Genome screening, reporting, and genetic counseling for healthy populations

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. Supplementary Information The online version contains supplementary material available at 10.1007/s00439-022-02480-7.

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children

“…[19][20][21][22][23][24] Genome sequencing has entered the realm of preventive and precision medicine as an alternative to targeted panels to screen for specific disease risk, expanded carrier testing, pharmacogenomic variants, and polygenic risk scores, for example. [25][26][27][28] With decreasing sequencing costs, GS is becoming a viable option for population-wide screening, [29][30][31][32][33] with particular interest for newborn screening (NBS). [34][35][36] Preliminary studies suggest that the integration of rapid GS with traditional NBS is feasible, 37 and large publicly or privately funded initiatives are exploring the feasibility, clinical utility, and cost-effectiveness of GS for newborns.…”