PDF(Pubmed)
Abstract：
UNASSIGNED: Etiologic diagnoses for rare diseases can involve a diagnostic odyssey, with repeated health care interactions and inconclusive diagnostics. Prior studies reported cost savings associated with genome-wide sequencing (GWS) compared with cytogenetic or molecular testing through rapid genetic diagnosis, but there is limited evidence on whether diagnosis from GWS is associated with reduced health care costs.
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.
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.
摘要：
■罕见疾病的病因诊断可能涉及诊断冒险，反复的医疗保健互动和不确定的诊断。先前的研究报告，与通过快速基因诊断进行细胞遗传学或分子检测相比，与全基因组测序（GWS）相关的成本节省。但关于GWS诊断是否与降低医疗费用相关的证据有限.
■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。
■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。
