Coleman John, Moloney Patrick, Giffney Claire, Regan Mary O, Webb David, Lynch Kenny, Connolly Leona, Kenny Janna, Byrne Susan
Department of Clinical Genetics, Children's Health Ireland, Crumlin, Dublin, Ireland.
FutureNeuro, Royal College of Surgeons Ireland, Dublin, Ireland.
J Genet Couns. 2025 Aug;34(4):e70083. doi: 10.1002/jgc4.70083.
To understand the modality and results of genetic testing in a tertiary pediatric neurology center, we undertook a review of testing to provide insights into both direct and indirect costs of testing within the department. The financial cost of 5 years (2017-2022) of genetic testing sent by the neurology department in Children's Health Ireland, Crumlin, was calculated using the local testing cost directory and converted to USD based on the relevant exchange rate. We calculated the indirect clinical costs based on previously reported time estimates. This included an estimate for face-to-face patient-related activity and additional patient-related activity. We explored the challenges raised from the data. Eight hundred and twenty-three genetic tests were requested on 541 patients over the 5-year study period by 2.5 neurology consultants full-time equivalents (FTE). The total direct cost of testing was $802,278 over the 5-year period ($160,462.68 per annum). For indirect costing, the estimate of 45 min per person for face-to-face-related testing activities took the neurology consultants 617.25 h to obtain consent and deliver results, which equates to 16.6 weeks of consultant clinical time during the study period. With regard to indirect time, an additional 3 h of patient-related activity equates to 43.9 working weeks over the study period. We estimate a potential saving of $217,127.8 if these duties were provided by a genetic counselor rather than a consultant. The addition of a genetic counselor would significantly free up neurology consultant time as the estimated activity of the patient-facing activity and patient-related activity equals an estimated 60.6 consultant work weeks over the 5-year study period. New genetic and genomic testing modalities have led to massive improvements in diagnostic rates in neurology conditions. While we had anticipated that our study would demonstrate significant direct costs, we had not expected such substantial indirect (time associated) costs associated with genetic testing. This study highlights the benefit of additional subspecialty genetic counselors to support care in mainstream genetic testing.
为了解一家三级儿科神经学中心基因检测的方式及结果，我们对检测情况进行了回顾，以深入了解该科室检测的直接和间接成本。利用当地检测成本目录计算了爱尔兰儿童健康中心克伦林分院神经科2017年至2022年这5年的基因检测财务成本，并根据相关汇率换算成美元。我们根据先前报告的时间估算来计算间接临床成本。这包括面对面患者相关活动及额外患者相关活动的估算。我们探究了数据所带来的挑战。在5年研究期内，2.5名全职等效神经科顾问为541名患者进行了823次基因检测。5年期间检测的总直接成本为802,278美元（每年160,462.68美元）。对于间接成本计算，面对面检测活动每人45分钟的估算意味着神经科顾问花费617.25小时来获取同意并给出结果，这相当于研究期间顾问临床时间的16.6周。关于间接时间，额外3小时的患者相关活动相当于研究期间43.9个工作周。我们估计，如果这些工作由基因顾问而非顾问来承担，可能节省217,127.8美元。增加一名基因顾问将显著腾出神经科顾问的时间，因为在5年研究期上面向患者活动和患者相关活动的估算工作量相当于约60.6个顾问工作周。新的基因和基因组检测方式已使神经疾病的诊断率大幅提高。虽然我们预计研究将显示出巨大的直接成本，但没想到基因检测会有如此巨大的间接（时间相关）成本。这项研究凸显了增加专科基因顾问以支持主流基因检测护理的益处。
