Opportunities, resources, and techniques for implementing genomics in clinical care

Teri A. Manolio; Robb Rowley; Marc S. Williams; Dan Roden; Geoffrey S. Ginsburg; C. Bult; R. L. Chisholm; Patricia A. Deverka; Howard L. McLeod; George A. Mensah; Mary V. Relling; Laura Lyman Rodriguez; Cecelia Tamburro; Eric D. Green

doi:10.1016/S0140-6736(19)31140-7

Opportunities, resources, and techniques for implementing genomics in clinical care

Teri A. Manolio^*, Robb Rowley, Marc S. Williams, Dan Roden, Geoffrey S. Ginsburg, C. Bult, R. L. Chisholm, Patricia A. Deverka, Howard L. McLeod, George A. Mensah, Mary V. Relling, Laura Lyman Rodriguez, Cecelia Tamburro, Eric D. Green

^*Corresponding author for this work

FSM Office for Research

Research output: Contribution to journal › Review article › peer-review

54 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	511-520
Number of pages	10
Journal	The Lancet
Volume	394
Issue number	10197
DOIs	https://doi.org/10.1016/S0140-6736(19)31140-7
State	Published - Aug 10 2019

Funding

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.

ASJC Scopus subject areas

General Medicine

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Manolio, T. A., Rowley, R., Williams, M. S., Roden, D., Ginsburg, G. S., Bult, C., Chisholm, R. L., Deverka, P. A., McLeod, H. L., Mensah, G. A., Relling, M. V., Rodriguez, L. L., Tamburro, C., & Green, E. D. (2019). Opportunities, resources, and techniques for implementing genomics in clinical care. The Lancet, 394(10197), 511-520. https://doi.org/10.1016/S0140-6736(19)31140-7

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abstract = "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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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.

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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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Opportunities, resources, and techniques for implementing genomics in clinical care

Abstract

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