An article just released today in Genome Medical, and available here to download in its entirety, reports on a groundbreaking study of over 650 individuals who have received whole genome sequencing as a predisposition screening tool.
The authors, who are all involved in the PeopleSeq Consortium, represent a collaboration between researchers at SoundRocket, Brigham and Women's Hospital; Boston University School of Medicine; Middlebury College; Icahn School of Medicine at Mount Sinai; Illumina, Inc.; Geisinger National Precision Health; Open Humans Foundation; Harvard Medical School; University of Vermont; Baylor College of Medicine; University College London; McGill University; The Broad Institute; and Partners Healthcare Personalized Medicine.
Tracking those who have received whole genome sequencing with pre-sequencing baseline surveys, followed by 3-month follow-ups has provided a window for how early adopters are using such tests. The study examines their motivations (98% were curious about their genetic makeup), their concerns (57% had concerns about how predictive the test would actually be, and almost 48% were concerned about the privacy of the information), and how the results have had an impact on their behavior. Approximately 8 months after receiving their results, only a little over 13% acted on the information provided with a healthcare provider, and less than 10% changed diet, exercise, or insurance coverage. And very few (under 3%) regretted the decision to have the test done.
SoundRocket assisted in the design and implementation of this study, and Scott Crawford of SoundRocket assisted in reviewing drafts of the article.