Genomics in Clinical Practice

In a remarkable study notable for its scale (>13,500 families of probands), scope (all branches of pediatric clinical practice), and implementation in clinical practice, the Deciphering Developmental Disorders (DDD) project, led by Wright and colleagues,1 investigated rare genomic disease in the United Kingdom and Ireland. These investigators identified and communicated molecular diagnoses to thousands of families with members who had previously undiagnosed developmental disorders. The findings from this study show how a genome-driven approach in combination with detailed clinical phenotyping improves diagnostic yield over that with the previous standard of care. A multiple logistic-regression analysis of clinical and demographic information . . .