Smith Emma J, Hill Melissa, Peter Michelle, Wu Wing Han, Mallinson Corinne, Hardy Steven, Chitty Lyn S, Morris Stephen
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.
BJOG. 2025 Mar;132(4):483-491. doi: 10.1111/1471-0528.18020. Epub 2024 Nov 21.
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.
A cost-effectiveness analysis combining costs, outcomes, parent and professional interview and professional survey data.
The English NHS Genomic Medicine Service.
413 families with fetal anomalies with a suspected genetic cause referred for pES from 01 October 2021 to 30 June 2022.
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.
Incremental costs of pES to the NHS and families, incremental cost per additional diagnosis and NHS budget impact.
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.
pES costs the English NHS £11 326 for each additional diagnosis. Incremental costs to families are negligible.
2020年，英国国家医疗服务体系（NHS）开始采用产前外显子组测序（pES）来诊断胎儿结构异常。我们评估了与单独进行标准检测相比，在标准检测基础上增加pES对医疗系统的成本效益以及家庭成本。
一项结合成本、结果、家长及专业人员访谈和专业调查数据的成本效益分析。
英国NHS基因组医学服务机构。
2021年10月1日至2022年6月30日期间，413个因怀疑有遗传原因导致胎儿异常而被转诊进行pES检测的家庭。
我们计算了实施pES临床路径所需的增量资源成本。我们计算了诊断率（致病变异病例的比例）。我们将总增量成本除以确诊病例数来计算成本效益。我们根据病例数估算了NHS的年度预算需求。我们通过访谈确定了家庭成本。
pES对NHS和家庭的增量成本、每增加一例诊断的增量成本以及对NHS预算的影响。
在413例转诊病例中，241例接受了检测，每例转诊病例的成本为2331英镑（95%可信区间为1894 - 2856英镑），每例进行检测的病例成本为3592英镑（2959 - 4250英镑）。每例诊断的增量成本（诊断率为35.3%）为11326英镑（8582 - 15361英镑）。根据2022年10月1日至2023年9月30日的转诊数据，pES每年使NHS花费180万英镑。家庭成本无法与其他与妊娠相关的预约费用区分开来，但未被认为是负担；大多数预约是同时进行或远程进行的。
pES每增加一例诊断，英国NHS需花费11326英镑。对家庭的增量成本可忽略不计。
