The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health–Centers for Disease Control and Prevention Multidisciplinary Workshop

Muin J. Khoury, MD, PhD, Colleen M. McBride, PhD, [...], and Jianfeng Xu, MD, DrPH

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Abstract

The increasing availability of personal genomic tests has led to discussions about the validity and utility of such tests and the balance of benefits and harms. A multidisciplinary workshop was convened by the National Institutes of Health and the Centers for Disease Control and Prevention to review the scientific foundation for using personal genomics in risk assessment and disease prevention and to develop recommendations for targeted research. The clinical validity and utility of personal genomics is a moving target with rapidly developing discoveries but little translation research to close the gap between discoveries and health impact. Workshop participants made recommendations in five domains: (1) developing and applying scientific standards for assessing personal genomic tests; (2) developing and applying a multidisciplinary research agenda, including observational studies and clinical trials to fill knowledge gaps in clinical validity and utility; (3) enhancing credible knowledge synthesis and information dissemination to clinicians and consumers; (4) linking scientific findings to evidence-based recommendations for use of personal genomics; and (5) assessing how the concept of personal utility can affect health benefits, costs, and risks by developing appropriate metrics for evaluation. To fulfill the promise of personal genomics, a rigorous multidisciplinary research agenda is needed.

Keywords: behavioral sciences, epidemiologic methods, evidence-based medicine, genetics, genetic testing, genomics, medicine, public health

The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health–Centers for Disease Control and Prevention Multidisciplinary Workshop

Muin J Khoury^1,2, Colleen M McBride³, Sheri D Schully², John P A Ioannidis⁴, W Gregory Feero³, A Cecile J W Janssens⁵, Marta Gwinn¹, Denise G Simons-Morton⁶, Jay M Bernhardt⁷, Michele Cargill⁸, Stephen J Chanock², George M Church⁹, Ralph J Coates¹, Francis S Collins³, Robert T Croyle², Barry R Davis¹⁰, Gregory J Downing¹¹, Amy DuRoss⁸, Susan Friedman¹², Mitchell H Gail², Geoffrey S Ginsburg¹³, Robert C Green¹⁴, Mark H Greene², Philip Greenland¹⁵, Jeffrey R Gulcher¹⁶, Andro Hsu¹⁷, Kathy L Hudson¹⁸, Sharon L R Kardia¹⁹, Paul L Kimmel²⁰, Michael S Lauer⁶, Amy M Miller²¹, Kenneth Offit²², David F Ransohoff²³, J Scott Roberts²⁴, Rebekah S Rasooly²⁰, Kari Stefansson¹⁶, Sharon F Terry²⁵, Steven M Teutsch²⁶, Angela Trepanier²⁷, Kay L Wanke²⁸, John S Witte²⁹ and Jianfeng Xu³⁰

¹From the ¹Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia
²National Cancer Institute, National Institutes of Health, Bethesda, Maryland
³National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
⁴Department of Epidemiology, University of Ioannina School of Medicine, Ioannina, Greece; Tufts University, School of Medicine, Boston, Massachusetts
⁵Department of Epidemiology and Biostatistics, Erasmus University Medical Center, Rotterdam, The Netherlands
⁶National Heart, Lung, Blood Institute, National Institutes of Health, Bethesda, Maryland
⁷National Center for Health Marketing, Centers for Disease Control and Prevention, Atlanta, Georgia
⁸Navigenics, Redwood Shores, California
⁹Department of Genetics, Harvard Medical School, Boston, Massachusetts
¹⁰Department of Biostatistics, The University of Texas School of Public Health, Houston, Texas
¹¹Personalized Health Care Initiative, United States Department of Health and Human Services, Washington, DC
¹²Facing Our Risk of Cancer Empowered (FORCE), Tampa, Florida
¹³Institute for Genome Sciences and Policy, Center for Genomic Medicine, Duke University, Durham, North Carolina
¹⁴Departments of Neurology, Medicine (Genetics) and Epidemiology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts
¹⁵Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois
¹⁶deCODE Genetics, Reykjavik, Iceland
¹⁷23 and Me, Inc. Mountain View, California
¹⁸Genetics and Public Policy Center, Johns Hopkins University, Washington, DC
¹⁹Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan
²⁰National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland
²¹Personalized Medicine Coalition, Washington, DC
²²Clinical Genetics Service, Memorial Sloan—Kettering Cancer Center, New York, New York
²³Departments of Medicine, Epidemiology, and Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
²⁴Department of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, Michigan
²⁵Genetic Alliance, Washington, DC
²⁶Los Angeles County Department of Public Health, Los Angeles, California
²⁷Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan
²⁸Office of Behavioral and Social Sciences Research, National Institutes of Health, Bethesda, Maryland
²⁹Department of Epidemiology and Biostatistics, Institute of Human Genetics, University of California, San Francisco, California
³⁰Center for Cancer Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina.

Correspondence: Muin J. Khoury, MD, PhD, Office of Public Health Genomics, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E61, Atlanta, GA 30333. E-mail: mkhoury@cdc.gov.

Received 26 March 2009; Accepted 26 March 2009; Published online 16 June 2010.

Disclosure: Several authors have varying conflicts of interest because of employment and other affiliations. See complete list in the Acknowledgments section.

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