講演情報
[S15-2]Acute care genomics in Taiwan
○Ni-Chung Lee (Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan)
Genetic diseases and congenital anomalies affect 6-9% of live births, which are the leading cause of intensive care unit (ICU) admission in children. Around 10-30% NICU admission babies may have an underlying genetic etiology, that further highlighted the importance of genetic condition in pediatric population. Around 30% of children mortality before 5 years of age are attributed to genetic diseases, implying the high mortality, morbidity, and health care expenditure in this group of patients. With the advancement of molecular diagnostic technology, more and more genetic condition can be identified. For those who was admitted in ICU, having the molecular result back as soon as possible should benefit in the decision making. In this talk, I will share with you the current genomic medicine and challenges for acute care in pediatrics in Taiwan. We developed a rapid trio exome sequencing for critical pediatrics patients since 2015 with a turnaround time around 5 days. The diagnostic yield is 50.7%. Of those genetic condition identified, 64% have specific treatment. In addition, tools for copy number variation, structural variations, and pseudogenes were also applied. The genomic approach had impact on clinical management for pediatric critical care in Taiwan.