title: Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.
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<0.008). Participants of non-European ancestry (NEA) were as likely as those of EA to choose SF when consented by a genetic counselor (GC) (82% NEA vs 88.3% EA, P=0.09) but significantly less likely when consented by a physician (67.4% NEA vs 85.4% EA, P=0.001). Controlling for proband diagnosis, individuals of NEA were 2.13-fold (95% CI: 1.11-4.08) more likely to choose SF when consented by a GC rather than a physician. Participants of NEA were 3-fold more likely than those of EA to decline all study results (14.7% NEA vs 5.4% EA, P<0.008). In this ethnically diverse population, whereas most participants desired PR and SF, more than 20% declined some or all results, highlighting the importance of research participant choice.
authors.affiliation: National Human Genome Research Institute, NIH, Bethesda, MD, USA.|Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD, USA.
authors.forename: Katie
authors.initials: K
authors.lastname: Fiallos
authors.affiliation: Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Carolyn
authors.initials: C
authors.lastname: Applegate
authors.affiliation: Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.|Berman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Debra Jh
authors.initials: DJ
authors.lastname: Mathews
authors.affiliation: Berman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Juli
authors.initials: J
authors.lastname: Bollinger
authors.affiliation: Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.|Ambry Genetics, Inc., Aliso Viejo, CA, USA.
authors.forename: Amanda L
authors.initials: AL
authors.lastname: Bergner
authors.affiliation: Department of Medicine, Division of Cardiology, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Cynthia A
authors.identifier: 0000-0001-8040-4600
authors.initials: CA
authors.lastname: James
mesh_terms: D030541:Databases, Genetic / Q000592:standards*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000453:epidemiology / Q000235:genetics*; D015894:Genome, Human; D055106:Genome-Wide Association Study / Q000379:methods / Q000592:standards*; D006801:Humans; D008297:Male; D010375:Pedigree; D035842:Research Subjects