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

Andrew J. Darnell, Howard Austin, David A. Bluemke, Richard O. Cannon, Kenneth Fischbeck, William Gahl, David Goldman, Christine Grady, Mark H. Greene, Steven M. Holland, Sara Chandros Hull, Forbes D. Porter, David Resnik, Wendy S. Rubinstein, Leslie G. Biesecker

Research output: Contribution to journalComment/debatepeer-review

17 Scopus citations


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) that would support researchers by enabling the return of clinically actionable sequencing results to research participants in a standardized manner. We describe a proposed structure for such a centralized service and evaluate the advantages and challenges of the approach. We suggest that such a service would be of greater benefit to all parties involved than present practice, which is highly variable. We encourage research centers to consider the adoption of a centralized SGFS.

Original languageEnglish (US)
Pages (from-to)435-441
Number of pages7
JournalAmerican journal of human genetics
Issue number3
StatePublished - Mar 3 2016

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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