Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis.

Michael AbbottMandy RyanRodolfo HernándezLynda McKenzieSebastian HeidenreichLynne HockingCaroline ClarkMorad AnsariDavid MooreAnne LampeRuth McGowanJonathan BergZosia Miedzybrodzka

Published in: The European journal of health economics : HEPAC : health economics in prevention and care (2024)

2nd-line ES (after chromosomal microarray; replacing gene panel testing) for the diagnosis of developmental disorders is a cost-saving option for the Scottish NHS. Ongoing economic evaluation is required to monitor the evolving cost and diagnostic yield of GS and ES over time.

Keyphrases

genome wide
copy number
dna methylation
patient safety
single cell
gene expression
transcription factor
quality improvement
data analysis