APAC Health Summit 2026
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Crossing the chasm: from genomic insight to clinical impact
One Farrer Hotel Singapore, 27 September 2026
About the event — the Oxford Nanopore APAC Health Summit is an invitation-only meeting bringing together leaders from clinical genomics, healthcare, policy, and translational research to explore how genomics can move from insight to real-world healthcare impact across the region.
What to expect — Across a focused one-day programme of plenary sessions, panel discussions, roundtables, and networking, the summit will examine the opportunities and challenges involved in advancing clinical genomics, from diagnostic pathways and implementation models to health economics, screening, and prevention.
Summit theme — Under the theme “Crossing the chasm: from genomic insight to clinical impact,” the event is designed to spark discussion around how genomic technologies may support future healthcare strategies and evidence generation.
Please note that this is an in-person event by invitation only. To enquire about attendance please contact events@nanoporetech.com.
Time | Theme | Presenters |
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09:30 - 10:00 | Registration, networking & breakfast | |
10:00 - 10:15 | Welcome from Oxford Nanopore | Francis Van Paris, Oxford Nanopore Technologies |
10:15 - 10:45 | Opening plenary - Crossing the chasm to clinical genomics | Richard Scott, Genomics England |
10:45 - 11:55 | Session 1 - From incremental testing to comprehensive answers | |
10:24 - 11:00 | Coming soon | Brian Chung, Hong Kong Genome Institute (HKGI) |
11:00 - 11:15 | SV-focused long read analysis in neurological disorders | Naomichi Matsumoto, Yokohama City University |
11:15 - 11:30 | Rapid diagnostics in aggressive haematological malignancy | Piers Blomberry, Peter MacCallum Cancer Centre |
11:30 - 11:55 | Panel discussion | Brian Chung, Hong Kong Genome Institute (HKGI) Naomichi Matsumoto, Yokohama City University Piers Blomberry, Peter MacCallum Cancer Centre Ni-Chung Lee, National Taiwan University Hospital Panel Moderator: David Thomas, Centre for Molecular Oncology, UNSW |
11:55 - 13:30 | Lunch break & networking | |
13:30 - 14:40 | Session 2 - Implementation without friction | |
13:30 - 13:45 | Coming soon | Sebastian Lunke, Victorian Clinical Genetics Services (VCGS) |
13:45 - 14:00 | Nanopore translation: the replacement genomic technology | Tony Roscioli, NSW Health Pathology Randwick Genomics |
14:00 - 14:15 | Coming soon | Joanne Ngeow, Lee Kong Chian School of Medicine |
14:!5 - 14:40 | Panel discussion | Sebastian Lunke, Victorian Clinical Genetics Services (VCGS) Tony Roscioli, NSW Health Pathology Randwick Genomics Joanne Ngeow, Lee Kong Chian School of Medicine Motohiro Kato, University of Tokyo Panel Moderator: Matt Brown, King’s College London |
14:40 - 15:10 | Break & networking | |
15:10 - 16:20 | Session 3 - From discovery to prevention | |
15:10 - 15:35 | Coming soon | Daniel AmcArthur, Garvan and Australia Centre for Population Genomics |
15:35 - 15:50 | Scaling pangenomics in Asia: from population diversity to high-quality X-omic reference frameworks | Shuhua Xu, Fudan University |
15:50 - 16:05 | Transgenerational genomic effects of atomic bomb radiation exposure revealed by whole-genome sequencing and De Novo mutation profiling in a Korean survivor cohort | Jin-Wu Nam, Hanyang University |
16:05 - 16:20 | Panel discussion | Daniel AmcArthur, Garvan and Australia Centre for Population Genomics Shuhua Xu, Fudan University Jin-Wu Nam, Hanyang University Dorothy Keefe, Cancer Australia Panel Moderator: Tiffany Boughtwood, Genomics Australia |
16:20 - 16:50 | Closing plenary | Oxford Nanopore Technologies |
17:00 - 19:00 | Networking reception |
Important note — Oxford Nanopore products are for research use only and not for use in diagnostic procedures. Discussions at this event will focus on research, translational experience, and the broader clinical genomics landscape.
