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


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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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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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).

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