Genes, Год журнала: 2025, Номер 16(4), С. 401 - 401

Опубликована: Март 30, 2025

Genetically transitional disease (GTD) is emerging as a new concept in genomic medicine to straddle between the traditional binary classification of monogenic and polygenic disease. Genetic testing result reports molecular laboratories have been predicated on model, which focuses pathogenic likely variants. While variants uncertain significance (VUS) are reported by laboratories, there challenges with regard their clinical application so that these often dismissed ordering physicians. Unlike Mendelian disorders, where genetic high penetrance highly probabilistic, GTD employed highlight impact low-to-moderate effect gene whose influence modified background. The may explain health conditions associated necessary but not sufficient for pathogenesis, lying mid gray zone diseases. Although VUSs reach level pathogenicity based American College Medical Genetics Genomics guidelines, they could be provisionally classified GTD-associated annotate interpret relationship VUS human appropriate implementation patient care research focusing attention individual variability responses various

Язык: Английский