Open AccessActionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes
Author(s) -
Wanna Chetruengchai,
Vorasuk Shotelersuk
Publication year - 2021
Publication title -
journal of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 82
eISSN - 1435-232X
pISSN - 1434-5161
DOI - 10.1038/s10038-021-00982-2
Subject(s) - medical genetics , exome sequencing , genetics , exome , biology , genomics , gene , population , statistical genetics , phenotype , bioinformatics , medicine , genome , environmental health
High-throughput DNA sequencing provides not only primary diagnosis but also makes available other genetic variants with potential health implications. the American College of Medical Genetics and Genomics (ACMG) has recommended a list of medically actionable genes since 2013 and very recently released an updated ACMG SF v3.0 list comprising 73 genes. Here, we analyzed exome data of 1559 unrelated Thai individuals to determine the frequency and spectrum of pathogenic (P) or likely pathogenic (LP) variants in the 73 genes. Based on the ACMG guidelines for the interpretation of sequence variants, 68 different P/LP variants in 26 genes associated with 18 diseases inherited in an autosomal-dominant manner of 186 individuals (11.9%; 186/1559) were identified. Of these, 22 P/LP variants in 15 genes associated with 13 diseases of 85 individuals (5.5%; 85/1559) were also reported as P/LP in the ClinVar archive. The majority harbored variants in genes related to cardiovascular diseases (4.7%; 74/1559), followed by cancer phenotypes (0.5%; 8/1559). None of the individuals in our cohort harbored biallelic variants in genes responsible for diseases inherited in an autosomal recessive manner. The results would serve as a basis for precision medicine practice at individual and population levels.