Opportunities, resources, and techniques for implementing genomics in clinical care.
Document Type
Article
Publication Date
8-10-2019
Keywords
JMG
JAX Source
Lancet 2019 Aug 10; 394(10197):511-520
Volume
394
Issue
10197
First Page
511
Last Page
520
ISSN
1474-547X
PMID
31395439
DOI
https://doi.org/10.1016/S0140-6736(19)31140-7
Grant
CA034196
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.
Recommended Citation
Manolio T,
Rowley R,
Williams M,
Roden D,
Ginsburg G,
Bult C,
Chisholm R,
Deverka P,
McLeod H,
Mensah G,
Relling M,
Rodriguez L,
Tamburro C,
Green E.
Opportunities, resources, and techniques for implementing genomics in clinical care. Lancet 2019 Aug 10; 394(10197):511-520