講演情報
[S15-1]信州大学医学部附属病院遺伝子医療研究センターが展開する小児疾患のクリニカル・シークエンス
○古庄 知己1,2,3,4 (1.信州大学 医学部 遺伝医学教室, 2.信州大学 医学部附属病院 遺伝子医療研究センター, 3.信州大学 医学部 クリニカル・シークエンス学講座, 4.信州大学 基盤研究支援センター)
Clinical sequencing of childhood diseases was not prepared in Japan in the early 2010s, though a substantial number of genes of such diseases were identified and analyzed in a research-basis. In 2012, a research through NGS-based panel sequencing of hereditary connective tissue disorders (HCTDs) was started in Center for Medical Genetics, Shinshu University Hospital. In 2017, clinical sequencing was introduced mainly for diseases genetic testing of which was covered by National Health Insurance (NHI), including HCTDs and childhood genetic diseases. Since 2018, clinical sequencing of samples from other institutes including two children’s hospitals has been performed. In 2020, an endowed chair named “Division of Clinical Sequencing, Shinshu University School of Medicine” sponsored by a clinical testing company and a scientific instrumentation company was established, where fruitful discussion is made in a weekly cross-institutional meeting. At present, genetic testing of 95 diseases covered by NHI and 114 diseased not covered by NHI is provide. In this symposium, the current status and problems of this system will be presented, which would hopefully make some contribution to the development of clinical sequencing in Japan.