Implementation of ONT sequencing in an accredited diagnostic service | APAC Health Summit 2026

Abstract
Clinical adoption of long-read sequencing has historically been limited by bespoke workflows and accreditation challenges. Here, Professor Lunke shares his experience of translating Oxford Nanopore long-read whole genome sequencing (lrWGS) and adaptive sampling into an accredited diagnostic service.

lrWGS was benchmarked against accredited short-read sequencing using gold-standard controls and diverse clinical samples, demonstrating equivalent or improved performance across most variant categories, with robust results from both fresh and archival DNA processed via standard high-throughput methods. Adaptive Sampling enabled accurate detection and sizing of repeat expansion disorders across complex diagnostic cases, achieving >99% pathogenicity assignment accuracy. This implementation confirms that — once validated by a laboratory — Oxford Nanopore sequencing could potentially be deployed clinically without specialized DNA extraction, unifying multiple genomic assays — WGS, CNV, methylation, and targeted panels — on a single platform. These advances promise broader diagnostic reach, improved resolution of complex genomic regions, and streamlined laboratory workflows.

Biography
Professor Sebastian Lunke is a Certified Clinical Scientist, Executive General Manager for Innovation in Genomics, and the Head of Division of Molecular Genomics at the Victorian Clinical Genetics Services in Melbourne. His team at VCGS constitutes one of the largest clinically accredited genomics laboratories in Australia, with a strong focus on translating novel technologies into clinical practise. He is also a co-lead of the Translational Genomics Research Group at the Murdoch Children’s Research Institute, and current president of the Human Genetics Society of Australasia (HGSA).