A groundbreaking study has revealed that over 80% of cases caused by recessive genetic variants are linked to known genes. The research, conducted by scientists at the Wellcome Sanger Institute and GeneDx, analyzed data from nearly 30,000 families affected by developmental disorders. The findings suggest a shift in focus from gene discovery to interpreting changes in known genes could double diagnosis rates.
The study highlights the importance of genetic background in diagnosis and suggests that some patients may have multiple contributing genetic factors. This complexity is reflected in the estimate that around 12.5% of patients may have multiple genetic factors contributing to their condition.
The researchers identified several new genes associated with developmental disorders, including KBTBD2, CRELD1, and ZDHHC16, which provide answers for previously undiagnosed families. However, the study also emphasizes the importance of improving interpretation of harmful genetic variants in known disease-causing genes, as there are likely still diagnoses being missed.
The findings have significant implications for diagnosis and treatment of developmental disorders. By focusing on interpreting changes in known genes, clinicians may be able to diagnose twice as many patients compared to relying solely on discovering new genes. The study’s authors hope that their work will lead to more personalized and accurate diagnoses for families affected by these disorders.
Source: https://neurosciencenews.com/genetics-developmental-disorders-27658/