Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project.
Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project.
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DOI：
10.31662/jmaj.2019-0014
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发表时间：
2019-09-04
期刊：
影响因子：
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通讯作者：
Yamamoto M
中科院分区：
文献类型：
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作者：
Fuse N;Sakurai-Yageta M;Katsuoka F;Danjoh I;Shimizu R;Tamiya G;Nagami F;Kawame H;Higuchi S;Kinoshita K;Kure S;Yamamoto M
东北医疗大银行（TMM）项目是为了对遭受大地震和海啸（东日本大地震，GEJE）的东北地区进行创造性重建而设立的。TMM旨在建立两个大规模的基因组队列和一个管理生物标本和相关信息的综合生物库。它通过将共有15万名参与者的前瞻性基因组队列研究与基因组医学相结合，建立下一代医疗系统，支持社区医学。TMM基因组分析的策略是通过高保真的日本全基因组序列开发一个精心制作的基因组参考面板，基于参考面板设计定制的单核苷酸多态性（SNP）阵列，并随后获得所有TMM队列参与者的基因型数据。疾病相关的基因组信息和组学数据，包括代谢组学和微生物组学分析，为精准医疗和个性化医疗保健（PHC）提供了一个必不可少的平台。伦理、法律的和社会问题（ELSI）和教育对于实施基因组医学非常重要。ELSI对队列研究每个参与者的主要考虑是尊重自主权和保护隐私。此外，不仅需要为TMM项目开发和提供人力资源，而且还需要为精准医疗和PHC的社会实施开发和提供人力资源。我们开始了一项将家族性高胆固醇血症（FH）作为靶疾病的基因组结果回归的试点研究。TMM旨在建立基于个体基因组学和组学信息以及环境和生活方式因素的支持精准医学和PHC的坚实平台，这是在不久的将来超越循证医学的最先进的医疗保健之一。
The Tohoku Medical Megabank (TMM) project was established to provide creative reconstruction of the Tohoku area that suffered from a huge earthquake and ensuing tsunami (the Great East Japan Earthquake, GEJE). TMM aims to establish two large-scale genome cohorts and an integrated biobank managing biospecimen and related information. It supports community medicine by establishing next-generation medical systems through a combination of the prospective genome cohort studies with a total of 150,000 participants and genomic medicine. The strategies for genome analyses in TMM are to develop an elaborate genome reference panel by means of high-fidelity Japanese whole-genome sequence, to design custom single nucleotide polymorphism (SNP) arrays based on the reference panel, and to obtain genotype data for all the TMM cohort participants subsequently. Disease-associated genomic information and omics data, including metabolomics and microbiome analysis, provide an essential platform for precision medicine and personalized healthcare (PHC). Ethical, legal, and social issues (ELSI) and education are important for implementing genomic medicine. The major considerations of ELSI regarding each participant of the cohort studies are the respect for the autonomy and the protection of privacies. Moreover, developing and provide human resources not only for the TMM project but also for the social implementation of precision medicine and PHC is required. We started a pilot study of the return of genomic results for familial hypercholesterolemia (FH) as a target disease. TMM aims to establish solid platforms that support precision medicine and PHC based on the genomic and omics information and environmental and lifestyle factors of the individuals, which is one of the most advanced medical care beyond the evidenced-based medicine in the near future.