National Precision Medicine (NPM) is a 10-year national programme with the vision to transform health in Singapore through precision medicine. Led by Precision Health Research (PRECISE), it is a whole of government effort to implement data-driven healthcare and improve patient outcomes at the national level (https://www.npm.sg/).
Genetic variation plays an important role in common human diseases and complex traits variability. Technological advances have enabled us to interrogate the human genome for disease susceptibility loci. Global efforts to map disease susceptibility loci have shown that many of these disease implicated variants are shared across populations. At the same time, some of these variants have shown population-specific characteristics. Furthermore, emerging omics methodologies and technologies have enabled high-resolution profiling of the epigenome (methylation), metabolome, and proteome.
These omics reflect a combination of genetic and environmental influences that provide a snapshot to an individual’s current state of health. The differences in genetic history and environmental exposures highlight the importance of performing these omics measurements in diverse populations.
In NPM Phase I, whole genome sequencing and epigenomic profiling were performed in 10,000 individuals in Singapore. NPM Phase II aimed to perform whole genome sequencing and epigenome profiling in 100,000 individuals in Singapore.
By combining genetic, lifestyle, clinical data, and other molecular biomarkers, NPM aim to (i) understand how these factors act individually and/or jointly to impact health or contribute to disease and (ii) generate findings and pathways to improve the efficiency and effectiveness of disease prevention, diagnosis and treatment.
SPHS will contribute up to 50,000 healthy participants with consent for genetic research, commercial research, record linkage, and recontact for future studies to NPM.
NPM Phase 1 has been published here.