PhenomeSK

PhenomeSK is a flagship precision medicine initiative designed for Sarawak, aimed at building world-class genomic and metabolomic research infrastructure that captures the rich genetic diversity of its people. Our core objectives are to:

• Establish a sustainable long-read genomics platform leveraging PacBio and Oxford Nanopore Technologies to generate high-resolution genomic data for Sarawak’s diverse ethnic communities
• Integrate Nuclear Magnetic Resonance (NMR) metabolomics to deliver a multi-omic understanding of health and disease
• Create a reference dataset of genomic variation representative of Sarawak’s unique and underrepresented ethnic populations
• Build local scientific and clinical capacity in genomics, bioinformatics, and precision medicine
• Translate research findings into actionable clinical insights that improve health outcomes for the people of Sarawak

Sarawak is home to one of the most ethnically and genetically diverse populations in Southeast Asia, yet this diversity is profoundly underrepresented in global genomic databases. Most precision medicine tools and clinical guidelines in use today have been developed using data that does not reflect this population, creating a significant gap in the quality and relevance of healthcare that Sarawakians receive.

PhenomeSK exists to close that gap.

By generating high-quality, long-read genomic data from Sarawak’s communities, we can uncover genetic variants, including structural variants invisible to short-read sequencing, that are uniquely relevant to local disease risk, drug response, and health trajectories. Paired with NMR metabolomics, PhenomeSK enables a deeper, more complete picture of how genes interact with lifestyle and environment to shape health outcomes.

Beyond the science, PhenomeSK is an investment in people. It creates the skilled workforce, infrastructure, and institutional knowledge needed to sustain precision medicine in Sarawak for generations to come, ensuring that the benefits of genomic medicine are not imported, but grown here.

PhenomeSK is built on three integrated pillars:

Long-Read Genomics Utilising the PacBio Revio and Oxford Nanopore Technologies PromethION P2 Solo platforms, we generate highly accurate, long-read whole genome sequences capable of resolving complex structural variants, repetitive regions, and phased haplotypes that short-read technologies routinely miss. This positions Sarawak at the forefront of next-generation sequencing capability. Using Illumina’s Asian Diversity Array, purpose-built to capture genetic variation across Asian populations, PhenomeSK will be used to create a foundational dataset that supports population structure analysis, disease association studies, and the development of locally relevant polygenic risk scores.

NMR Metabolomics Nuclear Magnetic Resonance spectroscopy provides a powerful, untargeted view of the human metabolome. By profiling small molecules in biological samples, we capture the downstream functional signatures of genetic variation, diet, and environment — enabling a truly integrated multi-omic research framework.

Capacity Building & Training PhenomeSK is as much about people as it is about platforms. The programme actively trains the next generation of genomic scientists, bioinformaticians, and clinical researchers in Sarawak, establishing a self-sustaining ecosystem of precision medicine expertise.

PhenomeSK is being deployed in a structured, phased approach to ensure robust capability at each stage of growth.