"The progress of precision medicine has long been hampered by a troubling reality: the overwhelming majority of genomic data comes from people of European descent. This data imbalance means that the predictive tools and medical insights derived from these studies are often less accurate for the rest of the world's population. Two landmark papers in Nature by researchers in Taiwan directly confront this disparity, detailing the creation and first major application of the Taiwan Precision Medicine Initiative (TPMI). Together, they represent an important step forward in making precision medicine a truly global reality.

The first paper, "The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies," introduces the foundation of this research: a massive biobank of over 565,000 Taiwanese participants. As a large-scale, non-European cohort composed overwhelmingly of individuals of Han Chinese ancestry, it aims to fill a critical gap in global genetic research. Unlike many other biobanks, TPMI links genetic profiles to participants' longitudinal healthcare visit data, capturing health data from five years prior to enrollment and into the future. This structure transforms the dataset from a static snapshot into a dynamic resource for tracking disease progression over time. For the general public, this means that for the first time, health predictions and medical research for one-fifth of the world's population can be based on data from a genetically similar group, leading to more accurate risk assessments and culturally relevant health strategies.

The second paper, "Population-specific polygenic risk scores for people of Han Chinese ancestry," demonstrates the further value of this new resource. The authors used the TPMI cohort to develop and validate polygenic risk scores (PRS), the tools that calculate a person's genetic risk for specific diseases. The study illustrates that PRS models developed using the TPMI data consistently outperformed those derived from European cohorts when applied to people of East Asian ancestry. The application of this database is profound both domestically and internationally. In Taiwan, these population-specific PRS can be integrated into the healthcare system to identify individuals at high risk for conditions like type 2 diabetes, hypertension, and even infectious diseases like hepatitis B, enabling targeted prevention and earlier intervention. Internationally, the TPMI serves as a vital reference for genetic studies involving East Asian populations worldwide and provides a template for creating similar resources for other underrepresented groups. A key differentiator from other biobanks is its ability to uncover novel genetic associations for diseases particularly prevalent in the region, such as the new loci identified for hepatitis B, a progress impossible in European cohorts where the disease is rare.

Despite its strengths, the TPMI cohort has limitations. As the authors acknowledge, its hospital-based recruitment may lead to ascertainment bias, meaning the cohort may not perfectly represent the general population and might over-represent individuals with chronic conditions. Furthermore, the healthcare visit data only captures records from the enrolling hospital system, potentially missing crucial information from other clinics or care providers a participant may have visited. Finally, the current genetic data is based on SNP arrays, which are less effective at capturing rare genetic variants that may also contribute to disease risk. Overall, these two studies mark a pivotal moment for genomic science. They not only provide an invaluable resource for understanding the health of Han Chinese populations in Taiwan but also lay out a clear blueprint for building a more equitable and effective era of global precision medicine."

"These two papers comprehensively present the research framework and practical achievements of the Taiwan Precision Medicine Initiative (TPMI). The TPMI has recruited more than 500,000 Taiwanese participants, integrating electronic medical records (EMRs) and genetic data from 16 medical centers across Taiwan to establish a comprehensive database that combines genomic and clinical information. It has become one of the largest precision medicine research platforms in Asia.

The onset of disease is often the result of interactions between genetic predisposition and lifestyle factors. Genetic differences among populations can influence both disease risk and therapeutic response. However, in global genetic studies, data from Han Chinese populations have been relatively underrepresented, leading to research outcomes that primarily reflect European ancestry and lack generalizability. The establishment of TPMI successfully fills this gap by creating a population-specific genetic database for Han Chinese, and by developing a customized genotyping array tailored for the Taiwanese population, allowing for more accurate representation of local genetic characteristics.

Through large-scale data analysis, the TPMI team has developed polygenic risk models (PRMs) for multiple diseases and continuous traits, and conducted cross-population validation in collaboration with the Taiwan Biobank, the UK Biobank, and the All of Us program. The results show that the models built by TPMI achieve significantly higher predictive accuracy for disease risk in Asian populations compared to non-Asian models, highlighting their substantial value for local clinical applications and population health management.

Together, these two studies form a landmark achievement representing Taiwan’s leadership in the global field of precision medicine. By leveraging genomic and clinical data, TPMI has developed population-specific genetic risk prediction models that not only support clinical decision-making but also provide crucial evidence for public health policy and personalized health management.

Overall, the TPMI marks a major breakthrough for Taiwan in biomedical big data analytics and precision health, positioning the nation as a key global player in the advancement of multi-ethnic precision medicine."

A Milestone for Inclusive Genomics: Taiwan’s Study Redefines Precision Medicine for East Asians

"For decades, most medical genetics research has focused on people of European ancestry, meaning that health risk predictions and treatments often fit Western populations far better than Asians. The two new Nature studies led by the Taiwan Precision Medicine Initiative (TPMI) mark a turning point in closing this gap.

