Belgian trial: genome sequencing diagnoses more developmental disorders than standard testing
Genome sequencing reached a diagnosis in 39.8% of patients with unexplained developmental disorders (113 of 284), against 30% (85 of 283) for standard care, a Belgian randomized trial found. The prospective study covered 567 individuals and involved all Belgian human genetics centers. It was published in 2026. Standard care combined exome sequencing with chromosomal microarray analysis or shallow genome sequencing. Most of the gap came from more single nucleotide variants and indels, up 8.7%. Genome sequencing also picked up three non-coding variants that are potentially pathogenic.
Patients with unexplained developmental disorders may get more answers from genome sequencing. One caution: after correcting for sex distribution and analytical differences between the study arms, the gap fell 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].