At the 11th European Pediatric Congress organized by the European Pediatric Association (EPA) this year, there was a special focus on rare diseases and genetic diagnosis. Alongside the valuable contributions made by our esteemed colleague Prof. Dr. Beyhan Tüysüz, MD, PhD from Genetiks Global, who chaired three sessions and contributed to the local organizing and scientific committee, and Dr. Çağrı Oğur, PhD made a presentation titled "Diagnostic Yield of WES in Pediatric Patients: Single Center Experience”. The presentation draw attention as it discussed the impact of whole exome sequencing (WES) results on the diagnosis of rare diseases, both in general outcomes and on a case-by-case basis, based on a group of approximately 1000 patients.
Millions of children worldwide are battling rare diseases, emphasizing the vital importance of early and accurate diagnosis for improving their quality of life. WES plays a significant role in the diagnosis and management of rare pediatric diseases by enabling the identification of actionable genetic variants, guiding personalized treatment approaches, and advancing our understanding of disease mechanisms.
The success of these tests depends on the experience of the medical team, the technology used, and the expertise of bioinformatics specialists.
