Perspectives on Genetic and Genomic Technologies in an Academic Medical Center: The Duke Experience

In this age of personalized medicine, genetic and genomic testing is expected to become instrumental in health care delivery, but little is known about its actual implementation in clinical practice. Methods. We surveyed Duke faculty and healthcare providers to examine the extent of genetic and genomic testing adoption. We assessed providers’ use of genetic and genomic testing options and indications in clinical practice, providers’ awareness of pharmacogenetic applications, and providers’ opinions on returning research-generated genetic test results to participants. Most clinician respondents currently use family history routinely in their clinical practice, but only 18 percent of clinicians use pharmacogenetics. Only two respondents correctly identified the number of drug package inserts with pharmacogenetic indications. We also found strong support for the return of genetic research results to participants. Our results demonstrate that while Duke healthcare providers are enthusiastic about genomic technologies, use of genomic tools outside of research has been limited. Respondents favor return of research-based genetic results to participants, but clinicians lack knowledge about pharmacogenetic applications. We identified challenges faced by this institution when implementing genetic and genomic testing into patient care that should inform a policy and education agenda to improve provider support and clinician-researcher partnerships.

[1]  Ralph Snyderman,et al.  Personalized health care: From theory to practice , 2012, Biotechnology journal.

[2]  W Burke,et al.  Primary care physicians' knowledge of and experience with pharmacogenetic testing , 2012, Clinical genetics.

[3]  George Hripcsak,et al.  Opportunities for genomic clinical decision support interventions , 2013, Genetics in Medicine.

[4]  Hugo Y. K. Lam,et al.  Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes , 2012, Cell.

[5]  L. Simmons,et al.  Personalized Health Planning With Integrative Health Coaching to Reduce Obesity Risk Among Women Gaining Excess Weight During Pregnancy , 2013, Global advances in health and medicine.

[6]  Megan Allyse,et al.  Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. , 2013, Trends in biotechnology.

[7]  R. Haubrich,et al.  Pharmacogenomics of HIV Therapy: Summary of a Workshop Sponsored by the National Institute of Allergy and Infectious Diseases , 2011, HIV clinical trials.

[8]  B. Knoppers,et al.  Recommendations for returning genomic incidental findings? We need to talk! , 2013, Genetics in Medicine.

[9]  Abel N. Kho,et al.  Practical challenges in integrating genomic data into the electronic health record , 2013, Genetics in Medicine.

[10]  G. Ginsburg,et al.  Use of a Patient-Entered Family Health History Tool with Decision Support in Primary Care: Impact of Identification of Increased Risk Patients on Genetic Counseling Attendance , 2015, Journal of Genetic Counseling.

[11]  Xiaodong Feng,et al.  Therapeutic Application of Pharmacogenomics in Oncology , 2016, The AAPS Journal.

[12]  Lisa S. Parker,et al.  Managing Incidental Genomic Findings in Clinical Trials: Fulfillment of the Principle of Justice , 2014, PLoS medicine.

[13]  L. Biesecker,et al.  Preferences for results delivery from Exome Sequencing/Genome Sequencing , 2013, Genetics in Medicine.

[14]  Hunter Gehlbach,et al.  Using the Theory of Satisficing to Evaluate the Quality of Survey Data , 2011, Research in Higher Education.

[15]  C. Chute,et al.  Electronic Medical Records for Genetic Research: Results of the eMERGE Consortium , 2011, Science Translational Medicine.

[16]  S. Haga Delivering pharmacogenetic testing to the masses: an achievable goal? , 2014, Pharmacogenomics.

[17]  Joan Scott,et al.  Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study , 2012, Genetics in Medicine.

[18]  Jeffrey C. Hall,et al.  The CLIPMERGE PGx Program: Clinical Implementation of Personalized Medicine Through Electronic Health Records and Genomics–Pharmacogenomics , 2013, Clinical pharmacology and therapeutics.

[19]  J. Stoler,et al.  An assessment of clinician and researcher needs for support in the era of genomic medicine. , 2014, Personalized medicine.

[20]  S. Scott,et al.  Clinical Pharmacogenomics: Opportunities and Challenges at Point of Care , 2013, Clinical pharmacology and therapeutics.

[21]  Robert C. Green,et al.  Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium , 2013, Genetics in Medicine.

[22]  L. Simmons,et al.  Patient engagement as a risk factor in personalized health care: a systematic review of the literature on chronic disease , 2014, Genome Medicine.

[23]  Susan M Wolf,et al.  Return of individual research results and incidental findings: facing the challenges of translational science. , 2013, Annual review of genomics and human genetics.

