Young Adult Populations.

Journal Article Adolesc Health Med Ther · 2022 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 literat ... Full text Link to item Cite

Evaluating Primary Care Providers' Readiness for Delivering Genetic and Genomic Services to Underserved Populations.

Journal Article Public Health Genomics · September 7, 2021 INTRODUCTION: 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 dispari ... Full text Link to item Cite

The Potential Benefit of Expedited Development and Approval Programs in Precision Medicine.

Journal Article J Pers Med · January 14, 2021 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 i ... Full text Link to item Cite

Delivery of Pharmacogenetic Testing with or without Medication Therapy Management in a Community Pharmacy Setting.

Journal Article Pharmgenomics Pers Med · 2021 OBJECTIVE: 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. METHODS: We ... Full text Link to item Cite

Independent Community Pharmacists' Experience in Offering Pharmacogenetic Testing.

Journal Article Pharmgenomics Pers Med · 2021 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 pr ... Full text Link to item Cite

Revisiting Secondary Information Related to Pharmacogenetic Testing.

Journal Article Front Genet · 2021 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 ... Full text Link to item Cite

Individualizing pharmacogenomic test results in the context of the microbiome.

Journal Article Per Med · November 2020 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 dru ... Full text Link to item Cite

Clinical Utilization of Pharmacogenetics in Psychiatry - Perspectives of Pharmacists, Genetic Counselors, Implementation Science, Clinicians, and Industry.

Journal Article Pharmacopsychiatry · July 2020 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 ... Full text Link to item Cite

Toward digital-based interventions for medication adherence and safety.

Journal Article Expert Opin Drug Saf · June 2020 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 h ... Full text Link to item Cite

The enduring importance of family health history in the era of genomic medicine and risk assessment.

Journal Article Per Med · May 1, 2020 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 ... Full text Open Access Link to item Cite

Promoting Wellness Through Mobile Health Technology in a College Student Population: Protocol Development and Pilot Study.

Journal Article JMIR Res Protoc · April 3, 2020 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. OBJE ... Full text Link to item Cite

Precision Medicine in Primary Care: Bespoke. Genetic and Genomic. And Maybe Not Ready

Journal Article Managed Care · December 1, 2019 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 an ... Cite

Managing Increased Accessibility to Pharmacogenomic Data.

Journal Article Clin Pharmacol Ther · November 2019 Full text Link to item Cite

Promoting Wellness Through Mobile Health Technology in a College Student Population: Protocol Development and Pilot Study (Preprint)

Journal Article · October 2, 2019 BACKGROUNDThe 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 technologi ... Full text Cite

A stepwise approach to implementing pharmacogenetic testing in the primary care setting.

Journal Article Pharmacogenomics · October 2019 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 pharm ... Full text Link to item Cite

First Responder to Genomic Information: A Guide for Primary Care Providers.

Journal Article Mol Diagn Ther · August 2019 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 ... Full text Link to item Cite

Access to Genetic Counselors in the Southern United States.

Journal Article J Pers Med · July 1, 2019 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 ... Full text Link to item Cite

Patient characteristics, experiences and perceived value of pharmacogenetic testing from a single testing laboratory.

Journal Article Pharmacogenomics · June 2019 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 ... Full text Link to item Cite

Pharmacogenomics courses in pharmacy school curricula.

Journal Article Pharmacogenomics · June 2019 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 h ... Full text Link to item Cite

Primary Care Physicians' Knowledge, Attitudes, and Experience with Personal Genetic Testing.

Journal Article J Pers Med · May 24, 2019 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' a ... Full text Link to item Cite

Effect of Sociodemographic Factors on Uptake of a Patient-Facing Information Technology Family Health History Risk Assessment Platform.

Journal Article Appl Clin Inform · March 2019 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 s ... Full text Link to item Cite

Pharmacogenomic Testing In Pediatrics: Navigating The Ethical, Social, And Legal Challenges.

Journal Article Pharmgenomics Pers Med · 2019 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 ... Full text Link to item Cite

Awareness of family health history in a predominantly young adult population.

Journal Article PLoS One · 2019 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, ther ... Full text Link to item Cite

Effects of Delivering SLCO1B1 Pharmacogenetic Information in Randomized Trial and Observational Settings.

Journal Article Circ Genom Precis Med · September 2018 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 15 ... Full text Link to item Cite

Horizon Scan Of Clinical Laboratories Offering Pharmacogenetic Testing.

Journal Article Health Aff (Millwood) · May 2018 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 la ... Full text Link to item Cite

Qualitative user evaluation of a revised pharmacogenetic educational toolkit.