Confirmed presenters
Plenary speakers
Genomics England is a government‑owned company, working in close partnership with the NHS to embed genomics in routine care at national scale and support research and innovation across the UK. Professor Scott will describe the organisation's work with Oxford Nanopore in areas spanning cancer diagnostics to discovery in rare disease and newborn sequencing.
Genomics England is a government‑owned company, working in close partnership with the NHS to embed genomics in routine care at national scale and support research and innovation across the UK. Professor Scott will describe the organisation's work with Oxford Nanopore in areas spanning cancer diagnostics to discovery in rare disease and newborn sequencing.
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Richard Scott, Genomics EnglandExome sequencing (ES) has been widely used to identify the genetic causes of human neurological disorders ranging from childhood to adulthood;however, its diagnostic yield remains approximately 30–40%. Additional short-read genome sequencing (srGS) analyses for the remaining unsolved 60–70% of cases can identify pathogenic genetic abnormalities in approximately 21% of patients, although only about 9% harbor causative variants uniquely detectable by srGS (npj Genomic Medicine, 2025). In other words, more than half of the pathogenic variants identified by srGS could theoretically have been detected by ES. Our laboratory has been conducting long-read genome sequencing (lrGS) analyses for genetically unresolved neurological disorders. In this presentation, we will describe analytical approaches focusing on structural variants (SVs) using lrGS and discuss the extent to which these approaches contribute to solving previously undiagnosed neurological disease cases.
Exome sequencing (ES) has been widely used to identify the genetic causes of human neurological disorders ranging from childhood to adulthood;however, its diagnostic yield remains approximately 30–40%. Additional short-read genome sequencing (srGS) analyses for the remaining unsolved 60–70% of cases can identify pathogenic genetic abnormalities in approximately 21% of patients, although only about 9% harbor causative variants uniquely detectable by srGS (npj Genomic Medicine, 2025). In other words, more than half of the pathogenic variants identified by srGS could theoretically have been detected by ES. Our laboratory has been conducting long-read genome sequencing (lrGS) analyses for genetically unresolved neurological disorders. In this presentation, we will describe analytical approaches focusing on structural variants (SVs) using lrGS and discuss the extent to which these approaches contribute to solving previously undiagnosed neurological disease cases.
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Naomichi Matsumoto, Yokohama City UniversityAggressive blood cancers such as acute leukaemia can present with life-threatening clinical consequences. Whilst urgent therapy is required - an accurate diagnosis must first be established. Molecular characterisation of acute leukaemia increasingly underpins choice of effective frontline therapy in acute leukaemia however these approaches can often take days to weeks for results. This presentation will cover our approach to using Oxford Nanopore Technology to perform ultra-rapid molecular subclassification of acute leukaemia to improve patient outcomes for both adult and paediatric presentations.
Aggressive blood cancers such as acute leukaemia can present with life-threatening clinical consequences. Whilst urgent therapy is required - an accurate diagnosis must first be established. Molecular characterisation of acute leukaemia increasingly underpins choice of effective frontline therapy in acute leukaemia however these approaches can often take days to weeks for results. This presentation will cover our approach to using Oxford Nanopore Technology to perform ultra-rapid molecular subclassification of acute leukaemia to improve patient outcomes for both adult and paediatric presentations.
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Piers Blombery, Peter MacCallum Cancer Centre)
Sebastian Lunke, Victorian Clinical Genetics Services (VCGS)I am a clinical genomicist and geneticist at NSW Health Pathology Randwick Genomics and Group Leader, Neurogenomics at NeuRA. My clinical and research career bridges paediatric medicine, human genetics, and translational genomics, with emphasis on gene identification, variant interpretation, and diagnostic panel design. My international work at Radboud University Nijmegen was pivotal in establishing high-yield gene discovery pipelines, identifying multiple genes in intellectual disability (ID) and neuronal migration disorders. I have since led programs in Mendelian gene discovery (>40 novel genes, including Nature Genetics, Cell, and Nature Communications publications), bioinformatic/AI pipelines for next-generation sequencing, and national clinical translation projects such as the MRFF PreGen initiative, which implemented prenatal genomic testing across Australia. My research productivity includes 167 publications (>6,500 citations, h-index 40), with key outputs that have shifted paradigms in genetic diagnosis and clinical practice. My expertise in gene discovery, bioinformatics, and health economics directly aligns with AI-enabled gene panel selection and clinical translation. My current work is in the translation of episignatures and Oxford Nanopore long read sequencing into clinical diagnostics.
