Singapore completes new genetic data bank to better diagnose genetic disease

Pauline Wong

SINGAPORE (Oct 18): A new genetic databank – the largest and first in the world on Asian populations – has been completed in a study of close to 5,000 Singaporeans.

The whole-genome sequencing (WGS) data of 2,780 Chinese, 903 Malays, and 1,127 Indians has resulted in the first-of-its-kind study, which will provide valuable insights on the unique genetic diversity of Asian populations. This study will enable more accurate diagnosis of genetic diseases, empower the research of chronic diseases and guide prevention and targeted therapies.

The study, published on Oct 17, was a collaboration among scientists and clinicians from several institutions in Singapore. These include A*STAR’s Genome Institute of Singapore (GIS), National University Health System (NUHS), Singapore Eye Research Institute (SERI), Tan Tock Seng Hospital (TTSH), National Neuroscience Institute (NNI), Khoo Teck Puat Hospital (KTPH), National University Hospital (NUH), SingHealth Duke-NUS Institute of Precision Medicine (PRISM), National University of Singapore (NUS) and Singapore General Hospital (SGH).

The WGS of Asian populations are, up to this point, not extensively studied and their genetic make-up is yet to be fully understood. This leads to a lack of understanding in how genetic variations can contribute to an individual’s susceptibility to disease and response to treatments, which hinders efforts to discover disease-associated genes in Asians. 

The study significantly identified 98.3 million genetic variants across the Singapore genomes. Of these, more than half have not been previously reported in public databases, which to date have focused on Western and European populations.

It also identified 20 candidate loci for natural selection, where genome sequences were altered as a result of survival and adaptation to local environments during human evolution. Fourteen loci were found to be associated with human traits and diseases, which may explain why certain diseases and human traits, such as ALDH2 deficiency (Asian Flush), are more or less common in Asians.

Professor Liu Jianjun, Deputy Executive Director at GIS and Professor at Yong Loo Lin School of Medicine, NUS, says: “The study provides comprehensive genetic information and resources on both local Singapore and Asian populations. This will empower research that will help us understand the inherited basis of diseases in Asian populations, that could result in the development of new treatments and ways to predict and diagnose diseases.”

Professor Patrick Tan, Executive Director at GIS, Director at PRISM, and Professor at Duke-NUS Medical School, says: “The project provides a pilot genetic map of Asian populations that allows us to measure precisely the genetic contribution to disease, and combine it with other sources of data within a data-driven healthcare system"

Tan adds that potentially, this will provide insights to prevent disease before it occurs, diagnose disease earlier, and ensure that therapies are deployed in a way that maximises clinical benefits while minimising adverse effects.