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The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.

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.

SUBMITTER: Khoury MJ

PROVIDER: S-EPMC2936269 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature

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The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.

Khoury Muin J MJ McBride Colleen M CM Schully Sheri D SD Ioannidis John P A JP Feero W Gregory WG Janssens A Cecile J W AC Gwinn Marta M Simons-Morton Denise G DG Bernhardt Jay M JM Cargill Michele M Chanock Stephen J SJ Church George M GM Coates Ralph J RJ Collins Francis S FS Croyle Robert T RT Davis Barry R BR Downing Gregory J GJ Duross Amy A Friedman Susan S Gail Mitchell H MH Ginsburg Geoffrey S GS Green Robert C RC Greene Mark H MH Greenland Philip P Gulcher Jeffrey R JR Hsu Andro A Hudson Kathy L KL Kardia Sharon L R SL Kimmel Paul L PL Lauer Michael S MS Miller Amy M AM Offit Kenneth K Ransohoff David F DF Roberts J Scott JS Rasooly Rebekah S RS Stefansson Kari K Terry Sharon F SF Teutsch Steven M SM Trepanier Angela A Wanke Kay L KL Witte John S JS Xu Jianfeng J

Genetics in medicine : official journal of the American College of Medical Genetics 20090801 8

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 gen ...[more]

PMID: 19617843

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Dataset Information

The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.

Publications

The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.

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