講演情報
[S15-3]Rapid Genetic Diagnosis in Sick Neonates in Japan
○武内 俊樹 (慶應義塾大学 医学部 小児科)
Recent advances in genome analysis and bioinformatics have greatly reduced the cost and time required for genomic diagnosis. In collaboration with perinatal care centers starting in Japan, we have been conducting research and development of rapid genetic diagnosis for severely ill neonates admitted to neonatal intensive care units. The pandemic of the COVID-19 has made it possible to rapidly deliver diagnostic results to medical institutions in remote areas through the use of teleconferencing systems, thereby creating a network for diagnostic research. With the development of new disease-specific therapies such as gene therapy and anti-oligonucleotides, rapid genomic diagnosis is becoming increasingly important. I am going to discuss the usefulness of rapid genomic diagnosis for critically ill neonates and its future prospects.