title: Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.
abstract: Providing ostensibly healthy individuals with personal results from whole-genome sequencing could lead to improved health and well-being via enhanced disease risk prediction, prevention, and diagnosis, but also poses practical and ethical challenges. Understanding how individuals react psychologically and behaviourally will be key in assessing the potential utility of personal whole-genome sequencing. We conducted an exploratory longitudinal cohort study in which quantitative surveys and in-depth qualitative interviews were conducted before and after personal results were returned to individuals who underwent whole-genome sequencing. The participants were offered a range of interpreted results, including Alzheimer's disease, type 2 diabetes, pharmacogenomics, rare disease-associated variants, and ancestry. They were also offered their raw data. Of the 35 participants at baseline, 29 (82.9%) completed the 6-month follow-up. In the quantitative surveys, test-related distress was low, although it was higher at 1-week than 6-month follow-up (Z=2.68, P=0.007). In the 6-month qualitative interviews, most participants felt happy or relieved about their results. A few were concerned, particularly about rare disease-associated variants and Alzheimer's disease results. Two of the 29 participants had sought clinical follow-up as a direct or indirect consequence of rare disease-associated variants results. Several had mentioned their results to their doctors. Some participants felt having their raw data might be medically useful to them in the future. The majority reported positive reactions to having their genomes sequenced, but there were notable exceptions to this. The impact and value of returning personal results from whole-genome sequencing when implemented on a larger scale remains to be seen.
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.|Health Behaviour Research Centre, Department of Epidemiology and Public Health, University College London, London, UK.|Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
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: Randi
authors.initials: R
authors.lastname: Zinberg
authors.affiliation: The Children's Hospital at Montefiore and the Albert Einstein College of Medicine, Bronx, 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.
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.|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: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D005817:Genetic Counseling / Q000941:ethics / Q000523:psychology*; D020022:Genetic Predisposition to Disease / Q000523:psychology*; D005820:Genetic Testing / Q000941:ethics*; D015894:Genome, Human; D006801:Humans; D008297:Male; D008875:Middle Aged; D010342:Patient Acceptance of Health Care; D010361:Patients / Q000523:psychology; D017422:Sequence Analysis, DNA / Q000941:ethics*; D014342:Truth Disclosure