Page 39 - DIGITAL e-Book RCPH 2026

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1 REGIONAL CONFERENCE onon O r g a n i s e d b y :
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PRECISION HEALTH
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Abstracts for 1st Regional Conference on Precision Health (RCPH)
15-16th April 2026, Royale Chulan Kuala Lumpur
Rapid WGS for Rare Diseases and Critically ill Patients
Ni-Chung Lee
National Taiwan University Hospital, Taiwan
ABSTRACT
Genetic diseases and congenital anomalies affect approximately 6–9% of live births and represent a
leading cause of pediatric intensive care unit (ICU) admissions. An estimated 10–30% of neonates
admitted to the NICU have an underlying genetic etiology, highlighting the substantial role of genetic
conditions in the pediatric population. Furthermore, nearly 30% of deaths in children under five years
of age are attributable to genetic diseases, reflecting their high associated mortality, morbidity, and
health care expenditure.
Timely genetic diagnosis is critical for improving outcomes in critically ill infants. With advances in
molecular diagnostic technologies, an increasing number of genetic conditions can now be identified.
For patients admitted to the ICU, rapid availability of molecular diagnostic results can significantly aid
clinical decision-making. However, short-read sequencing has limitations in reliably detecting complex
structural variants or methylation abnormalities. In contrast, long-read sequencing enables more
comprehensive genomic analysis with faster turnaround times.
In this talk, I will discuss the current landscape of genomic medicine and the challenges of
implementing it in acute pediatric care. I will also highlight the application of tools for detecting copy
number variations, structural variants, and pseudogenes, and demonstrate how genomic approaches
can directly impact clinical management in pediatric critical care.