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
Language
- eng
Conference Location
- England