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

Autor: Smith EJ; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Hill M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Peter M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Wu WH; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Mallinson C; National Disease Registration Service, National Health Service England, London, UK., Hardy S; National Disease Registration Service, National Health Service England, London, UK., Chitty LS; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Morris S; Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Jazyk: angličtina
Zdroj: BJOG : an international journal of obstetrics and gynaecology [BJOG] 2024 Nov 21. Date of Electronic Publication: 2024 Nov 21.
DOI: 10.1111/1471-0528.18020
Abstrakt: 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.
(© 2024 The Author(s). BJOG: An International Journal of Obstetrics and Gynaecology published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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