The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies

The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies

Article meta

Article Date: 15 October 2025
Article URL: https://www.nature.com/articles/s41586-025-09680-x
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Summary

The Taiwan Precision Medicine Initiative (TPMI), led by Academia Sinica with 16 major medical centres across Taiwan, has recruited 565,390 participants who consented to provide DNA and allow linkage to their electronic medical records (EMR). The cohort is Han Chinese–focused and uses population-optimised SNP arrays to support genome-wide and phenome-wide association studies, polygenic risk score (PRS) generation and pharmacogenetic analyses.

EMR linkage is both retrospective and prospective, enabling longitudinal follow-up. Participants can be recontacted, receive personalised genetic risk profiles and health-management recommendations. TPMI also created the TPMI Data Access Platform (TDAP) to centralise data, protect security and facilitate academic access.

As a large non-European, well-phenotyped cohort combining genetics with rich clinical records, TPMI aims to validate genetic risk models, test risk-based clinical interventions, advance pharmacogenetics and inform health policy — serving as a potential model for population-based precision medicine globally.

Key Points

  • TPMI has enrolled 565,390 participants with DNA samples and EMR consent, focused on Han Chinese ancestry.
  • Genotyping uses population-optimised SNP arrays to improve detection and relevance for Han Chinese populations.
  • EMR linkage is both retrospective and prospective, enabling longitudinal studies and outcome tracking.
  • Data supports GWAS, PheWAS, PRS construction and pharmacogenetic research relevant to common disease risk and drug response.
  • Participants agree to recontact and will receive personalised genetic risk profiles with health-management advice.
  • The TPMI Data Access Platform (TDAP) centralises, secures and enables academic analysis of linked genetic and clinical data.
  • The cohort addresses under‑representation of Han Chinese in global genetic studies and provides a resource to validate and adapt risk models for non‑European populations.

Context and relevance

People of Han Chinese ancestry make up a large share of the global population but have been underrepresented in genetic research. TPMI directly tackles this gap by combining a very large sample size with deep clinical data. This is timely given increasing interest in equitable PRS deployment, pharmacogenetics in clinical care and the need for population‑specific validation before clinical implementation.

For researchers and policy makers, TPMI offers the scale and longitudinal EMR linkage needed to test whether genetic risk prediction and genotype‑guided interventions translate into measurable health benefits for a non‑European population.

Author note (Punchy)

This is big and not just another biobank paper — TPMI is a purpose-built, huge Han Chinese cohort that links genetics to real clinical records and follow‑up. If you care about making PRS, pharmacogenetics or precision medicine actually work for non‑European populations, the details here matter.

Why should I read this?

Short version: TPMI gives scientists and clinicians a proper, large‑scale Han Chinese dataset with medical records — so you can stop guessing whether risk scores and drug‑genome links made in European groups will work elsewhere. If you want to know how a national programme might actually deliver personalised risk info back to people and test interventions, this is worth a skim — or a deep dive if it affects your work.

Source

Source: https://www.nature.com/articles/s41586-025-09680-x