Population-scale genomic medicine with the Hong Kong Genome Project - Summary - 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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Objective:

To establish a population-specific genomic resource for the Chinese population, enhancing the diagnosis and management of rare diseases and other conditions.

Key Findings:
  • Achieved a 24.8% diagnostic yield in the diagnostic cohort of 2,227 probands, indicating significant progress in rare disease diagnosis.
  • Higher diagnostic yields observed in non-singleton probands and those with more phenotype terms, suggesting the importance of family history.
  • Identified 572 unique pathogenic or likely pathogenic variants across 350 genes, contributing valuable data to genomic resources.
Interpretation:

The HKGP addresses the underrepresentation of Chinese populations in genomic research, significantly enhancing diagnostic capabilities and informing clinical practices for better health outcomes.

Limitations:
  • The study primarily focuses on a specific population, which may limit generalizability to other ethnic groups.
  • Potential biases in variant classification due to underrepresentation in international databases may affect diagnostic accuracy.
Conclusion:

The HKGP lays a foundation for integrating genomics into medical practice in Hong Kong, aiming to improve health outcomes through personalized medicine and addressing health disparities.

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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