The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.

Autor: Kawame H; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan. hkawame@megabank.tohoku.ac.jp., Fukushima A; Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Iwate, Japan., Fuse N; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Nagami F; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Suzuki Y; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Sakurai-Yageta M; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Yasuda J; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Yamaguchi-Kabata Y; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Kinoshita K; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Ogishima S; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Takai T; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Kuriyama S; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Hozawa A; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Nakaya N; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Nakamura T; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Minegishi N; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Sugawara J; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Suzuki K; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Tomita H; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Uruno A; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Kobayashi T; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Aizawa Y; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Tokutomi T; Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Iwate, Japan., Yamamoto K; Department of Clinical Genetics, Iwate Medical University, Iwate, Japan., Ohneda K; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan. kohneda@megabank.tohoku.ac.jp., Kure S; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan., Aoki Y; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Miyagi, Japan., Katagiri H; Department of Metabolism and Diabetes, Tohoku University Graduate School of Medicine, Miyagi, Japan., Ishigaki Y; Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Iwate, Japan., Sawada S; Department of Metabolism and Diabetes, Tohoku University Graduate School of Medicine, Miyagi, Japan., Sasaki M; Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Iwate, Japan., Yamamoto M; Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan. masiyamamoto@med.tohoku.ac.jp.
Jazyk: angličtina
Zdroj: Journal of human genetics [J Hum Genet] 2022 Jan; Vol. 67 (1), pp. 9-17. Date of Electronic Publication: 2021 Jul 08.
DOI: 10.1038/s10038-021-00952-8
Abstrakt: 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.
(© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)
Databáze: MEDLINE
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