Nanopore-based HLA testing: a rising star driving real-world clinical implementation in pharmacogenomics

Biography

Thidathip Wongsurawat (Tip), PhD, earned her doctorate from Nanyang Technological University, Singapore. She currently leads the Division of Medical Bioinformatics at the Faculty of Medicine, Siriraj Hospital, Mahidol University, Thailand. As the Head of the Oxford Nanopore Centre of Excellence in Bangkok, Tip specializes in the real-world clinical implementation of nanopore sequencing technology, driving advancements in precision medicine and genomic healthcare.

Abstract

Pharmacogenomics (PGx) paves the way for personalized medicine by aligning drug prescriptions with individual genetic profiles. In Thailand, PGx guidelines incorporate human leukocyte antigen (HLA) A and HLA-B genotyping to mitigate adverse drug reactions (ADRs) to carbamazepine, allopurinol, and abacavir. However, existing methods, such as polymerase chain reaction with sequence-specific primers (PCR-SSP), provide binary outcomes, limiting their clinical utility due to population-specific genetic variability, as exemplified by HLA-A*31:01-associated ADRs in Japanese and Caucasian populations. To address these limitations, we implemented nanopore sequencing, offering rapid turnaround times and comprehensive HLA genotyping, enabling a single test with lifetime utility. This innovation broadens drug coverage to include abacavir, dapsone, and oxcarbazepine, revolutionizing ADR prevention and improving patient safety. This presentation will share our journey, from overcoming initial challenges to successful implementation in real clinical settings in Thailand. We will share our vision to extend this transformative approach to other countries in Southeast Asia, demonstrating how long-read sequencing enhances population-independent PGx precision, making it accessible to anyone, anywhere, and contributing to a global standard for advancing precision medicine.