Genome screening, reporting, and genetic counseling for healthy populations.
Journal
Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873
Informations de publication
Date de publication:
Feb 2023
Feb 2023
Historique:
received:
05
05
2022
accepted:
16
08
2022
pubmed:
5
11
2022
medline:
15
2
2023
entrez:
4
11
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36331656
doi: 10.1007/s00439-022-02480-7
pii: 10.1007/s00439-022-02480-7
pmc: PMC9638226
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
181-192Subventions
Organisme : CIHR
ID : VR4-172753
Pays : Canada
Organisme : Canadian Institutes of Health Research
ID : VR4-172753
Pays : Canada
Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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