Article
A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.
American journal of human genetics - 3 Mar 2016
Darnell Andrew J, Austin Howard, Bluemke David A, Cannon Richard O, Fischbeck Kenneth, Gahl William, Goldman David, Grady Christine, Greene Mark H, Holland Steven M, Hull Sara Chandros, Porter Forbes D, Resnik David, Rubinstein Wendy S, Biesecker Leslie G
Abstract excerpt
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...
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