Clinical interpretation and implications of whole-genome sequencing.

ABSTRACT:

Importance

Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of sequencing indication.

Objectives

To examine coverage and concordance of clinically relevant genetic variation provided by WGS technologies; to quantitate inherited disease risk and pharmacogenomic findings in WGS data and resources required for their discovery and interpretation; and to evaluate clinical action prompted by WGS findings.

Design, setting, and participants

An exploratory study of 12 adult participants recruited at Stanford University Medical Center who underwent WGS between November 2011 and March 2012. A multidisciplinary team reviewed all potentially reportable genetic findings. Five physicians

SUBMITTER: Dewey FE 

PROVIDER: S-EPMC4119063 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature