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

Journal Article (Journal Article;Review)

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.

Full Text

Duke Authors

Cited Authors

  • Manolio, TA; Rowley, R; Williams, MS; Roden, D; Ginsburg, GS; Bult, C; Chisholm, RL; Deverka, PA; McLeod, HL; Mensah, GA; Relling, MV; Rodriguez, LL; Tamburro, C; Green, ED

Published Date

  • August 10, 2019

Published In

Volume / Issue

  • 394 / 10197

Start / End Page

  • 511 - 520

PubMed ID

  • 31395439

Pubmed Central ID

  • PMC6699751

Electronic International Standard Serial Number (EISSN)

  • 1474-547X

Digital Object Identifier (DOI)

  • 10.1016/S0140-6736(19)31140-7


  • eng

Conference Location

  • England