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Genome screening, reporting, and genetic counseling for healthy populations.
Casalino, Selina; Frangione, Erika; Chung, Monica; MacDonald, Georgia; Chowdhary, Sunakshi; Mighton, Chloe; Faghfoury, Hanna; Bombard, Yvonne; Strug, Lisa; Pugh, Trevor J; Simpson, Jared; Arnoldo, Saranya; Aujla, Navneet; Bearss, Erin; Binnie, Alexandra; Borgundvaag, Bjug; Chertkow, Howard; Clausen, Marc; Dagher, Marc; Devine, Luke; Di Iorio, David; Friedman, Steven Marc; Fung, Chun Yiu Jordan; Gingras, Anne-Claude; Goneau, Lee W; Kaushik, Deepanjali; Khan, Zeeshan; Lapadula, Elisa; Lu, Tiffany; Mazzulli, Tony; McGeer, Allison; McLeod, Shelley L; Morgan, Gregory; Richardson, David; Singh, Harpreet; Stern, Seth; Taher, Ahmed; Wong, Iris; Zarei, Natasha; Greenfeld, Elena; Hao, Limin; Lebo, Matthew; Lane, William; Noor, Abdul; Taher, Jennifer; Lerner-Ellis, Jordan.
  • Casalino S; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Frangione E; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
  • Chung M; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • MacDonald G; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
  • Chowdhary S; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Mighton C; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
  • Faghfoury H; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Bombard Y; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
  • Strug L; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Pugh TJ; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
  • Simpson J; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Arnoldo S; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
  • Aujla N; University of Toronto, Toronto, Canada.
  • Bearss E; Unity Health Toronto, Toronto, Canada.
  • Binnie A; University Health Network, Toronto, Canada.
  • Borgundvaag B; University of Toronto, Toronto, Canada.
  • Chertkow H; Unity Health Toronto, Toronto, Canada.
  • Clausen M; The Hospital for Sick Children, Toronto, Canada.
  • Dagher M; University Health Network, Toronto, Canada.
  • Devine L; Ontario Institute for Cancer Research, Toronto, Canada.
  • Di Iorio D; Ontario Institute for Cancer Research, Toronto, Canada.
  • Friedman SM; University of Toronto, Toronto, Canada.
  • Fung CYJ; William Osler Health System, Brampton, Canada.
  • Gingras AC; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Goneau LW; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
  • Kaushik D; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Khan Z; William Osler Health System, Brampton, Canada.
  • Lapadula E; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Lu T; University of Toronto, Toronto, Canada.
  • Mazzulli T; Baycrest Health Sciences, Toronto, Canada.
  • McGeer A; Unity Health Toronto, Toronto, Canada.
  • McLeod SL; University of Toronto, Toronto, Canada.
  • Morgan G; Women's College Hospital, Toronto, Canada.
  • Richardson D; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Singh H; University of Toronto, Toronto, Canada.
  • Stern S; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Taher A; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
  • Wong I; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Zarei N; University Health Network, Toronto, Canada.
  • Greenfeld E; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Hao L; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
  • Lebo M; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
  • Lane W; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
  • Noor A; University of Toronto, Toronto, Canada.
  • Taher J; Dynacare Medical Laboratories, Brampton, Canada.
  • Lerner-Ellis J; William Osler Health System, Brampton, Canada.
Hum Genet ; 2022 Nov 04.
Article in English | MEDLINE | ID: covidwho-2253915
ABSTRACT
Rapid advancements of genome sequencing (GS) technologies have enhanced our understanding of the relationship between genes and human disease. To incorporate genomic information into the practice of medicine, new processes for the analysis, reporting, and communication of GS data are needed. Blood samples were collected from adults with a PCR-confirmed SARS-CoV-2 (COVID-19) diagnosis (target N = 1500). GS was performed. Data were filtered and analyzed using custom pipelines and gene panels. We developed unique patient-facing materials, including an online intake survey, group counseling presentation, and consultation letters in addition to a comprehensive GS report. The final report includes results generated from GS data (1) monogenic disease risks; (2) carrier status; (3) pharmacogenomic variants; (4) polygenic risk scores for common conditions; (5) HLA genotype; (6) genetic ancestry; (7) blood group; and, (8) COVID-19 viral lineage. Participants complete pre-test genetic counseling and confirm preferences for secondary findings before receiving results. Counseling and referrals are initiated for clinically significant findings. We developed a genetic counseling, reporting, and return of results framework that integrates GS information across multiple areas of human health, presenting possibilities for the clinical application of comprehensive GS data in healthy individuals.

Full text: Available Collection: International databases Database: MEDLINE Type of study: Diagnostic study / Observational study / Prognostic study Topics: Variants Language: English Year: 2022 Document Type: Article Affiliation country: S00439-022-02480-7

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Full text: Available Collection: International databases Database: MEDLINE Type of study: Diagnostic study / Observational study / Prognostic study Topics: Variants Language: English Year: 2022 Document Type: Article Affiliation country: S00439-022-02480-7