Diagnosis Through Whole Genome Sequencing and Care Utilization in Children With Severe Illness.

Use of whole genome sequencing in severely ill children, and the consequences of a diagnosis on the subsequent care pathway

Whole genome sequencing is increasingly used in severely ill children, but its long-term association with health care utilisation remains poorly understood. This multicentre retrospective cohort study covered 270 children aged 0 to 18 from The Next Generation of Children Project (December 2016 to August 2020), with linkage of primary care and hospital records through the NIHR Rare Disease BioResource, comparing 36 health care utilisation parameters. The 87 children (32.2%) who received a genetic diagnosis showed significantly higher overall utilisation than the 183 who remained undiagnosed, with median hospital admissions of 37 versus 22 and annual outpatient visits of 14 versus 8. The gap was most marked for neurodevelopmental and seizure-related care, with annual treatment costs of £1280 versus £130 and £1277 versus £60 respectively, and a median volume of neurological prescriptions of 48 versus 0. The authors conclude that while utilisation remains intensive after diagnosis, it is accompanied by a shift toward targeted, condition-specific care.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The result runs against what decision-makers expect: making a genetic diagnosis does not reduce care consumption, it redirects and intensifies it. There is an obvious indication bias — diagnosed children are probably the most severely affected — and the retrospective design cannot remove it, which forbids reading these figures as a causal effect of diagnosis. The health-economic case for genome sequencing should therefore rest on appropriateness of care and the end of the diagnostic odyssey, not on budget savings.

Analysis by Dr Thibaut Benquey