Genome sequencing beat standard testing in Belgian trial of developmental disorders
Genome sequencing reached a diagnostic yield of 39.8% in 284 people with unexplained developmental disorders. Standard care managed 30% in 283. The prospective randomized trial involved all Belgian human genetics centers and was registered retrospectively. The gain came mainly from single nucleotide variants and indels (+8.7%), and genome sequencing also found three potentially pathogenic non-coding variants. In both arms, yield was higher in females than in males.
Genome sequencing may give more patients with unexplained developmental disorders a diagnosis. After adjustment, the gap shrank to 7.3% (p = 0.069), which is not statistically significant.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].