OBJECTIVE

Prenatal exome sequencing (pES) for diagnosing fetal structural anomalies commenced in the English National Health Service (NHS) in 2020. We evaluated cost-effectiveness to the healthcare system, and costs to families, of pES in addition 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 NHS Genomic Medicine Service.

SAMPLE

413 families with fetal anomalies with a suspected genetic cause referred for pES from 01 October 2021 to 30 June 2022.

METHODS

We costed the incremental resource required to deliver the pES clinical pathway. We calculated the diagnostic yield (proportion of cases with pathogenic variants). We divided the total incremental cost by the number of cases with a diagnosis to calculate 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 and NHS budget impact.

RESULTS

Of 413 referred cases, 241 were tested, at a cost of £2331 (95% credibility interval £1894-£2856) per referred case or £3592 (£2959-£4250) per case that proceeded with testing. The incremental cost per diagnosis (yield 35.3%) was £11 326 (£8582-£15 361). Based on referrals data 01 October 2022 to 30 September 2023, pES costs the NHS £1.8 m annually. Family costs could not be separated from other pregnancy-related appointments but were not considered burdensome; most appointments were concurrent or remote.

CONCLUSION

pES costs the English NHS £11 326 for each additional diagnosis. Incremental costs to families are negligible.