Background

Efforts to elucidate human genetic diversity have advanced dramatically over the past few decades. However, the genomic information accumulated thus far has been largely biased towards individuals of European descent, exposing limitations in predicting and treating diseases in Asian and other ethnic groups. Applying Western genetic data directly to patients from different ethnic backgrounds has proven challenging. To address this issue, Singapore launched the National Precision Medicine (NPM) program in 2017.

This initiative aims to move beyond simply decoding genomic information and integrate it with clinical settings to realize personalized medicine. Experts emphasize that to maximize the effectiveness of precision medicine, it is necessary to establish a large-scale, multi-ethnic database and create institutional frameworks to integrate it into the healthcare system. The Singaporean government established the Precision Health Research, Singapore (PRECISE) under the Ministry of Health and implemented a long-term, government-wide plan.

Key Findings

The NPM program is systematically progressing based on a roadmap with three phases. The first phase (2017-2021) involved building a database of whole-genome sequencing (WGS) data for 10,000 Singaporeans, laying the foundation for understanding how genetic variations in major Asian ethnic groups (Chinese, Malay, and Indian) affect disease risk and drug response.

The second phase (2021-2025) achieved the decoding of genomes for more than 100,000 individuals, creating the world's largest multi-ethnic genomic database highlighting the unique genetic characteristics of Asians. Researchers analyzed the large-scale data to identify genetic variations that cause adverse drug reactions and to precisely track the frequency of variations that cause genetic heart disease or cancer.

The recently announced third-phase roadmap (2025-2031) envisions integrating the genomes, clinical data, and lifestyle data of approximately 500,000, or about 10% of Singapore's resident population, into the actual healthcare system. A key task is to link WGS results to the national electronic health record (EHR). With this system in place, healthcare professionals can access patient genetic information in real-time during consultations and provide personalized prescriptions. Specifically, the system will enable the implementation of a system that genetically pre-identifies a patient's drug metabolism ability to prevent the administration of drugs with a high risk of adverse reactions.

Significance and Prospects

Singapore's genomic project plays a role in complementing the representativeness of global precision medicine data, which is currently centered on individuals of European descent, by leveraging its characteristic as a multi-ethnic nation. This is because it can provide optimized genetic information for Asian populations. In particular, by integrating pharmacogenomic information into the prescription system, it is expected to reduce healthcare costs associated with adverse drug reactions and significantly improve patient safety.

However, there are several challenges that need to be addressed before large-scale data can be applied to actual medical practice. A robust security system to prevent genetic information leakage and legal and institutional reforms to prevent genetic discrimination must be implemented. Furthermore, there is a need for computing infrastructure to process vast amounts of data in real-time and for expanding education programs for healthcare professionals. PRECISE plans to simultaneously promote technology standardization and regulatory easing to support the establishment of genomic data as a standard for routine treatment. This will also contribute to the vision of becoming a hub for Asian precision medicine.