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Genome Screening, Reporting and Counseling for Healthy Populations
  • +16
  • Selina Casalino,
  • Erika Frangione,
  • Monica Chung,
  • Georgia MacDonald,
  • Sunakshi Chowdhary,
  • Chloe Mighton,
  • Hanna Faghfoury,
  • Yvonne Bombard,
  • Lisa Strug,
  • Trevor Pugh,
  • Jared Simpson,
  • Elena Greenfeld,
  • Limin Hao,
  • Matthew Lebo,
  • William Lane,
  • Abdul Noor,
  • Jennifer Taher,
  • Jordan Lerner-Ellis,
  • Study Workgroup GENCOV
Selina Casalino
Mount Sinai Hospital

Corresponding Author:[email protected]

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Erika Frangione
Mount Sinai Hospital
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Monica Chung
Mount Sinai Hospital
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Georgia MacDonald
Mount Sinai Hospital
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Sunakshi Chowdhary
Mount Sinai Hospital
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Chloe Mighton
Mount Sinai Hospital
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Hanna Faghfoury
University Health Network
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Yvonne Bombard
University of Toronto
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Lisa Strug
The Hospital for Sick Children
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Trevor Pugh
University Health Network
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Jared Simpson
Ontario Institute for Cancer Research
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Elena Greenfeld
Mount Sinai Hospital
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Limin Hao
Partners Personalized Medicine
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Matthew Lebo
Partners Personalized Medicine
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William Lane
Brigham and Women's Hospital Biomedical Research Institute
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Abdul Noor
Mount Sinai Hospital
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Jennifer Taher
Mount Sinai Hospital
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Jordan Lerner-Ellis
Mount Sinai Hospital
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Study Workgroup GENCOV
Mount Sinai Hospital
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Abstract

Introduction: Rapid advancements of genome sequencing (GS) technologies have enhanced our understanding of the relationship between genes and human disease. In order to incorporate genomic information into the practice of medicine, new processes for the analysis, reporting and communication of GS data are needed. Methods: blood samples were collected from adults with a PCR-confirmed SARS-CoV-2 (COVID-19) diagnosis (target N=1500). GS was performed. Data was 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. Results: 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. Conclusion: 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.