Implementation of a National Prenatal Exome Sequencing Service in England: Cost-Effectiveness Analysis.

ABSTRACT:

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 path

SUBMITTER: Smith EJ 

PROVIDER: S-EPMC11794059 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature