The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
received:
16
02
2021
accepted:
14
06
2021
revised:
08
05
2021
pubmed:
9
7
2021
medline:
22
3
2022
entrez:
8
7
2021
Statut:
ppublish
Résumé
Certain large genome cohort studies attempt to return the individual genomic results to the participants; however, the implementation process and psychosocial impacts remain largely unknown. The Tohoku Medical Megabank Project has conducted large genome cohort studies of general residents. To implement the disclosure of individual genomic results, we extracted the potential challenges and obstacles. Major challenges include the determination of genes/disorders based on the current medical system in Japan, the storage of results, prevention of misunderstanding, and collaboration of medical professionals. To overcome these challenges, we plan to conduct multilayer pilot studies, which deal with different disorders/genes. We finally chose familial hypercholesterolemia (FH) as a target disease for the first pilot study. Of the 665 eligible candidates, 33.5% were interested in the pilot study and provided consent after an educational "genetics workshop" on the basic genetics and medical facts of FH. The genetics professionals disclosed the results to the participants. All positive participants were referred to medical care, and a serial questionnaire revealed no significant psychosocial distress after the disclosure. Return of genomic results to research participants was implemented using a well-prepared protocol. To further elucidate the impact of different disorders, we will perform multilayer pilot studies with different disorders, including actionable pharmacogenomics and hereditary tumor syndromes.
Identifiants
pubmed: 34234266
doi: 10.1038/s10038-021-00952-8
pii: 10.1038/s10038-021-00952-8
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
9-17Subventions
Organisme : Ministry of Education, Culture, Sports, Science and Technology (MEXT)
ID : JP 19km0105001
Organisme : Ministry of Education, Culture, Sports, Science and Technology (MEXT)
ID : JP 19km0105002
Organisme : Ministry of Education, Culture, Sports, Science and Technology (MEXT)
ID : JP 19km0105003
Organisme : Ministry of Education, Culture, Sports, Science and Technology (MEXT)
ID : JP 19km0105004
Informations de copyright
© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.
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