“Filling the gap with long-read sequencing: lessons from Genomics Thailand” is the title of the London Calling session I watched tonight. The speaker was Manop Pithukpakorn from Siriraj Genomics at Mahidol University in Thailand. They spoke about the similarities of the program and Genomics England. The aim of Genomics Thailand is to implement genomics medicine in Thailand. Their goal is to facilitate research and application as well as provide a clinical service. The Genomics Thailand team did targeted sequencing and whole genome sequencing. The team analyzed data with metrics from clinical treatments. The goal was to use results to implement tests in the national health program. Genomics Thailand collected data from thousands of genomes, with the majority of cases related to cancer. For example, 5,448 cases with suspicion of hereditary cancer were analyzed by sequencing identifying pathogenic/likely pathogenic variants in 16%. Pithukpakorn explained the results of select cases and how long-read sequencing results helped identify genetic disorders. In another case, a gene duplication was analyzed to learn about potential pathogenic variants associated with breast cancer. The team at Genomics Thailand used adaptive sampling to sequence over select regions and learn about potentially pathogenic variants. Pithukpakorn concluded that the transition the “transition of genomics from pure research to clinical implementation means that the ability to identify causative mutations is crucial for clinical decision.” They added that the long-read sequencing can help identifying disease-causing variants and improve the accuracy of variant calling in situations in which short read sequencing is unable to detect copy number variation, for example. Finally, their goal is to expand the use of Oxford Nanopore Technologies as part of the efforts of Genomics Thailand. This and other sessions have helped me learn about the potential for variant detection and sequencing of challenging genomic regions with long-read sequencing.
