The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project
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DOI：
10.1038/s10038-021-00952-8
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发表时间：
2021-07-08
影响因子：
3.5
通讯作者：
Yamamoto, Masayuki
中科院分区：
文献类型：
--
作者：
Kawame, Hiroshi;Fukushima, Akimune;Yamamoto, Masayuki
某些大型基因组队列研究试图将个体基因组结果返回给参与者;然而，实施过程和心理社会影响在很大程度上仍然未知。东北医疗Megabank项目对普通居民进行了大型基因组队列研究。为了实现个人基因组结果的披露，我们提取了潜在的挑战和障碍。主要挑战包括基于日本现行医疗体系的基因/疾病的确定、结果的存储、防止误解以及医疗专业人员的合作。为了克服这些挑战，我们计划进行多层次的试点研究，处理不同的疾病/基因。我们最终选择家族性高胆固醇血症（FH）作为第一个试点研究的目标疾病。在665名合格的候选人中，33.5%的人对试点研究感兴趣，并在关于FH的基本遗传学和医学事实的教育性“遗传学研讨会”后表示同意。遗传学专家向参与者透露了结果。所有阳性的参与者都被转介到医疗护理，一系列的问卷调查显示，披露后没有显着的心理社会困扰。使用精心准备的方案将基因组结果返还给研究参与者。为了进一步阐明不同疾病的影响，我们将对不同疾病进行多层试点研究，包括可操作的药物基因组学和遗传性肿瘤综合征。
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.