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Implementation of a national prenatal exome sequencing service in England: cost-effectiveness analysis
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  • Emma Smith J,
  • Melissa Hill,
  • Michelle Peter,
  • Wing Han Wu,
  • Corinne Mallinson,
  • Steven Hardy,
  • Lyn Chitty,
  • Stephen Morris
Emma Smith J
Great Ormond Street Hospital for Children NHS Foundation Trust

Corresponding Author:emma.smith@gosh.nhs.uk

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Melissa Hill
Great Ormond Street Hospital for Children NHS Foundation Trust
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Michelle Peter
Great Ormond Street Hospital for Children NHS Foundation Trust
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Wing Han Wu
Great Ormond Street Hospital for Children NHS Foundation Trust
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Corinne Mallinson
National Disease Registration Service
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Steven Hardy
National Disease Registration Service
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Lyn Chitty
Great Ormond Street Hospital for Children NHS Foundation Trust
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Stephen Morris
University of Cambridge Department of Public Health and Primary Care
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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.
01 Aug 2024Submitted to BJOG: An International Journal of Obstetrics and Gynaecology
01 Aug 2024Submission Checks Completed
01 Aug 2024Assigned to Editor
01 Aug 2024Review(s) Completed, Editorial Evaluation Pending
09 Aug 2024Reviewer(s) Assigned
25 Sep 2024Editorial Decision: Revise Major
30 Oct 20241st Revision Received
07 Nov 2024Submission Checks Completed
07 Nov 2024Assigned to Editor
07 Nov 2024Review(s) Completed, Editorial Evaluation Pending
07 Nov 2024Reviewer(s) Assigned