[24]  M. Simoons,et al.  Controversies in cardiovascular medicine A systematic review on pharmacogenetics in cardiovascular disease : is it ready for clinical application ? , 2011 .

[25]  Susanne B Haga,et al.  Clinical delivery of pharmacogenetic testing services: a proposed partnership between genetic counselors and pharmacists. , 2013, Pharmacogenomics.

[26]  Kensaku Kawamoto,et al.  Bmc Medical Informatics and Decision Making a National Clinical Decision Support Infrastructure to Enable the Widespread and Consistent Practice of Genomic and Personalized Medicine , 2009 .

[27]  D. Rosenblatt Who's on first in exome and whole genome sequencing? Is it the patient or the incidental findings? , 2013, Molecular genetics and metabolism.

[28]  G. Patrinos,et al.  Assessment of the Pharmacogenomics Educational Environment in Southeast Europe , 2014, Public Health Genomics.

[29]  G. Ginsburg,et al.  Personalized medicine: revolutionizing drug discovery and patient care. , 2001, Trends in biotechnology.

[30]  M. Angrist,et al.  Living laboratory: whole‐genome sequencing as a learning healthcare enterprise , 2015, Clinical genetics.

[31]  Suzette J. Bielinski,et al.  Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems , 2014, Clinical pharmacology and therapeutics.

[32]  L. Dressler Integrating personalized genomic medicine into routine clinical care: addressing the social and policy issues of pharmacogenomic testing. , 2013, North Carolina medical journal.

[33]  B. Knoppers,et al.  Can I be sued for that? Liability risk and the disclosure of clinically significant genetic research findings , 2014, Genome research.

[34]  Jeanette J McCarthy,et al.  Genomic Medicine: A Decade of Successes, Challenges, and Opportunities , 2013, Science Translational Medicine.

[35]  klaguia The Emergence of an Ethical Duty to Disclose Genetic Research Results , 2006 .

[36]  A. Sturm,et al.  Implementation of a clinical research pharmacogenomics program at an academic medical center: role of the genetics healthcare professional. , 2013, Pharmacogenomics.

[37]  Keyan Salari,et al.  The Dawning Era of Personalized Medicine Exposes a Gap in Medical Education , 2009, PLoS medicine.

[38]  M R Wilkinson,et al.  A Clinician‐Driven Automated System for Integration of Pharmacogenetic Interpretations Into an Electronic Medical Record , 2012, Clinical pharmacology and therapeutics.

[39]  Kensaku Kawamoto,et al.  Characterizing genetic variants for clinical action , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

[40]  Rena A. Godfrey,et al.  The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience , 2014, Genetics in Medicine.

[41]  J. Bridges,et al.  Public preferences for the return of research results in genetic research: A conjoint analysis , 2014, Genetics in Medicine.

[42]  P. Sorensen,et al.  Attitudes of parents toward the return of targeted and incidental genomic research findings in children , 2014, Genetics in Medicine.

[43]  C. Pui,et al.  Pharmacogenomics and Individualized Medicine: Translating Science Into Practice , 2012, Clinical pharmacology and therapeutics.

[44]  B. Knoppers,et al.  The emergence of an ethical duty to disclose genetic research results: international perspectives , 2006, European Journal of Human Genetics.

[45]  Seema M Jamal,et al.  Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. , 2014, American journal of human genetics.

[46]  Rowena J Dolor,et al.  The MURDOCK Study: a long-term initiative for disease reclassification through advanced biomarker discovery and integration with electronic health records. , 2012, American journal of translational research.

[47]  Dan M. Roden,et al.  Implementing genomic medicine in the clinic: the future is here , 2013, Genetics in Medicine.

[48]  W. Kraus,et al.  Health Coaching and Genomics—Potential Avenues to Elicit Behavior Change in Those at Risk for Chronic Disease: Protocol for Personalized Medicine Effectiveness Study in Air Force Primary Care , 2013, Global advances in health and medicine.

[49]  Seema M Jamal,et al.  Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. , 2014, American journal of human genetics.

[50]  Table of Pharmacogenomic Biomarkers in Drug Labeling , 2015 .

[51]  Marc S. Williams,et al.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.

[52]  Gaurav Dave,et al.  Primary Care Physicians’ Awareness, Experience and Opinions of Direct-to-Consumer Genetic Testing , 2012, Journal of Genetic Counseling.

[53]  G. Ginsburg Realizing the opportunities of genomics in health care. , 2013, JAMA.

[54]  Heidi L Rehm,et al.  Return of genomic results to research participants: the floor, the ceiling, and the choices in between. , 2014, American journal of human genetics.