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

Abstract

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.

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Acknowledgements

The authors are grateful to all participants and municipality and medical institution staff members who helped in this project. We also thank the members of ToMMo and IMM, including GMRCs, office and administrative personnel for their assistance, and Ms Miho Kuriki for her artwork in the article . The complete list of members is available at https://www.megabank.tohoku.ac.jp/english/a201201/ for ToMMo and at http://iwate-megabank.org/en/about/departments/ for IMM. The help extended by the members of Return of Genomic Results Review Committee with their devoted and enthusiastic discussion is acknowledged. This work is supported by the Tohoku Medical Megabank Project of Ministry of Education, Culture, Sports, Science and Technology (MEXT) and AMED (JP 19km0105001, JP 19km0105002, JP 19km0105003, and JP 19km0105004).

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Correspondence to Hiroshi Kawame, Kinuko Ohneda or Masayuki Yamamoto.

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Kawame, H., Fukushima, A., Fuse, N. et al. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. J Hum Genet 67, 9–17 (2022). https://doi.org/10.1038/s10038-021-00952-8

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