Implementation of a national prenatal exome sequencing service in
England: cost-effectiveness analysis
Abstract
Objective To evaluate costs and cost-effectiveness to the
healthcare system, and costs to families, of a national prenatal exome
sequencing (pES) service additional to standard testing, compared to
standard testing alone. Design A cost-effectiveness analysis
combining costs, outcomes, parent and professional interview and
professional survey data. Setting The English National Health
Service (NHS) Genomic Medicine Service. Sample 413 cases
referred for pES testing from 01/10/2021 to 30/06/2022. Methods
We costed the incremental resource required to deliver the pES clinical
pathway, synthesising this with unit costs and outcomes data on
additional cases diagnosed to analyse cost-effectiveness. We estimated
the annual NHS budget requirement based on case numbers. We determined
parental costs from interviews. Main Outcome Measures
Incremental costs of pES to the NHS and families, incremental cost per
additional diagnosis, NHS budget impact. Results Of 413
referred cases, 241 were tested, at a cost of £2,331 (95% credibility
interval £1,894-£2,856) per referred case, or £3,592 (£2,959-£4,250) per
case that proceeded with testing. The incremental cost per diagnosis
(yield 35.3%) was £11,326 (£8,582-£15,361). At current demand levels
pES costs the NHS approximately £1.7m annually. Family costs could not
be separated from other pregnancy related appointments but were not
considered burdensome as most appointments were concurrent or remote.
Conclusions pES is more expensive than predecessor prenatal
genetic testing technologies, has a higher diagnostic yield and informs
pregnancy management and decision making. Further research into
potential savings from the foregone diagnostic odyssey resulting from
pES may be informative.