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Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data

Journal of Human Genetics volume 66, pages 637–641 (2021)Cite this article

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Abstract

The use of exome and genome sequencing has increased rapidly nowadays. After primary analysis, further analysis can be performed to identify secondary findings that offer medical benefit for patient care. Multiple studies have been performed to evaluate secondary findings in different ethnicities. However, relevant data are limited in Chinese. Here, with the use of a cohort consisted of 1116 Hong Kong Chinese exome sequencing data, we evaluated the secondary findings in the 59 genes recommended by the American College of Medical Genetics and Genomics. Fifteen unique pathogenic or likely pathogenic variants in 17 individuals were identified, representing a frequency of 1.52% in our cohort. Although 20 individuals harboured pathogenic or likely pathogenic variants in recessive conditions, none carried bi-allelic mutations in the same gene. Our finding was in accordance with the estimation from the American College of Medical Genetics and Genomics that about 1% individuals harbour secondary findings.

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Acknowledgements

This study was supported by the Society for the Relief of Disabled Children, the Health and Medical Research Fund (HMRF), Li Ka Shing Donation Account: Enhanced New Staff Start-up Packages, the Children’s Heart Foundation, the Edward and Yolanda Wong Fund.

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Author notes

  1. These authors contributed equally: Clara Sze Man Tang, Kit San Yeung, Brian Hon Yin Chung

Authors and Affiliations

  1. Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China

    Mullin Ho Chung Yu, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, Mianne Lee, Mandy Ho Yin Tsang, Jeffrey Fong Ting Chau, Wanling Yang, Godfrey Chi Fung Chan, So Lun Lee, Yu Lung Lau, Kit San Yeung & Brian Hon Yin Chung

  2. Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China

    Patrick Ho-Yu Chung, Paul Kwong Hang Tam & Clara Sze Man Tang

  3. Department of Paediatrics, The Hong Kong Children’s Hospital, Hong Kong SAR, China

    Godfrey Chi Fung Chan, Yu Lung Lau & Brian Hon Yin Chung

  4. Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong SAR, China

    Godfrey Chi Fung Chan, So Lun Lee, Yu Lung Lau & Brian Hon Yin Chung

  5. Dr Li Dak-Sum Research Centre, The University of Hong Kong—Karolinska Institutet Collaboration in Regenerative Medicine, Hong Kong SAR, China

    Paul Kwong Hang Tam & Clara Sze Man Tang

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  1. Mullin Ho Chung Yu
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  10. So Lun Lee
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  11. Yu Lung Lau
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  12. Paul Kwong Hang Tam
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  13. Clara Sze Man Tang
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  14. Kit San Yeung
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  15. Brian Hon Yin Chung
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Corresponding authors

Correspondence to Clara Sze Man Tang, Kit San Yeung or Brian Hon Yin Chung.

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Yu, M.H.C., Mak, C.C.Y., Fung, J.L.F. et al. Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data. J Hum Genet 66, 637–641 (2021). https://doi.org/10.1038/s10038-020-00875-w

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