Professor Joanne Ngeow shared Singapore’s experience in building population genomics evidence and translating it into cancer prevention, clinical services and national reimbursement.

Singapore’s National Precision Medicine Program began by sequencing 10,000 people, has now completed sequencing of 100,000 Singaporeans and is commencing recruitment toward 500,000. Early findings suggest that approximately 4% of the population carries an actionable pathogenic or likely pathogenic variant. The program has also identified important differences across Singapore’s Chinese, Malay and South Asian populations, reinforcing the value of generating genomic evidence that represents Asian populations rather than relying predominantly on European-derived datasets.

Professor Ngeow emphasised that population sequencing alone does not improve health outcomes. Singapore’s clinical data have been critical in identifying gaps in testing and care. For example, a review of more than two million electronic medical records found that approximately 85% of people who met testing criteria for Lynch syndrome had not been referred to genetics services.

Financial barriers were found to be the main reason people did not proceed with testing. People generally understood the value of testing and wanted to undertake it, but many could not afford to do so. This evidence helped challenge the assumption that there was limited public demand and contributed to Singapore introducing national subsidies for genomic testing and risk management.

Other key insights included:

• People who learned they had an elevated genetic risk demonstrated substantially higher adherence to recommended screening, approximately 60–80%, compared with 30–40% in the general population.
• Variant reclassification must be treated as an ongoing clinical responsibility. Among patients successfully recalled following reclassification, 31 had changes made to their management, including access to appropriate surgery or treatment.
• Variant interpretation tools may perform differently across populations. Approaches that depend heavily on population reference data can be less reliable for people from ancestries that remain underrepresented in genomic datasets.
• Cancer risk is influenced by more than genetic ancestry. Lifestyle, reproductive history and environment may help explain differences between genetically similar populations living in Singapore, Malaysia, the United Kingdom and the United States.
• Cascade testing rates in Singapore have historically been low, at approximately 10–15%. Modelling suggested that increasing uptake to around 30% could make the program cost-neutral, and a direct-contact intervention approximately doubled testing uptake.
• Genetic counsellors will be essential to delivering genomics at scale, including through counsellor-led models of care, research, education and targeted testing.
• Implementation requires cooperation across primary care, hospital services, finance and policy. Singapore established a precision health working group to overcome organisational divisions and support system-wide adoption.

A particularly important lesson for Australia was the balance between sequencing and implementation. Around 90% of Singapore’s initial program funding was directed to sequencing and only 10% to clinical workflow and implementation. In the second phase, 10–15% was deliberately allocated to focused clinical implementation pilots. Although modest, this investment generated the evidence needed to support national reimbursement.

Professor Ngeow’s advice was pragmatic: countries cannot implement everything at once. They should select a small number of nationally important priorities, fund the clinical implementation and evaluation needed to demonstrate impact, and use those early successes to create momentum for broader adoption.

Australia’s population genomics investments should not be assessed only by the number of genomes sequenced or datasets created. Dedicated funding is needed for clinical pathways, workforce, variant interpretation and reclassification, evaluation, patient follow-up and equitable access. As Professor Ngeow observed, even a relatively small allocation to implementation can have a major influence on policy and reimbursement.