title: Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project.
abstract: Whole exome/genome sequencing (WES/WGS) is increasingly offered to ostensibly healthy individuals. Understanding the motivations and concerns of research participants seeking out personal WGS and their preferences regarding return-of-results and data sharing will help optimize protocols for WES/WGS. Baseline interviews including both qualitative and quantitative components were conducted with research participants (n=35) in the HealthSeq project, a longitudinal cohort study of individuals receiving personal WGS results. Data sharing preferences were recorded during informed consent. In the qualitative interview component, the dominant motivations that emerged were obtaining personal disease risk information, satisfying curiosity, contributing to research, self-exploration and interest in ancestry, and the dominant concern was the potential psychological impact of the results. In the quantitative component, 57% endorsed concerns about privacy. Most wanted to receive all personal WGS results (94%) and their raw data (89%); a third (37%) consented to having their data shared to the Database of Genotypes and Phenotypes (dbGaP). Early adopters of personal WGS in the HealthSeq project express a variety of health- and non-health-related motivations. Almost all want all available findings, while also expressing concerns about the psychological impact and privacy of their results.
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Saskia C
authors.initials: SC
authors.lastname: Sanderson
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.|Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Linderman
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Sabrina A
authors.initials: SA
authors.lastname: Suckiel
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: George A
authors.initials: GA
authors.lastname: Diaz
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Randi E
authors.initials: RE
authors.lastname: Zinberg
authors.affiliation: The New School for Social Research, New York, NY, USA.
authors.forename: Kadija
authors.initials: K
authors.lastname: Ferryman
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Melissa
authors.initials: M
authors.lastname: Wasserstein
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.|Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Andrew
authors.initials: A
authors.lastname: Kasarskis
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.|Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Eric E
authors.initials: EE
authors.lastname: Schadt
mesh_terms: D000328:Adult; D000368:Aged; D002874:Chromosome Mapping; D059472:Exome; D005260:Female; D030661:Genetic Privacy / Q000941:ethics*; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing / Q000941:ethics*; D006801:Humans; D033181:Information Dissemination / Q000941:ethics*; D007258:Informed Consent; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D009042:Motivation / Q000941:ethics*; D057285:Precision Medicine / Q000941:ethics*; D017422:Sequence Analysis, DNA