This session examines the persistent translational gap between genomic discovery and clinical deployment in low- and middle-income countries (LMICs), where infrastructure, regulatory pathways, and population-specific reference data often lag behind high-income settings. Drawing on real-world experience delivering pharmacogenomic and predictive genomic testing across diverse Southeast Asian populations, the session will discuss how GA4GH standards — including the Variation Representation Specification (VRS) for computable variant and genotype representation and emerging PGx data standardisation efforts — can be adapted to support interoperable, equitable clinical decision support where EHR infrastructure and reference databases are underdeveloped or Western-population-biased.

Topics will include: regulatory heterogeneity across LMIC markets (registration, IVD licensing, distribution models) as a barrier to scaling genomic tests; the need for population-diverse variant and allele-frequency data to make PGx calls clinically actionable outside majority-population cohorts; and practical models for translating discovery-stage genomic research into deployable clinical products through local distribution and healthcare partnerships.
The session aims to surface concrete implementation lessons — not just policy aspirations — for genomics stakeholders operating in resource-constrained, high-diversity settings, and to identify where GA4GH standards adoption could most reduce friction for LMIC-based diagnostic and pharmacogenomic providers.