title: Impact of direct-to-consumer genomic testing at long term follow-up.
abstract: BACKGROUND
  There are few empirical data to inform the debate surrounding the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. This study aimed to determine the long term psychological, behavioural, and clinical impacts of genomic risk testing for common disease.
  
  
  METHODS
  The Scripps Genomic Health Initiative is a prospective longitudinal cohort study of adults who purchased the Navigenics Health Compass, a commercially available genomic test. Web based assessments were administered at baseline, short (3 months), and long term (1 year) follow-up.
  
  
  RESULTS
  2240 participants completed either or both follow-ups and a subset of 1325 completed long term follow-up. There were no significant differences from baseline in anxiety (p=0.50), fat intake (p=0.34), or exercise (p=0.39) at long term follow-up, and 96.8% of the sample had no test related distress. Longitudinal linear mixed model analyses were consistent with results of cross-sectional analyses. Screening test completion was associated with sharing genomic test results with a physician (36.0% shared; p<0.001) and perceived utility of the test (61.5% high perceived utility; p=0.002), but was not associated with the genomic risk estimate values themselves.
  
  
  CONCLUSIONS
  Over a third of DTC genomic test recipients shared their results with their own physician during an approximate 1 year follow-up period, and this sharing was associated with higher screening test completion. Genomic testing was not associated with long term psychological risks, and most participants reportedly perceived the test to be of high personal utility.
authors.affiliation: Scripps Genomic Medicine, Scripps Translational Science Institute, 3344 N. Torrey Pines Court, Suite 300, La Jolla, CA 92037, USA. cbloss@scripps.edu
authors.forename: Cinnamon S
authors.initials: CS
authors.lastname: Bloss
authors.forename: Nathan E
authors.initials: NE
authors.lastname: Wineinger
authors.forename: Burcu F
authors.initials: BF
authors.lastname: Darst
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Schork
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Topol
mesh_terms: D000328:Adult; D015331:Cohort Studies; D003256:Community Participation; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease / Q000523:psychology*; D005820:Genetic Testing; D023281:Genomics; D006801:Humans; D008297:Male; D057285:Precision Medicine; D011446:Prospective Studies; D011795:Surveys and Questionnaires
keywords: consumer genomics; direct-to-consumer; genetic testing; genomic risk testing; personalized medicine