Genome screening, reporting, and genetic counseling for healthy populations

Autor: Selina Casalino, Erika Frangione, Monica Chung, Georgia MacDonald, Sunakshi Chowdhary, Chloe Mighton, Hanna Faghfoury, Yvonne Bombard, Lisa Strug, Trevor J. Pugh, Jared Simpson, Saranya Arnoldo, Navneet Aujla, Erin Bearss, Alexandra Binnie, Bjug Borgundvaag, Howard Chertkow, Marc Clausen, Marc Dagher, Luke Devine, David Di Iorio, Steven Marc Friedman, Chun Yiu Jordan Fung, Anne-Claude Gingras, Lee W. Goneau, Deepanjali Kaushik, Zeeshan Khan, Elisa Lapadula, Tiffany Lu, Tony Mazzulli, Allison McGeer, Shelley L. McLeod, Gregory Morgan, David Richardson, Harpreet Singh, Seth Stern, Ahmed Taher, Iris Wong, Natasha Zarei, Elena Greenfeld, Limin Hao, Matthew Lebo, William Lane, Abdul Noor, Jennifer Taher, Jordan Lerner-Ellis
Rok vydání: 2022
Předmět:
Zdroj: Human Genetics. 142:181-192
ISSN: 1432-1203
0340-6717
Popis: 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.
Databáze: OpenAIRE
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