Skip to content

Professor Choy Kwong Wai Richard

Professor, Department of Obstetrics and Gynaecology, CUHK

Research Theme

Genetics & Genomics

Learn more

Biography

Prof. Choy is an expert in genomic medicine and molecular diagnosis. He co-founded the Prenatal Genetic Diagnosis Centre and the Pre-implantation Genetic Diagnosis Laboratory at The Chinese University of Hong Kong (CUHK). The Centre was accredited by The National Association of Testing Authorities, Australia (NATA) in 2012 with partial funding support from the Hospital Authority.

His current research focuses on developing genomic technologies, including low-pass whole-genome sequencing (Low-pass WGS) for paediatrics, prenatal diagnosis, and reproductive medicine. Prof. Choy has published extensively on the application of genomic technologies in clinical practice, with several landmark papers uncovering the contribution of copy number variations (CNVs) in fetuses with structural malformations.

He has secured over 60 external competitive research grants, including CRF, GRF, HMRF, and ITF as Principal Investigator (PI), and Theme-based Research Scheme and China Key Programme grants as co-PI. Prof. Choy has contributed 247 publications in international peer-reviewed journals, with a total citation count of 7,059 and an H-index of 47. He serves on the editorial boards of Human Genetics and Human Genome Variation.

Prof. Choy’s outstanding track record in training the next generation of genetic research scientists and medical geneticists in Asia was internationally recognized by the Association of Chinese Geneticists in America (ACGA), which awarded him the Excellence in Genetics Education Award in 2023. In 2025, he was conferred Honorary Fellow of the Hong Kong College of Obstetricians and Gynaecologists.

He currently holds leadership roles as Chairman of the Hong Kong Society of Medical Genetics, Vice-President of the Hong Kong Society of Genetic Counselling, and serves as a Board Member of the Preimplantation Genetic Diagnosis International Society (PGDIS), the International Society for Prenatal Diagnosis (ISPD), and ASPIRE Reproductive Genetics SIG Committee Chair.

Prof. Choy is a three-time recipient of the Excellent Research Award from the Food and Health Bureau and continues to contribute significantly to advancing genomic medicine and education in Asia.

  • PhD in Genetics, Department of Chemical Pathology, The Chinese University of Hong Kong
  • Development of novel molecular diagnostic strategies and innovative applications of molecular analysis tools in prenatal diagnosis. One of my research foci is on the development of the genomic technologies including chromosomal microarray analysis (CMA) and Low-pass whole genome sequencing (Low-pass WGS) for prenatal diagnosis and reproductive medicine.
  • Research in developmental genomic: studying human chromosome structure (copy number variation and chromosomal re-arrangements) and genome function (molecular mechanisms of normal and abnormal fetal development) in relation to birth defects and neurogenetics.
 
  • Genomic medicine
  • Prenatal and pre-implantation genetic diagnosis
  • Genetics
 
  • BSc (Brad.)
  • MSc(Med) (Birm.)
  • PhD (CUHK)
 
  • 2018-present Core member, Hong Kong Hub Of Paediatric Excellence, CUHK Research Institute at Hong Kong Children’s Hospital, CUHK.
  • 2016-present Core member, The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, CUHK.
  • 2013-present Deputy Director, CUHK-University of Utrecht Joint Centre for Language, Mind and Brain, CUHK.
  • 2013-present Director, Pre-implantation Genetic Diagnosis Laboratory, Department of Obstetrics & Gynaecology, CUHK.
  • 2011-present Director, Prenatal Genetic Screening and Diagnosis Laboratory, Prince of Wales Hospital.
  • 2011-present 研究员, 香港中文大学深圳研究院, 深圳
  • 2009-present Associate Member and Adjunct Professor of the “Reproduction, Development and Endocrinology” Theme, School of Biomedical Sciences, CUHK.
  • 2007-present Co-ordinator, Agilent Microarray Core Facilities, CUHK
  • 2006-present Honorary Scientific Officer (Medical), New Territories East Cluster, Hospital Authority.
  • 2005-present Deputy Director, Prenatal Genetic Diagnosis Centre, Department of Obstetrics & Gynaecology, CUHK
  • CHOY KW, DONG Z, CAO Y, YANG Z. Methods for detecting absence of heterozygosity by low-pass genome sequencing. US Provisional Application no: 62/894,491, filed on 08/30/2019
  • 2014- 2016 Chief Scientific Officer, Angsana Molecular & Diagnostics Laboratory Pte Ltd, Singapore.
  • Managing Director, Angsana Molecular & Diagnostics Laboratory (HK) Ltd. Hong Kong
 

Selected Publications

  • Zhou Z, Tan C, Chau MHK, Jiang X, Ke Z, Chen X, Cao Y, Kwok YK, Bellgard M, Leung TY, Choy KW, Dong Z. TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms. Nucleic Acids Res. 2023 Jan 6;51(D1):D1168-D1178.
  • Chung CY, Pan DJ, Paracchini S, Jiang W, So HC, McBride C, Maurer U, Zheng M, Choy KW. Dyslexia-related loci are significantly associated with language and literacy in Chinese-English bilingual Hong Kong Chinese twins. Hum Genet. 2023 Oct;142(10):1519-1529
  • Cao Y, Luk HM, Zhang Y, Chau MHK, Xue S, Cheng SSW, Li AM, Chong JSC, Leung TY, Dong Z, Choy KW, Lo IFM. Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders. Front Genet. 2022 Apr 14;13:803088.
  • Dong Z, Chau MHK, Zhang Y, Yang Z, Shi M, Wah YM, Kwok YK, Leung TY, Morton CC, Choy KW. Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics. Genet Med. 2021 Jul;23(7):1225-1233.
  • Liang Q, Gu W, Chen P, Li Y, Liu Y, Tian M, Zhou Q, Qi H, Zhang Y, He J, Li Q, Tang L, Tang J, Teng Y, Zhou Y, Huang S, Lu Z, Xu M, Hou W, Huang T, Li Y, Li R, Hu L, Li S, Guo Q, Zhuo Z, Mou Y, Cram DS, Wu L. A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA). J Mol Diagn. 2021 Sep;23(9):1195-1204.