In the last decade, undiagnosed disease programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases. Therefore, in 2020-2023, a pilot program (study) for pediatric patients with undiagnosed diseases has been launched at the Department of Pediatrics at University Hospital Brno. A total of 58 Czech patients with undiagnosed diseases were enrolled in the study. All children underwent singleton WES with targeted phenotype-driven analysis. It identified 28 variants, including 11 pathogenic, 13 likely pathogenic, and 4 VUS according to ACMG guidelines, as diagnostic of genetic diseases in 25 patients, resulting in an overall diagnostic yield of 43 %. Eleven variants were novel and had not been previously reported in any public database. The overall clinical utility (actionability) enabling at least one type of change in the medical care of the patient was 76 %. The study showed that singleton WES facilitated the diagnostic process in the Czech undiagnosed pediatric population and that this diagnostic has significant implications for their care.
More details about the publication are available at this link: Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases | Scientific Reports