A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.

In 30 seconds

This nationwide prospective randomized trial evaluated the diagnostic efficacy of genome sequencing (GS) compared to standard of care (SoC) in 567 individuals with unexplained developmental disorders (DD). GS demonstrated a diagnostic yield of 39.8% versus 30% for SoC (p = 0.015), indicating superior performance in identifying genetic variants.

Key findings

• GS yielded a diagnostic rate of 39.8% compared to 30% for SoC (p = 0.015).
• The diagnostic yield was significantly higher in females (45.5%) than in males (28.5%) (p < 0.001).
• De novo variants were identified in 23.6% of patients.
• Inherited variants in autosomal dominant genes contributed 3.9% to the diagnostic yield.

Why it matters

The findings support the use of genome sequencing as a more effective diagnostic tool for developmental disorders, potentially leading to improved patient management and targeted interventions based on genetic insights.