Short-read sequencing has limited diagnostic utility for phasing variants, analysing genomic regions with high homology, identifying structural variants or resolving gene expansions. Nanopore long-read sequencing technology is able to overcome these limitations through the analysis of long sequences and haplotypes. Data from a validation study to implement clinical diagnostic Nanopore long read sequencing is presented with a robust, end-to-end genomic bioinformatic workflow and examples of results that provided diagnoses for patients after clinical implementation.
Short-read sequencing has limited diagnostic utility for phasing variants, analysing genomic regions with high homology, identifying structural variants or resolving gene expansions. Nanopore long-read sequencing technology is able to overcome these limitations through the analysis of long sequences and haplotypes. Data from a validation study to implement clinical diagnostic Nanopore long read sequencing is presented with a robust, end-to-end genomic bioinformatic workflow and examples of results that provided diagnoses for patients after clinical implementation.
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Tony Roscioli, NSW Health Pathology Randwick Genomics)
Joanne Ngeow, Lee Kong Chian School of MedicineDr Joanne Ngeow, BMedSci, MBBS, FRCP, MPH is Senior Consultant, Division of Medical Oncology at the National Cancer Centre Singapore and Associate Professor (Genomic Medicine) at the Lee Kong Chian School of Medicine, Nanyang Technological University Singapore. After completing her undergraduate medical school at the University of Melbourne Australia, she returned to Singapore to complete her internal medicine and medical oncology training at the National Cancer Centre Singapore, SingHealth. She was awarded consecutive awards to complete a Cancer Genomic Medicine Fellowship (2010-2014) at the Cleveland Clinic, Ohio USA mentored by Professor Charis Eng. Concurrent with her fellowship, she completed her Master of Public Health at Johns Hopkins Bloomberg School of Public Health with a major in Health Finance making her one of few clinically cancer geneticists with formal training at the bench, bedside and in health economics globally. Dr Ngeow currently heads the Cancer Genetics Service at the National Cancer Centre Singapore with an academic clinical interest in hereditary cancer syndromes and translational clinical cancer genetics. Dr Ngeow is funded by the National Medical Research Council Clinician Scientist Award to explore how gene-environmental/ lifestyle interactions predisposes to cancer initiation and progression and the equitable implementation of genomics into routine clinical care. Dr Ngeow is one of the Principal Investigators of the Health for Life in Singapore Study (HELIOS), a state-of-the-art multi-ethnic population cohort study based at Nanyang Technological University Dr Ngeow is one of a handful of formally trained clinical cancer geneticists at both the bench and bedside.. Dr Ngeow currently is the incoming Chair-Elect of International Society for Hereditary Gastrointestinal Tumors (InSiGHT) and serves on several National Institutes of Health (NIH) ClinGen Expert Panels. She is a Senior Atlantic Fellow and Equity Initiative Fellow for Health Equity in South East Asia.
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Daniel MacArthur, Garvan and Australia Centre for Population GenomicsProfessor Daniel MacArthur is the Director of the Centre for Population Genomics, established to solve the critical scientific, regulatory, and technical problems currently limiting the development of genomic medicine in Australia, and execute large-scale projects that will establish Australia’s leadership in this field.
Daniel previously served as Co-Director of the Medical and Population Genetics Program at the Broad Institute of MIT and Harvard, and headed up a team jointly based at the Broad Institute, Massachusetts General Hospital, and Harvard Medical School. He co-directed the Broad Institute's Centre for Mendelian Genomics, which has sequenced and analysed genomic data from over 10,000 individuals from rare disease families and contributed to the discovery of more than 100 new rare disease genes.
He also led the development of the Genome Aggregation Database (gnomAD), the largest and most widely-used data set of human exome and genome sequence data, which has collated data from over 140,000 sequenced individuals.