Journal Article Pharmgenomics Pers Med · 2018 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 enh ... Full text Link to item Cite

Foundations and application of precision medicine

Chapter · January 1, 2018 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 clinica ... Full text Cite

Considering the Benefits and Risks of Research Participants' Access to Sequence Data.

Journal Article Genet Test Mol Biomarkers · December 2017 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 re ... Full text Link to item Cite

Introducing personalized health for the family: the experience of a single hospital system.

Journal Article Pharmacogenomics · November 2017 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, ... Full text Link to item Cite

Informational Quest.

Journal Article Circ Cardiovasc Genet · August 2017 Full text Link to item Cite

Development and Initial Assessment of a Patient Education Video about Pharmacogenetics.

Journal Article J Pers Med · May 25, 2017 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 fo ... Full text Link to item Cite

Precision Medicine and Challenges in Research and Clinical Implementation

Chapter · May 15, 2017 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 ... Full text Cite

Overview of Policy, Ethical, and Social Considerations in Genomic and Personalized Medicine

Chapter · March 23, 2017 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 ... Full text Cite

Primary care providers' use of pharmacist support for delivery of pharmacogenetic testing.

Journal Article Pharmacogenomics · March 2017 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 ... Full text Link to item Cite

Assessing feasibility of delivering pharmacogenetic testing in a community pharmacy setting.

Journal Article Pharmacogenomics · March 2017 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 experi ... Full text Link to item Cite

Integrating pharmacogenetic testing into primary care.

Journal Article Expert Rev Precis Med Drug Dev · 2017 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 ... Full text Link to item Cite

Patient experiences with pharmacogenetic testing in a primary care setting.

Journal Article Pharmacogenomics · October 2016 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 experien ... Full text Link to item Cite

Challenges of development and implementation of point of care pharmacogenetic testing.

Journal Article Expert Rev Mol Diagn · September 2016 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 tec ... Full text Link to item Cite

A review of consent practices and perspectives for pharmacogenetic testing.

Journal Article Pharmacogenomics · September 2016 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 ... Full text Link to item Cite

Evaluation of a pharmacogenetic educational toolkit for community pharmacists.

Journal Article Pharmacogenomics · September 2016 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 p ... Full text Link to item Cite

Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.

Journal Article J Genet Couns · April 2016 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 ... Full text Link to item Cite

Incorporation of pharmacogenetic testing into medication therapy management.

Journal Article Pharmacogenomics · November 2015 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 ses ... Full text Link to item Cite

Interprofessional education for personalized medicine through technology-based learning.

Journal Article Per Med · June 2015 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 uncoordin ... Full text Link to item Cite

Challenges to integrating pharmacogenetic testing into medication therapy management.

Journal Article J Manag Care Spec Pharm · April 2015 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 v ... Full text Link to item Cite

Information-seeking and sharing behavior following genomic testing for diabetes risk.

Journal Article J Genet Couns · February 2015 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 a ... Full text Link to item Cite

Nurses' communication of pharmacogenetic test results as part of discharge care.

Journal Article Pharmacogenomics · 2015 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 result ... Full text Link to item Cite

Patient beliefs and behaviors about genomic risk for type 2 diabetes: implications for prevention.

Journal Article J Health Commun · 2015 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 typ ... Full text Open Access Link to item Cite

Community pharmacists' experience with pharmacogenetic testing.

Journal Article J Am Pharm Assoc (2003) · 2015 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 p ... Full text Link to item Cite

Pilot study: incorporation of pharmacogenetic testing in medication therapy management services.

Journal Article Pharmacogenomics · November 2014 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 pha ... Full text Link to item Cite

Striking a balance in communicating pharmacogenetic test results: promoting comprehension and minimizing adverse psychological and behavioral response.

Journal Article Patient Educ Couns · October 2014 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 r ... Full text Open Access Link to item Cite

Pilot study of pharmacist-assisted delivery of pharmacogenetic testing in a primary care setting.

Journal Article Pharmacogenomics · September 2014 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 an ... Full text Link to item Cite

Genomic counseling: next generation counseling.

Journal Article J Genet Couns · August 2014 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 counselo ... Full text Link to item Cite

Public trust in genomic risk assessment for type 2 diabetes mellitus.

Journal Article J Genet Couns · June 2014 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, pr ... Full text Link to item Cite

Genetically guided statin therapy on statin perceptions, adherence, and cholesterol lowering: a pilot implementation study in primary care patients.

