Akademik Veri Yönetim Sistemi
57th European Society of Human Genetics (ESHG) Conference, Berlin, Almanya, 1 - 04 Haziran 2024, ss.1196-1197, (Özet Bildiri)
Clinical exome sequencing has the potential to detect secondary findings recommended for reporting by the American College of Genetics and Genomics Obtaining unbiased data on the prevalence of these secondary findings is essential to provide a deeper understanding of the potential risks and benefits. Clinical exome sequencing is becoming part of the routine clinical approach Despite the implications of the results, there are challenges in identifying, interpreting, and communicating these findings to patients. The American College of Genetics and Genomics has published guidelines on reporting genomic data in 56 genes associated with clinically important and clinically severe phenotypes to address this issue. As a result of new studies, the guidelines were expanded to 59, 78, and 81 genes, with updates in 2017, 2022, and 2023, respectively. Therefore, within the scope of this study, 1600 clinical exome data from our center were evaluated for the genes belonging to ACMG 81 secondary findings. According to the results of our study, the most common variants reported as pathogenic/likely pathogenic in ClinVar as secondary findings in ACMG 81 gene were MUTYH (%20,69), ATP7B (%17,24), BTD (%8,05), GAA (%8,05) respectively. In the variants that were not presented in ClinVar but considered to be pathogenic/likely pathogenic by InterVar and ANNOVAR prediction algorithms, TTN (61.62%), RYR2 (4.32%), SCN5A (3.24%), respectively. Obtaining these genomic data will enable the management of diseases and determine the population-specific frequency of these genes