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

Research output: Contribution to journalReview articlepeer-review

14 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 languageEnglish (US)
Pages (from-to)511-520
Number of pages10
JournalThe Lancet
Volume394
Issue number10197
DOIs
StatePublished - Aug 10 2019

ASJC Scopus subject areas

  • Medicine(all)

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