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

@article{citeulike:5219501, 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.}, author = {Khoury, Muin J. and McBride, Colleen M. and Schully, Sheri D. and Ioannidis, John P. and Feero, W. Gregory and Janssens, A. Cecile and Gwinn, Marta and Simons-Morton, Denise G. and Bernhardt, Jay M. and Cargill, Michele and Chanock, Stephen J. and Church, George M. and Coates, Ralph J. and Collins, Francis S. and Croyle, Robert T. and Davis, Barry R. and Downing, Gregory J. and Duross, Amy and Friedman, Susan and Gail, Mitchell H. and Ginsburg, Geoffrey S. and Green, Robert C. and Greene, Mark H. and Greenland, Philip and Gulcher, Jeffrey R. and Hsu, Andro and Hudson, Kathy L. and Kardia, Sharon L. and Kimmel, Paul L. and Lauer, Michael S. and Miller, Amy M. and Offit, Kenneth and Ransohoff, David F. and Roberts, J. Scott and Rasooly, Rebekah S. and Stefansson, Kari and Terry, Sharon F. and Teutsch, Steven M. and Trepanier, Angela and Wanke, Kay L. and Witte, John S. and Xu, Jianfeng}, citeulike-article-id = {5219501}, citeulike-linkout-0 = {http://dx.doi.org/10.1097/GIM.0b013e3181b13a6c}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/19617843}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=19617843}, day = {16}, doi = {10.1097/GIM.0b013e3181b13a6c}, issn = {1530-0366}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, keywords = {cdc, genomics, nih, personalized-medicine}, month = {August}, number = {8}, pages = {559--567}, posted-at = {2009-09-08 14:50:10}, priority = {2}, title = {The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.}, url = {http://dx.doi.org/10.1097/GIM.0b013e3181b13a6c}, volume = {11}, year = {2009} }

TY - JOUR ID - citeulike:5219501 L3 - citeulike-article-id:5219501 N2 - 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. IS - 8 JF - Genetics in medicine : official journal of the American College of Medical Genetics SN - 1530-0366 EP - 567 TI - The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. VL - 11 SP - 559 KW - cdc KW - genomics KW - nih KW - personalized-medicine AU - Khoury, Muin AU - McBride, Colleen AU - Schully, Sheri AU - Ioannidis, John AU - Feero, Gregory AU - Janssens, Cecile AU - Gwinn, Marta AU - Simons-Morton, Denise AU - Bernhardt, Jay AU - Cargill, Michele AU - Chanock, Stephen AU - Church, George AU - Coates, Ralph AU - Collins, Francis AU - Croyle, Robert AU - Davis, Barry AU - Downing, Gregory AU - Duross, Amy AU - Friedman, Susan AU - Gail, Mitchell AU - Ginsburg, Geoffrey AU - Green, Robert AU - Greene, Mark AU - Greenland, Philip AU - Gulcher, Jeffrey AU - Hsu, Andro AU - Hudson, Kathy AU - Kardia, Sharon AU - Kimmel, Paul AU - Lauer, Michael AU - Miller, Amy AU - Offit, Kenneth AU - Ransohoff, David AU - Roberts, Scott AU - Rasooly, Rebekah AU - Stefansson, Kari AU - Terry, Sharon AU - Teutsch, Steven AU - Trepanier, Angela AU - Wanke, Kay AU - Witte, John AU - Xu, Jianfeng PY - 2009/08/16/ UR - http://dx.doi.org/10.1097/GIM.0b013e3181b13a6c ER -