Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.

TitleChoices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.
Publication TypeJournal Article
Year of Publication2017
AuthorsFiallos, K, Applegate, C, Mathews, DJh, Bollinger, J, Bergner, AL, James, CA
JournalEur J Hum Genet
Date Published2017 Mar 08
ISSN1476-5438
Abstract

Although consensus is building that primary (PR) and secondary findings (SF) from genomic research should be offered to participants under some circumstances, data describing (1) actual choices of study participants and (2) factors associated with these choices are limited, hampering study planning. We conducted a cross-sectional analysis of choices made for return of PR and SF during informed consent by members of the first 247 families (790 individuals) enrolled in the Baylor-Hopkins Center for Mendelian Genomics, a genome sequencing study. Most (619; 78.3%) chose to receive SF and PR, 66 (8.4%) chose PR only, 65 (8.2%) wanted no results, and 40 (5.1%) chose SF only. Choosing SF was associated with an established clinical diagnosis in the proband (87.8 vs 79%, P=0.009) and European ancestry (EA) (87.7 vs 73%, P

DOI10.1038/ejhg.2017.21
Alternate JournalEur. J. Hum. Genet.
PubMed ID28272539
Grant ListUM1 HG006542 / HG / NHGRI NIH HHS / United States