PDF(Pubmed)
Abstract：
BACKGROUND: While health care and societal costs are routinely modelled for most diseases, there is a paucity of comprehensive data and cost-of-illness (COI) studies for inherited retinal diseases (IRDs). This lack of data can lead to underfunding or misallocation of resources. A comprehensive understanding of the COI of IRDs would assist governmental and healthcare leaders in determining optimal resource allocation, prioritizing funding for research, treatment, and support services for these patients.
METHODS: Following PRISMA guidelines, a literature search was conducted using Medline, EMBASE and Cochrane databases, from database inception up to 30 Jun 2023, to identify COI studies related to IRD. Original studies in English, primarily including patients with IRDs, and whose main study objective was the estimation of the costs of IRDs and had sufficiently detailed methodology to assess study quality were eligible for inclusion. To enable comparison across countries and studies, all annual costs were standardized to US dollars, adjusted for inflation to reflect their current value and recalculated on a \"per patient\" basis wherever possible. The review protocol was registered in PROSPERO (registration number CRD42023452986).
RESULTS: A total of nine studies were included in the final stage of systematic review and they consistently demonstrated a significant disease burden associated with IRDs. In Singapore, the mean total cost per patient was roughly US$6926/year. In Japan, the mean total cost per patient was US$20,833/year. In the UK, the mean total cost per patient with IRD ranged from US$21,658 to US$36,549/year. In contrast, in the US, the mean total per-patient costs for IRDs ranged from about US$33,017 to US$186,051 per year. In Canada, these mean total per-patient costs varied between US$16,470 and US$275,045/year. Non-health costs constituted the overwhelming majority of costs as compared to healthcare costs; 87-98% of the total costs were due to non-health costs, which could be attributed to diminished quality of life, poverty, and increased informal caregiving needs for affected individuals.
CONCLUSIONS: IRDs impose a disproportionate societal burden outside health systems. It is vital for continued funding into IRD research, and governments should incorporate societal costs in the evaluation of cost-effectiveness for forthcoming IRD interventions, including genomic testing and targeted therapies.
METHODS: Following PRISMA guidelines, a literature search was conducted using Medline, EMBASE and Cochrane databases, from database inception up to 30 Jun 2023, to identify COI studies related to IRD. Original studies in English, primarily including patients with IRDs, and whose main study objective was the estimation of the costs of IRDs and had sufficiently detailed methodology to assess study quality were eligible for inclusion. To enable comparison across countries and studies, all annual costs were standardized to US dollars, adjusted for inflation to reflect their current value and recalculated on a \"per patient\" basis wherever possible. The review protocol was registered in PROSPERO (registration number CRD42023452986).
RESULTS: A total of nine studies were included in the final stage of systematic review and they consistently demonstrated a significant disease burden associated with IRDs. In Singapore, the mean total cost per patient was roughly US$6926/year. In Japan, the mean total cost per patient was US$20,833/year. In the UK, the mean total cost per patient with IRD ranged from US$21,658 to US$36,549/year. In contrast, in the US, the mean total per-patient costs for IRDs ranged from about US$33,017 to US$186,051 per year. In Canada, these mean total per-patient costs varied between US$16,470 and US$275,045/year. Non-health costs constituted the overwhelming majority of costs as compared to healthcare costs; 87-98% of the total costs were due to non-health costs, which could be attributed to diminished quality of life, poverty, and increased informal caregiving needs for affected individuals.
CONCLUSIONS: IRDs impose a disproportionate societal burden outside health systems. It is vital for continued funding into IRD research, and governments should incorporate societal costs in the evaluation of cost-effectiveness for forthcoming IRD interventions, including genomic testing and targeted therapies.
摘要：
背景：虽然医疗保健和社会成本通常适用于大多数疾病，对于遗传性视网膜疾病(IRD),缺乏全面的数据和疾病成本(COI)研究.缺乏数据可能导致资金不足或资源分配不当。全面了解IRD的COI将有助于政府和医疗保健领导人确定最佳资源分配，优先考虑研究经费，治疗,为这些患者提供支持服务。
方法：遵循PRISMA指南，使用Medline进行了文献检索，EMBASE和Cochrane数据库,从数据库开始到2023年6月30日，确定与IRD相关的COI研究。英文原著研究,主要包括IRD患者，他们的主要研究目标是评估IRD的成本，并有足够详细的方法来评估研究质量，符合纳入条件。为了进行国家和研究之间的比较，所有年度成本都标准化为美元，根据通货膨胀进行调整，以反映其当前价值，并尽可能在“每位患者”的基础上重新计算。审查方案在PROSPERO(注册号CRD42023452986)中注册。
结果：共有9项研究被纳入系统评价的最后阶段，它们一致证明了与IRD相关的显著疾病负担。在新加坡,每名患者的平均总费用约为6926美元/年.在日本,每名患者的平均总费用为20,833美元/年.在英国,每位IRD患者的平均总费用为21,658美元/年至36,549美元/年.相比之下,在美国,IRD的平均每位患者的总费用为每年约33,017美元至186,051美元.在加拿大,这些平均每位患者的总费用在16,470美元/年和275,045美元/年之间。与医疗费用相比，非医疗费用占绝大多数；总费用的87-98%是由于非医疗费用，这可能归因于生活质量下降，贫穷,以及受影响个人的非正式护理需求增加。
结论：IRD在卫生系统之外施加了不成比例的社会负担。对于IRD研究的持续资助至关重要，政府应将社会成本纳入即将实施的IRD干预措施的成本效益评估中，包括基因组测试和靶向治疗。
方法：遵循PRISMA指南，使用Medline进行了文献检索，EMBASE和Cochrane数据库,从数据库开始到2023年6月30日，确定与IRD相关的COI研究。英文原著研究,主要包括IRD患者，他们的主要研究目标是评估IRD的成本，并有足够详细的方法来评估研究质量，符合纳入条件。为了进行国家和研究之间的比较，所有年度成本都标准化为美元，根据通货膨胀进行调整，以反映其当前价值，并尽可能在“每位患者”的基础上重新计算。审查方案在PROSPERO(注册号CRD42023452986)中注册。
结果：共有9项研究被纳入系统评价的最后阶段，它们一致证明了与IRD相关的显著疾病负担。在新加坡,每名患者的平均总费用约为6926美元/年.在日本,每名患者的平均总费用为20,833美元/年.在英国,每位IRD患者的平均总费用为21,658美元/年至36,549美元/年.相比之下,在美国,IRD的平均每位患者的总费用为每年约33,017美元至186,051美元.在加拿大,这些平均每位患者的总费用在16,470美元/年和275,045美元/年之间。与医疗费用相比，非医疗费用占绝大多数；总费用的87-98%是由于非医疗费用，这可能归因于生活质量下降，贫穷,以及受影响个人的非正式护理需求增加。
结论：IRD在卫生系统之外施加了不成比例的社会负担。对于IRD研究的持续资助至关重要，政府应将社会成本纳入即将实施的IRD干预措施的成本效益评估中，包括基因组测试和靶向治疗。
