Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data
- 22 November 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in Journal of Human Genetics
- Vol. 66 (6), 637-641
- https://doi.org/10.1038/s10038-020-00875-w
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.Keywords
Funding Information
- Food and Health Bureau of the Government of the Hong Kong Special Administrative Region | Health and Medical Research Fund
- Society for the Relief of Disabled Children Li Ka Shing Donation Account: Enhanced New Staff Start-up Packages Children’s Heart Foundation Edward and Yolanda Wong Fund
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