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Title: The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.
Authors: Khoury MJ,  McBride CM,  Schully SD,  Ioannidis JP,  Feero WG,  Janssens AC,  Gwinn M,  Simons-Morton DG,  Bernhardt JM,  Cargill M,  Chanock SJ,  Church GM,  Coates RJ,  Collins FS,  Croyle RT,  Davis BR,  Downing GJ,  Duross A,  Friedman S,  Gail MH,  Ginsburg GS,  Green RC,  Greene MH,  Greenland P,  Gulcher JR,  Hsu A,  Hudson KL,  Kardia SL,  Kimmel PL,  Lauer MS,  Miller AM,  Offit K,  Ransohoff DF,  Roberts JS,  Rasooly RS,  Stefansson K,  Terry SF,  Teutsch SM,  Trepanier A,  Wanke KL,  Witte JS,  Xu J,  Centers for Disease Control and Prevention
Journal: Genet Med
Date: 2009 Aug
Branches: CGB, CGR, BB
PubMed ID: 19617843
PMC ID: PMC2936269
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.