The TPMI has collected DNA and long-term medical information from more than half a million Taiwanese patients, creating one of the world’s largest health databases for people of Han Chinese ancestry. By linking genetic information with years of health records, scientists can now explore how genes influence diseases common in East Asia—from diabetes and heart disease to liver disorders and certain cancers.

From this enormous dataset, the team discovered nearly 100 new gene variations that had never been seen before in Western studies. Some of these are linked to conditions that occur more often in Asia, such as hepatitis B and thyroid disease. Because many of these gene variants are rare or even absent in Europeans, they could only be uncovered through a large, local database like TPMI.

Using these insights, researchers built new “genetic risk models” that help estimate a person’s likelihood of developing complex diseases. These models proved just as accurate for East Asians as those developed from European data—something that was not previously possible. The findings show that genetic factors alone can explain up to 10% of overall health differences, such as the length of hospital stays or risk of chronic illness. The TPMI papers provide a dual contribution: establishing a world-class, large-scale resource for Han Chinese ancestry, and proving that robust, clinically applicable Polygenic Risk Score can be successfully developed for non-European populations. This achievement not only promises to transform precision healthcare in Taiwan and across East Asia but also establishes a vital blueprint for future large-scale genomic initiatives in other underrepresented global populations. The era of truly equitable precision medicine is finally within reach.

Beyond the science, the TPMI represents a vision for more inclusive and equitable medicine. It gives Taiwan a leadership role in showing how population-based research can make health predictions fairer and more relevant for everyone. Still, challenges remain: the database is mostly hospital-based, so adding data from community clinics and ensuring strong privacy protection will be crucial.

Overall, these studies signal the beginning of a new era in precision medicine—one where people in Asia can finally benefit from genetic discoveries that reflect their own biology, helping doctors provide earlier, more accurate, and more personalized care."

Precision Medicine Breakthroughs for Han Chinese: Insights from the Taiwan Precision Medicine Initiative

"The publication of two major studies from the Taiwan Precision Medicine Initiative (TPMI) in Nature marks a critical step toward making precision medicine truly global. These findings address a long-standing imbalance in genomic research, where individuals of Han Chinese ancestry, comprising nearly a quarter of the world’s population, remain significantly underrepresented in most large-scale genetic databases.

Why This Research is a Global Milestone

These studies are essential because most existing Polygenic Risk Scores (PRS)—tools that quantify an individual’s genetic predisposition to complex diseases—are built largely on data from European populations. Applying these Euro-centric models to other ancestries, such as East Asians, often results in dramatically reduced accuracy.

The TPMI research successfully developed population-specific PRS models for people of Han Chinese ancestry, demonstrating strong predictive performance for a wide array of conditions, including cardiometabolic diseases, autoimmune disorders, cancers, and infectious diseases. For the public, this means a future where genetic risk predictions will be far more accurate and clinically useful for the Han Chinese population, enabling more effective personalized prevention and earlier intervention strategies. For instance, the project identified 19 new genetic loci for viral hepatitis B, a disease highly prevalent in Taiwan, showcasing the power of population-specific studies to uncover unique genetic underpinnings for local health issues.

The Unique Value of the TPMI Data

The TPMI cohort is a global rarity: the largest non-European ancestry resource integrating comprehensive genetic profiles with extensive, longitudinal electronic medical records (EMR) for over half a million participants.

This database is a dynamic platform for advancing research:

• Validating Personalized Care: The cohort’s unique access to both retrospective and prospective EMR data allows scientists to track individuals over time to test and validate genetic risk prediction models, which is crucial before adopting them in clinical care.
• A Resource for East Asia: TPMI fills a critical data gap and serves as a vital model for similar large-scale genetic studies in other diverse, understudied global populations. By combining with other large East Asian biobanks, such as the Taiwan Biobank (TWB), this resource significantly enhances statistical power for the entire region.

Research Limitations and Challenges

While groundbreaking, the studies and the TPMI cohort have important limitations:

• Data Incompleteness: The hospital-based recruitment may result in ascertainment bias, meaning the cohort might overrepresent severe or chronic illnesses compared to the general population. Furthermore, the EMRs are often incomplete because the project can only access records from the enrolling hospitals, frequently missing data from local clinics or other healthcare providers.
• A "Missing Manual" for Gene Function: TPMI has successfully identified many new genetic risk factors. However, fully understanding how these genes actually work to cause disease (the molecular mechanism) is challenging. This is because other global databases that detail how genes function (like eQTL resources) still lack sufficient East Asian data, making it harder for researchers to discover the precise pathways these newly found genes affect."