| 日時 | 2021年10月14日（木）12:10～13:10 |
|---|---|
| 会場 | 第4会場（パシフィコ横浜 会議センター3F「303」）およびライブ配信 |
| 座長 | 慶應義塾大学医学部 小児科 武内 俊樹 先生 |
| 演題 | Acute Care Genomics: Accelerating the diagnosis of rare diseases on a national scale |
| 演者 | Associate Professor Sebastian Lunke, Victorian Clinical Genetics Services (VCGS), Murdoch Children’s Research Institute, Melbourne, Australia; Australian Genomics Health Alliance, Australia |
| 要旨 | Introduction: Ultra-rapid genomic testing is emerging as a key diagnostic tool for critically unwell children with suspected monogenic conditions. Health system wide implementation of ultra-rapid genomic testing requires scalable and reliable laboratory processes backed by robust clinical pathways. Aims: To develop and implement a health-system wide ultra-rapid genomics pathway for critically ill children. Methodology: Ultra-rapid testing was implemented at VCGS across successive cohorts totalling over 300 patients using a process of continuous review and improvement, stakeholder engagement, and education. Results: Continuous improvement has informed changes to key laboratory processes, including sequencing approach, bioinformatics and analysis processes, amove to dedicated analysis teams of scientists and clinical geneticists, as well as of out-of-hours sample processing. These revised processes have been applied to a total of over 300 cases, with an average TAT of under 3 calendar days (range 2-5 days), using both exome and genome sequencing. Backed by whole of system change, the implemented model meets demand from over a dozen neonatal and paediatric intensive care units, is scalable to process over 500 cases per year in our laboratory, and is being adopted by other Australian diagnostic laboratories. Conclusion: Implementation of ultra-rapid genomic testing in existing diagnostic laboratory environments is feasible at a national scale but requires whole of system change and is critically dependent, close clinical integration and adequate resourcing. |
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