Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.

ABSTRACT:

Importance

Etiologic diagnoses for rare diseases can involve a diagnostic odyssey, with repeated health care interactions and inconclusive diagnostics. Prior studies reported cost savings associated with genome-wide sequencing (GWS) compared with cytogenetic or molecular testing through rapid genetic diagnosis, but there is limited evidence on whether diagnosis from GWS is associated with reduced health care costs.

Objective

To measure changes in health care costs after diagnosis from GWS for Canadian and English children with suspected rare diseases.

Design, setting, and participants

This cohort study was a quasiexperimental retrospective analysis across 3 distinct English and Canadian cohorts, completed in 2023. Mixed-effects generalized linear regression was used t

SUBMITTER: Weymann D 

PROVIDER: S-EPMC11238031 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature