Population-scale genomic medicine with the Hong Kong Genome Project - Report - MDSpire

Population-scale genomic medicine with the Hong Kong Genome Project

  • By

  • Dingge Ying

  • Ching-Lung Cheung

  • Chun-Kwan O

  • Wai Kei Jacky Lam

  • Shiu Lun Au Yeung

  • Chak Sing Lau

  • Ho Ming Luk

  • Christopher Kai Shun Leung

  • Desiree Man Sik Tse

  • James Si Chai Liu

  • Shirley Pik Ying Hue

  • Jamie Sui Lam Kwok

  • Denis Long Him Yeung

  • Christopher Brandon Preusch

  • Wei Ma

  • Wenshu Tang

  • Amy Hin Yan Tong

  • Lisa Wing Chi Au

  • Juliana Chung-Ngor Chan

  • Yap-Hang Chan

  • Shirley Sze Wing Cheng

  • Shuk Ching Chong

  • Cheuk Wing Fung

  • Stephanie Ho

  • Suhas Krishnamoorthy

  • Gabriel Matthew Leung

  • Philip Hei Li

  • Qing Li

  • Herbert Ho-Fung Loong

  • Rashid Nok Shun Lui

  • Shan Luo

  • Becky Mingyao Ma

  • Ronald Ching Wan Ma

  • Rong Na

  • Kathryn Choon Beng Tan

  • Sheila Suet-Na Wong

  • Su-Vui Lo

  • Annie Tsz Wai Chu

  • Brian Hon Yin Chung

  • May 15, 2026

  • 0 min

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Clinical Report: Genomic Medicine at a Population Level in Hong Kong

Overview

The Hong Kong Genome Initiative (HKGI) aims to enhance genomic medicine for the Chinese population by establishing a population-specific genomic resource. The pilot phase achieved a 24% diagnostic yield for rare diseases, similar to the UK's 100,000 Genomes Project, with plans to sequence up to 120,000 genomes by 2030.

Background

Genomic medicine is crucial for diagnosing and managing rare diseases, which affect approximately 300 million individuals globally. Despite advancements, underrepresentation of Chinese populations in genomic research poses challenges in accurately diagnosing genetic conditions. The HKGI addresses this gap by integrating genomics into clinical practice and fostering research in Hong Kong.

Data Highlights

Study CohortParticipantsDiagnostic Yield
HKGP Pilot Phase520 probands24%
HKGP Diagnostic Cohort2,227 probandsNot specified
HKGP Chinese Cohort18,261 individualsNot specified

Key Findings

  • The HKGP aims to sequence 100,000–120,000 genomes by 2030.
  • Nearly 50% of HKGP participants were probands identified with genetic conditions.
  • Diagnostic yield for rare diseases in the pilot phase was 24%, comparable to the UK’s 100,000 Genomes Project.
  • Population-specific genomic resources are essential for improving diagnostic accuracy in underrepresented populations.
  • Integration of genomics into medical practice is expected to enhance early intervention and preventive care.

Clinical Implications

Healthcare professionals should consider the importance of population-specific genomic resources to improve diagnostic accuracy for rare diseases. The HKGI's findings emphasize the need for integrating genomic data into clinical practice to enhance patient outcomes and reduce health disparities.

Conclusion

The HKGI represents a significant step towards advancing genomic medicine for the Chinese population, with the potential to improve diagnosis and management of rare diseases through comprehensive genomic resources.

Related Resources & Content

  1. Hong Kong Genome Institute, Home, 2025 -- The implementation of genome sequencing in rare diseases
  2. ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) - Icahn School of Medicine at Mount Sinai
  3. A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases - ScienceDirect
  4. The ASCO Post — Integrating Genomic Sequencing Into Clinical Care
  5. npj Digital Medicine — The OurHealth Initiative: A Digital Genomic Study on Cardiometabolic Risk Factors in South Asians in the United States
  6. the pathologist — Can Genomics Solve Rare Diseases?
  7. Evaluating the Precision of BRCA1/2 Mutation Prediction Models Across Various Ethnic and Gender Groups: Insights from a Southern Chinese Population Study
  8. ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) - Icahn School of Medicine at Mount Sinai
  9. A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases - ScienceDirect
  10. Home - Hong Kong Genome Institute

Original Source(s)

Population-scale genomic medicine with the Hong Kong Genome Project

  • by Dingge Ying, Ching-Lung Cheung, Chun-Kwan O, Wai Kei Jacky Lam, Shiu Lun Au Yeung, Chak Sing Lau, Ho Ming Luk, Christopher Kai Shun Leung, Desiree Man Sik Tse, James Si Chai Liu, Shirley Pik Ying Hue, Jamie Sui Lam Kwok, Denis Long Him Yeung, Christopher Brandon Preusch, Wei Ma, Wenshu Tang, Amy Hin Yan Tong, Lisa Wing Chi Au, Juliana Chung-Ngor Chan, Yap-Hang Chan, Shirley Sze Wing Cheng, Shuk Ching Chong, Cheuk Wing Fung, Stephanie Ho, Suhas Krishnamoorthy, Gabriel Matthew Leung, Philip Hei Li, Qing Li, Herbert Ho-Fung Loong, Rashid Nok Shun Lui, Shan Luo, Becky Mingyao Ma, Ronald Ching Wan Ma, Rong Na, Kathryn Choon Beng Tan, Sheila Suet-Na Wong, Su-Vui Lo, Annie Tsz Wai Chu, Brian Hon Yin Chung

  • May 15, 2026

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