Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

• Published in: European journal of human genetics : EJHG 2013-03, Vol.21 (3), p.261-265
• Main Authors: Facio, Flavia M, Eidem, Haley, Fisher, Tyler, Brooks, Stephanie, Linn, Amy, Kaphingst, Kimberly A, Biesecker, Leslie G, Biesecker, Barbara B
• Format: Article
• Language: English
• Subjects: Attitude; Attitudes; Cancer; Clinical medicine; Consumers; Data processing; Disease; Female; Genetic research; Genome, Human; Genomes; Genomics; Humans; Intention; Learning; Male; Middle Aged; Motivation; National Institutes of Health (U.S.); Personal health; Public health; Regression Analysis; Sequence Analysis, DNA; Studies; United States; Working groups
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/ejhg.2012.179

Genome sequencing has been rapidly integrated into clinical research and is currently marketed to health-care practitioners and consumers alike. The volume of sequencing data generated for a single individual and the wide range of findings from whole-genome sequencing raise critical questions about the return of results and their potential value for end-users. We conducted a mixed-methods study of 311 sequential participants in the NIH ClinSeq study to assess general preferences and specific attitudes toward learning results. We tested how these variables predicted intentions to receive results within four categories of findings ranging from medically actionable to variants of unknown significance. Two hundred and ninety-four participants indicated a preference to learn their genome sequencing results. Most often, participants cited disease prevention as their reason, including intention to change their lifestyle behaviors. Participants held positive attitudes, strongly perceived social norms and strong intentions to learn results, although there were significant mean differences among four categories of findings (P