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.