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

Saved in:
Bibliographic Details
Title: Opportunities, resources, and techniques for implementing genomics in clinical care.
Authors: Manolio, Teri A., Rowley, Robb, Williams, Marc S., Roden, Dan, Ginsburg, Geoffrey S., Bult, Carol, Chisholm, Rex L., Deverka, Patricia A., McLeod, Howard L., Mensah, George A., Relling, Mary V., Rodriguez, Laura Lyman, Tamburro, Cecelia, Green, Eric D.
Source: Lancet. 8/10/2019, Vol. 394 Issue 10197, p511-520. 10p.
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. [ABSTRACT FROM AUTHOR]
Copyright of Lancet is the property of Lancet and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
Description
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. [ABSTRACT FROM AUTHOR]
ISSN:01406736
DOI:10.1016/S0140-6736(19)31140-7