A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.

ABSTRACT: Human genome and exome sequencing are powerful research tools that can generate secondary findings beyond the scope of the research. Most secondary genomic findings are of low importance, but some (for a current estimate of 1%-3% of individuals) confer high risk of a serious disease that could be mitigated by timely medical intervention. The impact and scope of secondary findings in genome and exome sequencing will only increase in the future. There is considerable agreement that high-impact findings should be returned to participants, but many researchers performing genomic research studies do not have the background, skills, or resources to identify, verify, interpret, and return such variants. Here, we introduce a proposal for the formation of a secondary-genomic-findings service (SGFS)

SUBMITTER: Darnell AJ 

PROVIDER: S-EPMC4800041 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature