Authors: Vincentius Simeon Weo Budhyanto , Stefanie Jürgens , Jonas Korlach , Cindy Oktavi Cicilia , Zuhrah Taufiqa

Abstract

Background: Southeast Asia's approximately 700 million people contribute only a small fraction of the data underpinning global genomic reference resources. The clinical consequences are elevated rates of variants of uncertain significance, polygenic risk scores that transfer poorly across ancestries, and screening calibrated to non-representative populations. The equity case is established; the operational case is not.

Methods: We searched PubMed/MEDLINE, ScienceDirect and Google Scholar from 1 January 2010 to 31 March 2026, with a targeted documentation update on 5 August 2026. Sequencing requirements were modeled by applying phased clinical penetration rates to demographic and epidemiological denominators, with instrument counts derived at 70% utilization. Every input and formula is published as a supplementary workbook, and outputs are bounded by sensitivity analysis.

Results: Capacity is profoundly uneven, from more than 50,000 completed genomes in Singapore to none in Timor-Leste. The eleven member states record approximately 10.6 million annual births and 1.15 million incident cancers. At maturity the base case yields approximately 46.0 petabases annually (23.0-56.8 across scenarios), requiring approximately 42 short-read instruments (23 throughput-derived, 7 buffer, 12 mid-throughput) and a mixed long-read fleet of approximately 22. Modeled fifteen-year infrastructure investment is US$733 million (US$644 million to US$1.0 billion), or US$0.07 per capita annually, excluding recurrent testing at US$5.3-12.2 per capita annually.

Conclusion: Long-read sequencing is a required regional capability for structurally complex loci, alongside validated targeted assays. Specialist workforce, not hardware, is the most acute constraint identified where data exist. We propose a federated hub-and-spoke architecture aligned to the proposed ASEAN Genome Consortium.

Keywords: Genomic medicine, Southeast Asia, Pharmacogenomics, Long-read sequencing, Health systems.