UNASSIGNED: To measure changes in health care costs after diagnosis from GWS for Canadian and English children with suspected rare diseases.
UNASSIGNED: This cohort study was a quasiexperimental retrospective analysis across 3 distinct English and Canadian cohorts, completed in 2023. Mixed-effects generalized linear regression was used to estimate associations between GWS and costs in the 2 years before and after GWS. Difference-in-differences regression was used to estimate associations of genetic diagnosis and costs. Costs are in 2019 US dollars. GWS was conducted in a research setting (Genomics England 100 000 Genomes Project [100KGP] and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service [CAUSES] Research Clinic) or clinical outpatient setting (publicly reimbursed GWS in British Columbia [BC], Canada). Participants were children with developmental disorders, seizure disorders, or both undergoing GWS between 2014 and 2019. Data were analyzed from April 2021 to September 2023.
UNASSIGNED: GWS and genetic diagnosis.
UNASSIGNED: Annual health care costs and diagnostic costs per child.
UNASSIGNED: Study cohorts included 7775 patients in 100KGP, among whom 788 children had epilepsy (mean [SD] age at GWS, 11.6 [11.1] years; 400 female [50.8%]) and 6987 children had an intellectual disability (mean [SD] age at GWS, 8.2 [8.4] years; 2750 female [39.4%]); 77 patients in CAUSES (mean [SD] age at GWS, 8.5 [4.4] years; 33 female [42.9%]); and 118 publicly reimbursed GWS recipients from BC (mean [SD] age at GWS, 5.5 [5.2] years; 58 female [49.2%]). GWS diagnostic yield was 143 children (18.1%) for those with epilepsy and 1323 children (18.9%) for those with an intellectual disability in 100KGP, 47 children (39.8%) in the BC publicly reimbursed setting, and 42 children (54.5%) in CAUSES. Mean annual per-patient spending over the study period was $5283 (95% CI, $5121-$5427) for epilepsy and $3373 (95% CI, $3322-$3424) for intellectual disability in the 100KGP, $724 (95% CI, $563-$886) in CAUSES, and $1573 (95% CI, $1372-$1773) in the BC reimbursed setting. Receiving a genetic diagnosis from GWS was not associated with changed costs in any cohort.
UNASSIGNED: In this study, receiving a genetic diagnosis was not associated with cost savings. This finding suggests that patient benefit and cost-effectiveness should instead drive GWS implementation.
■测量来自GWS的加拿大和英国疑似罕见疾病儿童诊断后医疗保健费用的变化。
这项队列研究是对3个不同的英国和加拿大队列的准实验回顾性分析,2023年完成。混合效应广义线性回归用于估计GWS前后2年内GWS与成本之间的关联。差异回归用于估计遗传诊断和成本的关联。成本为2019美元。GWS在研究环境中进行(英国基因组100000基因组项目[100KGP]和测序和评估作为服务的效用的临床评估[原因]研究诊所)或临床门诊环境(不列颠哥伦比亚省[BC]公开报销的GWS,加拿大)。参与者是患有发育障碍的儿童,癫痫症,或两者都在2014年至2019年期间接受GWS。数据从2021年4月到2023年9月进行了分析。
■GWS和遗传诊断。
■每个孩子的年度医疗保健费用和诊断费用。
■研究队列包括100KGP中的7775名患者,其中788名儿童患有癫痫(GWS的平均[SD]年龄,11.6[11.1]岁;400名女性[50.8%])和6987名儿童有智力残疾(GWS的平均[SD]年龄,8.2[8.4]岁;2750名女性[39.4%]);77名患者(GWS的平均[SD]年龄,8.5[4.4]岁;33名女性[42.9%]);不列颠哥伦比亚省118名公开报销的GWS接受者(GWS的平均[SD]年龄,5.5[5.2]岁;58名女性[49.2%])。在100KGP中,癫痫患者的GWS诊断率为143名儿童(18.1%),智力残疾患者的GWS诊断率为1323名儿童(18.9%),不列颠哥伦比亚省公开报销的47名儿童(39.8%),42名儿童(54.5%)。在研究期间,每位患者的平均年度支出为100KGP中,癫痫为5283美元(95%CI,5121-5427美元),智力残疾为3373美元(95%CI,3322-3424美元),724美元(95%CI,563-886美元),和$1573(95%CI,$1372-$1773)在BC报销设置。接受GWS的基因诊断与任何队列的成本变化无关。
■在这项研究中,接受基因诊断与成本节约无关.这一发现表明,患者的利益和成本效益应该推动GWS的实施。