A fundamental challenge in human genomics is the development of reference frameworks that accurately represent population diversity and capture the full spectrum of genetic and regulatory variation. Many existing resources remain limited by ancestry bias and linear representations, constraining basic research into human evolution, population structure, and genotype–phenotype relationships. In this talk, I will describe how large-scale pangenomic initiatives in Asia are addressing these challenges by scaling from national to continental efforts. I will first present advances from the Chinese Population Pangenome Consortium (CPC) Phase II, which has generated population-representative, long-read–based reference resources across diverse Chinese populations. These data substantially improve the resolution of structural variation, complex genomic regions, and haplotype diversity, enabling refined inference of population structure, demographic history, and signals of local adaptation. By moving beyond single-reference models, CPC provides a more accurate substrate for comparative and evolutionary genomic analyses. Building on this foundation, the Asian Population Pangenome Consortium (APC) extends the pangenomic framework across Asia through coordinated international collaboration and federated data governance. APC aims to construct high-quality X-omic reference resources that integrate genome sequence with additional regulatory and functional layers, enabling systematic investigation of how genetic and regulatory variation are distributed across populations. I will discuss how scaling pangenomics from CPC to APC advances core questions in population genetics and human evolutionary biology, while establishing a rigorous and inclusive reference foundation upon which future biomedical and global health applications can be built.
A fundamental challenge in human genomics is the development of reference frameworks that accurately represent population diversity and capture the full spectrum of genetic and regulatory variation. Many existing resources remain limited by ancestry bias and linear representations, constraining basic research into human evolution, population structure, and genotype–phenotype relationships. In this talk, I will describe how large-scale pangenomic initiatives in Asia are addressing these challenges by scaling from national to continental efforts. I will first present advances from the Chinese Population Pangenome Consortium (CPC) Phase II, which has generated population-representative, long-read–based reference resources across diverse Chinese populations. These data substantially improve the resolution of structural variation, complex genomic regions, and haplotype diversity, enabling refined inference of population structure, demographic history, and signals of local adaptation. By moving beyond single-reference models, CPC provides a more accurate substrate for comparative and evolutionary genomic analyses. Building on this foundation, the Asian Population Pangenome Consortium (APC) extends the pangenomic framework across Asia through coordinated international collaboration and federated data governance. APC aims to construct high-quality X-omic reference resources that integrate genome sequence with additional regulatory and functional layers, enabling systematic investigation of how genetic and regulatory variation are distributed across populations. I will discuss how scaling pangenomics from CPC to APC advances core questions in population genetics and human evolutionary biology, while establishing a rigorous and inclusive reference foundation upon which future biomedical and global health applications can be built.
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Shuhua Xu, Fudan University The long-term hereditary consequences of ionizing radiation on the human germline remain a central question in radiation biology, yet prior studies of atomic bomb survivors have lacked the statistical power and genomic resolution to detect heritable genetic damage conclusively. Here we present a large-scale whole-genome sequencing (WGS) study of Korean atomic bomb survivor (K-ABS) families spanning three generations, including directly exposed first-generation survivors, their offspring, and grandchildren. To enable de novo mutation (DNM) detection in families lacking complete parent–offspring trios, we developed an incomplete trio pipeline that infers callable genomic regions from sibling identity-by-descent segments and applies platform-specific and cohort-level filters to minimize false positives, with calls validated by orthogonal sequencing approaches. Offspring of survivors exposed at closer distances to the hypocenter show a significantly elevated per-generation DNM burden, consistent with a radiation dose-dependent increase in germline mutation rate. Among likely damaging DNMs identified in offspring, a subset maps to genes with established disease associations, suggesting potential clinical relevance of radiation-induced germline variants. These findings provide the first WGS-scale evidence of heritable genomic instability in offspring of atomic bomb survivors and establish a broadly applicable computational framework for multi-generational DNM analysis in cohorts with incomplete familial sampling.
