Plenary Session 2
3月26日［金］11:15-12:45
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Cardiovascular precision medicine based on GWAS findings
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次世代シークエンス技術の発展は大規模かつ網羅的なゲノム配列解読を可能にした。大規模ゲノムワイド関連解析（GWAS）による疾患感受性遺伝子変異の同定だけでなく、がんゲノム領域におけるパネル検査の導入など、ゲノム医療のコモディティ化を引き起こしている。コンシューマー型ゲノム検査企業の台頭やバイオバンクデータの公開など、「誰もが自分たちのゲノムを知ることができる時代」が到来した。得られた大規模ゲノム情報に基づき個人の健康寿命の延伸や疾患発症予測を行う先制医療の社会実装に期待が高まっている。循環器疾患領域においても、先制医療の精密化が必要である。GWAS結果に基づきゲノム領域全体の遺伝子変異を統合するpolygenic risk score（PRS）の導入は、集団中における疾患発症高リスク群の同定を可能にし、循環器疾患においても活用が有用と考えられている。一方、PRSに基づくリスク推定値には集団構造化の影響などバイアスが生じる点も指摘されており、臨床応用に向けた解析手法改良が進められている。GWASだけでなく、多彩なオミクス情報を活用することで、先制医療の高精度化が可能と考えられている。シングルセルシークエンスに代表されるオミクス情報取得技術の発展は、細胞組織特異的なオミクス情報を時系列的に取得することを可能にした。ポストPRS時代を見据えたオミクス情報解析ストラテジーをどのように構築すべきか、更なる検討が必要である。本シンポジウムでは、循環器疾患を中心に先制医療の今後を論じたい。
Development of next generation sequencing technology has enabled large-scale and comprehensive understanding of human genomes. As illustrated in identification of disease risk variants by genome-wide association studies (GWAS) and panel-based sequencing of cancer genomes, genomic medicine has become commoditized. Consumer-based genome services by companies and public deposits of biobank-driven genome data have promoted the society where “everyone knows everyone’s genome”. Elongation of human lifespan and implementation of precision medicine for disease risk prediction based on human genomes are warranted. In the field of cardiovascular diseases, development of high-resolution precision medicine models is necessary. Polygenic risk score (PRS), which aggregates genome-wide disease risk variant genotypes of individuals, can stratify subjects in the population through disease risk prediction. PRS is now considered as a promising approach of precision medicine in a variety of medical fields including cardiovascular medicine. On the other hands, pitfalls of PRS is also reported, such as bias due to population stratification. Further analytical improvements towards unbiased PRS estimation is warranted. In addition to GWAS, utilization of omics information can also contribute to construction of precision medicine models. Development of omics assay technologies, such as single cell sequencing, has enabled collection of tissue-specific and time course omics information. We need to focus more on how to develop omics-based precision medicine of cardiovascular diseases in the post GWAS era. We would like to discuss this challenging topic in this symposium.
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Masayuki Yoshida
Department of Life Science and Bioethics, Tokyo Medical and Dental University, Tokyo
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Yukinori Okada
Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita
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Toshihiro Tanaka
Department of Human Genetics and Disease Diversity, Tokyo Medical and Dental University, Tokyo
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Seitaro Nomura
Department of Cardiovascular Medicine, The University of Tokyo, Tokyo
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Kaoru Ito
Laboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Yokohama
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Akihiro Nomura
Innovative Clinical Research Center, Kanazawa University, Kanazawa
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Yukinori Okada
Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita
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