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dc.contributor.authorCassa, Christopher A.
dc.contributor.authorSavage, Sarah K.
dc.contributor.authorTaylor, Patrick L.
dc.contributor.authorGreen, Robert C.
dc.contributor.authorMcGuire, Amy L.
dc.contributor.authorMandl, Kenneth D.
dc.date.accessioned2013-02-07T20:23:57Z
dc.date.available2013-02-07T20:23:57Z
dc.date.issued2011-12
dc.date.submitted2011-06
dc.identifier.issn1088-9051
dc.identifier.urihttp://hdl.handle.net/1721.1/76767
dc.description.abstractThere 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.en_US
dc.description.sponsorshipNational Library of Medicine (U.S.) (grant LM010470-01)en_US
dc.description.sponsorshipBoston Children's Hospital. Manton Center for Orphan Disease Researchen_US
dc.description.sponsorshipEunice Kennedy Shriver National Institute of Child Health and Human Development (U.S.) (training grant HD040128)en_US
dc.description.sponsorshipBaylor College of Medicine (BCM Clinical and Translational Research program)en_US
dc.description.sponsorshipBaylor College of Medicine (Baylor Annual Fund)en_US
dc.description.sponsorshipEunice Kennedy Shriver National Institute of Child Health and Human Development (U.S.) (AG027841)en_US
dc.description.sponsorshipEunice Kennedy Shriver National Institute of Child Health and Human Development (U.S.) (HG02213)en_US
dc.description.sponsorshipEunice Kennedy Shriver National Institute of Child Health and Human Development (U.S.) (HG005092)en_US
dc.language.isoen_US
dc.publisherCold Spring Harbor Laboratory Pressen_US
dc.relation.isversionofhttp://dx.doi.org/10.1101/gr.127845.111en_US
dc.rightsCreative Commons Attribution Non-Commercialen_US
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0en_US
dc.sourceGenome Researchen_US
dc.titleDisclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibilityen_US
dc.typeArticleen_US
dc.identifier.citationCassa, C. A. et al. “Disclosing Pathogenic Genetic Variants to Research Participants: Quantifying an Emerging Ethical Responsibility.” Genome Research 22.3 (2011): 421–428. Web.© 2012 by Cold Spring Harbor Laboratory Press.en_US
dc.contributor.departmentHarvard University--MIT Division of Health Sciences and Technologyen_US
dc.contributor.departmentMassachusetts Institute of Technology. Department of Civil and Environmental Engineeringen_US
dc.contributor.mitauthorCassa, Christopher A.
dc.contributor.mitauthorMcGuire, Amy L.
dc.contributor.mitauthorMandl, Kenneth D.
dc.relation.journalGenome Researchen_US
dc.eprint.versionFinal published versionen_US
dc.type.urihttp://purl.org/eprint/type/JournalArticleen_US
eprint.statushttp://purl.org/eprint/status/PeerRevieweden_US
dspace.orderedauthorsCassa, C. A.; Savage, S. K.; Taylor, P. L.; Green, R. C.; McGuire, A. L.; Mandl, K. D.en
mit.licensePUBLISHER_CCen_US
mit.metadata.statusComplete


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