The long-term hereditary consequences of ionizing radiation on the human germline remain a central question in radiation biology, yet prior studies of atomic bomb survivors have lacked the statistical power and genomic resolution to detect heritable genetic damage conclusively. Here we present a large-scale whole-genome sequencing (WGS) study of Korean atomic bomb survivor (K-ABS) families spanning three generations, including directly exposed first-generation survivors, their offspring, and grandchildren. To enable de novo mutation (DNM) detection in families lacking complete parent–offspring trios, we developed an incomplete trio pipeline that infers callable genomic regions from sibling identity-by-descent segments and applies platform-specific and cohort-level filters to minimize false positives, with calls validated by orthogonal sequencing approaches. Offspring of survivors exposed at closer distances to the hypocenter show a significantly elevated per-generation DNM burden, consistent with a radiation dose-dependent increase in germline mutation rate. Among likely damaging DNMs identified in offspring, a subset maps to genes with established disease associations, suggesting potential clinical relevance of radiation-induced germline variants. These findings provide the first WGS-scale evidence of heritable genomic instability in offspring of atomic bomb survivors and establish a broadly applicable computational framework for multi-generational DNM analysis in cohorts with incomplete familial sampling.
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Jin-Wu Nam , Hanyang University
Panelists
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Ni-Chung Lee, National Taiwan University HospitalI am a Pediatrician and a specialist in clinical genetics. I am the Clinical Professor at National Taiwan University Hospital and National Taiwan University Children’s Hospital. I have been interested in the molecular diagnosis for rare inherited metabolic diseases and congenital malformations. My research includes the developing gene therapy for rare genetic disorders and molecular diagnosis for rare Genetic syndromes using next generation sequencing and long read sequencing.
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Motohiro Kato, University of TokyoMotohiro Kato, M.D., Ph.D., is a physician-scientist specializing in pediatric leukemia, stem cell transplantation, and genomic medicine. His work integrates clinical expertise with genomic research to improve the diagnosis, risk stratification, and treatment of childhood hematologic malignancies. He has led major clinical and translational studies and authored more than 240 scientific publications.
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Dorothy Keefe, Cancer AustraliaProfessor Keefe is CEO of Cancer Australia, Australia’s national cancer agency. She is a medical oncologist experienced in clinical medicine, cancer research, health policy and system reform. She provides national leadership in cancer control and advises Government on strategies to improve outcomes, reduce inequities and strengthen evidence-based, patient-centred cancer care. Professor Keefe has held senior leadership roles across government, health services and academia. She is an internationally recognised authority in cancer supportive care, with extensive experience in clinical guideline development and translational research. She is the current Chair of the Governing Council of the International Agency for Research on Cancer.
Panel chairs
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David Thomas, Centre for Molecular Oncology, UNSWProf David Thomas is the inaugural Director of the Centre for Molecular Oncology at the University of New South Wales and Chief Strategy and Science Officer at Omico. As a clinician-scientist, his focus is on the application of genomic technologies to the understanding and management of cancer, particularly sarcoma. He established the not-for-profit company, Australian Genomic Cancer Medicine Centre, trading as Omico, to lead a national precision medicine program for patients with rare and early onset cancers. He has over 200 research publications, including lead or senior author papers in Science.
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Matt Brown , King's College London Matt Brown is a clinician-scientist who trained initially in medicine and rheumatology in Sydney, Australia before completing a Doctorate of Medicine based at University of Oxford, focusing on genetics of ankylosing spondylitis. In 2013 he was elected to Fellowship of the Australian Academy of Sciences in recognition for his achievements in genetics research. From 2021-26 he was Chief Scientific Officer of Genomics England, and is now Professor of Medicine at King’s College London. He continues to work in genetics of human diseases, with a particular focus on common and rare bone and joint diseases, and in cancer genomics and personalized medicine. He continues to practice rheumatology, with a particular focus on spondyloarthritis.
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Tiffany Boughtwood, Genomics Australia Tiffany Boughtwood is the inaugural Australian Health Genomics Commissioner, guiding the work of Genomics Australia and providing advice to Government based on broad engagement with the genomics sector and community.
Tiffany has 30 years’ experience in molecular biology and management: leading academic and diagnostic genomic programs; collaborating internationally in genomic research; and consulting in health genomic implementation.
She was the Managing Director of Australian Genomics, a national collaborative supporting genomic research and its translation into clinical practice. She served on the World Economic Forum Global Future Council for Biotechnology and the WHO Collective Global Network for Rare Disease. Tiffany is a member of the WHO Technical Advisory Group on Genomics, is on the Strategic Leadership Committee for the Global Alliance for Genomics and Health, and is an International Advisor to the MyGenom Project Malaysia.