Journal Article J Pers Med · March 27, 2014 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 ... Full text Link to item Cite

Comparison of delivery strategies for pharmacogenetic testing services.

Journal Article Pharmacogenet Genomics · March 2014 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 approache ... Full text Link to item Cite

Impact of delivery models on understanding genomic risk for type 2 diabetes.

Journal Article Public Health Genomics · 2014 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 addres ... Full text Link to item Cite

Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding.

Journal Article Genome Med · 2014 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 ... Full text Link to item Cite

Pharmacogenetic information for patients on drug labels.

Journal Article Pharmgenomics Pers Med · 2014 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 pat ... Full text Link to item Cite

The potential impact of pharmacogenetic testing on medication adherence.

Journal Article Pharmacogenomics J · December 2013 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 ... Full text Link to item Cite

Promoting public awareness and engagement in genome sciences.

Journal Article J Genet Couns · August 2013 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 ... Full text Link to item Cite

Managing incidental genomic findings: legal obligations of clinicians.

Journal Article Genet Med · August 2013 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 c ... Full text Link to item Cite

Pharmacogenetic testing: Current Evidence of Clinical Utility.

Journal Article Ther Adv Drug Saf · August 1, 2013 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 demon ... Full text Link to item Cite

Primary-care physicians' access to genetic specialists: an impediment to the routine use of genomic medicine?

Journal Article Genet Med · July 2013 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 genom ... Full text Link to item Cite

Clinical delivery of pharmacogenetic testing services: a proposed partnership between genetic counselors and pharmacists.

Journal Article Pharmacogenomics · June 2013 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 begu ... Full text Link to item Cite

Public knowledge of and attitudes toward genetics and genetic testing.

Journal Article Genet Test Mol Biomarkers · April 2013 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 mu ... Full text Link to item Cite

Primary care physicians' knowledge of and experience with pharmacogenetic testing

Journal Article Obstetrical and Gynecological Survey · February 1, 2013 Full text Cite

Stakeholder views on returning research results.

Journal Article Adv Genet · 2013 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 ... Full text Link to item Cite

Delivering pharmacogenetic testing in a primary care setting.

Journal Article Pharmgenomics Pers Med · 2013 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 variat ... Full text Link to item Cite

Insurance coverage policies for personalized medicine.

Journal Article J Pers Med · October 30, 2012 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 ... Full text Link to item Cite

Primary care physicians' knowledge of and experience with pharmacogenetic testing.

Journal Article Clin Genet · October 2012 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 tes ... Full text Link to item Cite

Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing.

Journal Article Clin Genet · August 2012 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, ... Full text Link to item Cite

Response to Newman et al

Journal Article Clinical Genetics · August 1, 2012 Full text Cite

Genetic testing: clinical and personal utility.

Journal Article Virtual Mentor · August 1, 2012 Full text Link to item Cite

Conference Scene: Is personalized medicine ready for prime time?

Journal Article Per Med · July 2012 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 ... Full text Link to item Cite

Survey of US public attitudes toward pharmacogenetic testing.

Journal Article Pharmacogenomics J · June 2012 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 serio ... Full text Link to item Cite

Public perspectives about pharmacogenetic testing and managing ancillary findings.

Journal Article Genet Test Mol Biomarkers · March 2012 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 incid ... Full text Link to item Cite

Enhancing geneticists' perspectives of the public through community engagement.

Journal Article Genet Med · February 2012 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 understandin ... Full text Link to item Cite

Effect of genetic testing for risk of type 2 diabetes mellitus on health behaviors and outcomes: study rationale, development and design.

Journal Article BMC Health Serv Res · January 18, 2012 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 ... Full text Open Access Link to item Cite

Characterization of clinical study populations by race and ethnicity in biomedical literature.

Journal Article Ethn Dis · 2012 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 d ... Link to item Cite

Professional perspectives about pharmacogenetic testing and managing ancillary findings.

Journal Article Genet Test Mol Biomarkers · January 2012 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 informat ... Full text Link to item Cite

Consideration of patient preferences and challenges in storage and access of pharmacogenetic test results.

Journal Article Genet Med · October 2011 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 outcom ... Full text Link to item Cite

Genomic risk profiling: attitudes and use in personal and clinical care of primary care physicians who offer risk profiling.

Journal Article J Gen Intern Med · August 2011 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 medi ... Full text Link to item Cite

Public attitudes toward ancillary information revealed by pharmacogenetic testing under limited information conditions.

Journal Article Genet Med · August 2011 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 dr ... Full text Link to item Cite

Practical ethics: establishing a pathway to benefit for complex pharmacogenomic tests.

