Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study

Résumé fourni par la source

Purpose: Opportunistic genome sequencing (GS) allows for the return of findings to clinical and research cohorts. We report on comprehensive GS results from the GENCOV study in Ontario, Canada. Methods: GS data were analyzed for clinically significant variants associated with monogenic disease and carrier status for autosomal recessive and X-linked conditions, pharmacogenomic variation, polygenic risk scores for common conditions, human leukocyte antigen and blood group genotypes, and genetic ancestry. GS results were summarized using descriptive statistics. Results: GS was completed on 1292 participants; 53% were female, 53% were 18 to 39 years old, and 816 (63%) were estimated to have European genetic ancestry. All (100%) had a variant associated with drug metabolism, 845 (65%) with increased polygenic risk scores, 735 (57%) with a risk-associated human leukocyte antigen genotype, and 857 (69%) and 91 (7%) with a rare red blood cell and/or platelet antigen, respectively. Of 851 who received reports, 261 (31%) had a variant associated with monogenic disease (178 or 21% were considered medically actionable) and 782 (92%) had at least one variant associated with carrier status. Conclusion: Opportunistic GS demonstrated that many individuals harbor GS findings impacting their health, illustrating the potential of GS to inform personalized and proactive health care for Canadians.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.