ObjectivePrenatal 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.DesignA cost‐effectiveness analysis combining costs, outcomes, parent and professional interview and professional survey data.SettingThe English NHS Genomic Medicine Service.Sample413 families with fetal anomalies with a suspected genetic cause referred for pES from 01 October 2021 to 30 June 2022.MethodsWe 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 MeasuresIncremental costs of pES to the NHS and families, incremental cost per additional diagnosis and NHS budget impact.ResultsOf 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.ConclusionpES costs the English NHS £11 326 for each additional diagnosis. Incremental costs to families are negligible.

中文翻译：

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在英格兰实施国家产前外显子组测序服务：成本效益分析


目的用于诊断胎儿结构异常的产前外显子组测序 （pES） 于 2020 年在英国国家医疗服务体系 （NHS） 开始。我们评估了与单独标准检测相比，除标准检测外，pES 对医疗保健系统的成本效益以及对家庭的成本。设计结合成本、结果、家长和专业访谈以及专业调查数据的成本效益分析。样本 2021 年 10 月 1 日至 2022 年 6 月 30 日期间，413 个疑似遗传原因的胎儿异常家庭被转诊为 pES。我们计算了诊断率（具有致病性变异的病例比例）。我们将总增量成本除以确诊病例数，以计算成本效益。我们根据病例数估计了 NHS 的年度预算需求。我们从访谈中确定了父母的成本。主要结局指标pES 对 NHS 和家庭的增量成本、每次额外诊断的增量成本和 NHS 预算影响。结果在 413 个转诊病例中，有 241 个接受了检测，每个转诊病例的费用为 2331 英镑（95% 可信区间 1894 英镑至 2856 英镑）或每个进行检测的病例 3592 英镑（2959 英镑至 4250 英镑）。每次诊断的增量成本（产量 35.3%）为 11 326 英镑（8582 英镑–15 361 英镑）。根据 2022 年 10 月 1 日至 2023 年 9 月 30 日的推荐数据，pES 每年给 NHS 带来 1.8 m 英镑的费用。家庭费用不能与其他与怀孕相关的预约分开，但并不被认为是负担;大多数预约是并发或远程的。结论pES 每增加一次诊断，英国 NHS 就会花费 11 326 英镑。家庭的增量成本可以忽略不计。