Journal Article Clin Pharmacol Ther · July 2011 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 ... Full text Link to item Cite

Public perspectives on returning genetics and genomics research results.

Journal Article Public Health Genomics · 2011 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 ret ... Full text Link to item Cite

Public perspectives regarding data-sharing practices in genomics research.

Journal Article Public Health Genomics · 2011 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 part ... Full text Link to item Cite

Learning from product labels and label changes: how to build pharmacogenomics into drug-development programs.

Journal Article Pharmacogenomics · December 2010 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 summariz ... Full text Link to item Cite

Researcher practices on returning genetic research results.

Journal Article Genet Test Mol Biomarkers · December 2010 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 fe ... Full text Open Access Link to item Cite

Genome Policy Considerations for Genomic Medicine

Chapter · December 1, 2010 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, ethi ... Full text Cite

Analysis of educational materials and destruction/opt-out initiatives for storage and use of residual newborn screening samples.

Journal Article Genet Test Mol Biomarkers · October 2010 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 regar ... Full text Open Access Link to item Cite

Considerations for the impact of personal genome information: a study of genomic profiling among genetics and genomics professionals.

Journal Article J Genet Couns · August 2010 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 explorin ... Full text Link to item Cite

Impact of limited population diversity of genome-wide association studies.

Journal Article Genet Med · February 2010 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 existin ... Full text Link to item Cite

Factors influencing uptake of pharmacogenetic testing in a diverse patient population.

Journal Article Public Health Genomics · 2010 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 t ... Full text Link to item Cite

Ensuring the safe use of genomic medicine in children.

Journal Article Clin Pediatr (Phila) · September 2009 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. Child ... Full text Link to item Cite

Ethical issues of predictive genetic testing for diabetes.

Journal Article J Diabetes Sci Technol · July 1, 2009 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 ... Full text Link to item Cite

The potential of a placebo/nocebo effect in pharmacogenetics.

Journal Article Public Health Genomics · 2009 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 unders ... Full text Link to item Cite

Pharmacogenetic testing: not as simple as it seems.

Journal Article Genet Med · June 2008 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 c ... Full text Link to item Cite

Letting the genome out of the bottle.

Journal Article N Engl J Med · May 15, 2008 Full text Link to item Cite

Ethical, legal, and social implications of biobanks for genetics research.

Journal Article Adv Genet · 2008 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 ... Full text Link to item Cite

Determining user preferences between touch and pen data entry methods in the Tablet PC computing environment.

Journal Article AMIA Annu Symp Proc · October 11, 2007 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 te ... Link to item Cite

Defining the spectrum of genome policy.

Journal Article Nat Rev Genet · December 2006 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 ... Full text Link to item Cite

Adding pharmacogenetics information to drug labels: lessons learned.

Journal Article Pharmacogenet Genomics · December 2006 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 o ... Full text Link to item Cite

Genomics-based labeling and attribution: a case for integrating social sciences into personalized medicine research.

Journal Article Per Med · August 2006 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 under ... Full text Link to item Cite

Prescribing BiDil: is it black and white?

Journal Article J Am Coll Cardiol · July 4, 2006 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 ... Full text Link to item Cite

Translating genomic biomarkers into clinically useful diagnostics.

Journal Article Expert Rev Mol Diagn · March 2006 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 ... Full text Link to item Cite

Teaching resources for genetics.

Journal Article Nat Rev Genet · March 2006 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 resourc ... Full text Link to item Cite

Embracing our duty

Journal Article American Journal of Human Genetics · January 1, 2005 Full text Cite

Reconsidering the family history in primary care.

Journal Article J Gen Intern Med · March 2004 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 hi ... Full text Link to item Cite

Genetics. FDA races in wrong direction.

Journal Article Science · July 25, 2003 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 rece ... Full text Link to item Cite

BP1, a homeodomain-containing isoform of DLX4, represses the beta-globin gene.

Journal Article Mol Cell Biol · April 2002 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 ... Full text Link to item Cite

Distinct functions of two isoforms of a homeobox gene, BP1 and DLX7, in the regulation of the beta-globin gene.

Journal Article Gene · October 31, 2001 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 ... Full text Link to item Cite

BP1, a new homeobox gene, is frequently expressed in acute leukemias.

Journal Article Leukemia · November 2000 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) ... Full text Link to item Cite

Binding of HMG-I(Y) elicits structural changes in a silencer of the human beta-globin gene.

Journal Article Am J Hematol · January 1999 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, ... Full text Link to item Cite