Cassa, Savage, Taylor, Green, McGuire, Mandl. Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility. Genome Res. 2012;22:421–8.
Notes
Cassa, Christopher ASavage, Sarah KTaylor, Patrick LGreen, Robert CMcGuire, Amy LMandl, Kenneth DengAG027841/AG/NIA NIH HHS/HD040128/HD/NICHD NIH HHS/HG005092/HG/NHGRI NIH HHS/HG02213/HG/NHGRI NIH HHS/K24 AG027841/AG/NIA NIH HHS/LM010470-01/LM/NLM NIH HHS/R01 HG002213/HG/NHGRI NIH HHS/R01 HG005092/HG/NHGRI NIH HHS/Research Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't2011/12/08 06:00Genome Res. 2012 Mar;22(3):421-8. doi: 10.1101/gr.127845.111. Epub 2012 Jan 6.
Abstract
There is an emerging consensus that when investigators obtain genomic data from research participants, they may incur an ethical responsibility to inform at-risk individuals about clinically significant variants discovered during the course of their research. With whole-exome sequencing becoming commonplace and the falling costs of full-genome sequencing, there will be an increasingly large number of variants identified in research participants that may be of sufficient clinical relevance to share. An explicit approach to triaging and communicating these results has yet to be developed, and even the magnitude of the task is uncertain. To develop an estimate of the number of variants that might qualify for disclosure, we apply recently published recommendations for the return of results to a defined and representative set of variants and then extrapolate these estimates to genome scale. We find that the total number of variants meeting the threshold for recommended disclosure ranges from 3955-12,579 (3.79%-12.06%, 95% CI) in the most conservative estimate to 6998-17,189 (6.69%-16.48%, 95% CI) in an estimate including variants with variable disease expressivity. Additionally, if the growth rate from the previous 4 yr continues, we estimate that the total number of disease-associated variants will grow 37% over the next 4 yr.
Last updated on 02/25/2023