TY - JOUR
T1 - Opportunities, resources, and techniques for implementing genomics in clinical care
AU - Manolio, Teri A.
AU - Rowley, Robb
AU - Williams, Marc S.
AU - Roden, Dan
AU - Ginsburg, Geoffrey S.
AU - Bult, C.
AU - Chisholm, R. L.
AU - Deverka, Patricia A.
AU - McLeod, Howard L.
AU - Mensah, George A.
AU - Relling, Mary V.
AU - Rodriguez, Laura Lyman
AU - Tamburro, Cecelia
AU - Green, Eric D.
N1 - Funding Information:
MSW reports grants from National Human Genome Research Institute and the National Institutes of Health during the conduct of the study. GSG has stock options in the following companies: Fabric Genomics, Origin Commercial Advisors, Predigen, Exploragen, and Dr Footprint. He receives science advisory board fees from Pappas Ventures and Konica Minolta. HLM reports other fees from Cancer Genetics and Pharmazam, during the conduct of the study, and other fees from Interpares Biomedicine, outside the submitted work. All other authors declare no competing interests.
Publisher Copyright:
© 2019 Elsevier Ltd
PY - 2019/8/10
Y1 - 2019/8/10
N2 - Advances in technologies for assessing genomic variation and an increasing understanding of the effects of genomic variants on health and disease are driving the transition of genomics from the research laboratory into clinical care. Genomic medicine, or the use of an individual's genomic information as part of their clinical care, is increasingly gaining acceptance in routine practice, including in assessing disease risk in individuals and their families, diagnosing rare and undiagnosed diseases, and improving drug safety and efficacy. We describe the major types and measurement tools of genomic variation that are currently of clinical importance, review approaches to interpreting genomic sequence variants, identify publicly available tools and resources for genomic test interpretation, and discuss several key barriers in using genomic information in routine clinical practice.
AB - Advances in technologies for assessing genomic variation and an increasing understanding of the effects of genomic variants on health and disease are driving the transition of genomics from the research laboratory into clinical care. Genomic medicine, or the use of an individual's genomic information as part of their clinical care, is increasingly gaining acceptance in routine practice, including in assessing disease risk in individuals and their families, diagnosing rare and undiagnosed diseases, and improving drug safety and efficacy. We describe the major types and measurement tools of genomic variation that are currently of clinical importance, review approaches to interpreting genomic sequence variants, identify publicly available tools and resources for genomic test interpretation, and discuss several key barriers in using genomic information in routine clinical practice.
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U2 - 10.1016/S0140-6736(19)31140-7
DO - 10.1016/S0140-6736(19)31140-7
M3 - Review article
C2 - 31395439
AN - SCOPUS:85070201297
VL - 394
SP - 511
EP - 520
JO - The Lancet
JF - The Lancet
SN - 0140-6736
IS - 10197
ER -