安大略省阿尔茨海默病基因测序检验的成本效益。

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2023-04-01 Epub Date: 2022-11-25 DOI:10.1007/s12687-022-00619-7
Nicolas Iragorri, Danielle Toccalino, Sujata Mishra, Brian Cf Chan, Allison A Dilliott, John F Robinson, Robert A Hegele, Rebecca Hancock-Howard
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引用次数: 0

摘要

阿尔茨海默病(AD)影响着大约 25 万安大略人,预计到 2040 年这一数字将翻一番。安大略省神经退行性疾病研究计划(Ontario Neurodegenerative Disease Research Initiative)开发了一种省内基因测试(ONDRISeq),目前正在安大略省进行实验。本研究旨在估算ONDRISeq诊断AD相对于境外(OOC)检测(现状)的相关成本和健康结果。本研究针对安大略省 65 岁高龄、有注意力缺失症风险的人群,进行了为期 25 年的成本效用分析。从医疗支付方的角度评估了成本和健康结果(质量调整生命年 (QALY))。成本效益以 50,000 美元的成本效益阈值进行评估。进行了概率敏感性分析,以评估参数的不确定性。与 OOC 检测相比,ONDRISeq 为每位患者节省了 54 美元,并在基础案例中带来了较小的 QALY 增益(每位患者 0.0014)。结果对检测成本、接受率和治疗效果最为敏感。在 10,000 次概率迭代中,ONDRISeq 在 75% 的时间内都比 OOC 检测更具性价比。使用ONDRISeq有望节省医疗系统的成本。安大略省的AD基因检测能否转用ONDRISeq取决于能否满足预期的检测量。
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Cost-effectiveness of a gene sequencing test for Alzheimer's disease in Ontario.

Alzheimer's f disease (AD) affects approximately 250,000 Ontarians, a number that is expected to double by 2040. The Ontario Neurodegenerative Disease Research Initiative has developed an in-province genetic test (ONDRISeq), which currently runs in Ontario in an experimental capacity. The aim of this study is to estimate the costs and health outcomes associated with ONDRISeq to diagnose AD relative to out-of-country (OOC) testing (status quo). A cost-utility analysis was developed for a hypothetical cohort of 65-year-olds at risk of AD in Ontario over a 25-year time horizon. Costs and health outcomes (quality-adjusted life years (QALYs)) were assessed from a healthcare payer perspective. Cost-effectiveness was assessed with a $50,000 cost-effectiveness threshold. Probabilistic sensitivity analyses were conducted to evaluate parameter uncertainty. ONDRISeq saved $54 per patient relative to OOC testing and led to a small QALY gain in the base case (0.0014 per patient). Results were most sensitive to testing costs, uptake rates, and treatment efficacy. ONDRISeq represented better value for money relative to OOC testing throughout 75% of 10,000 probabilistic iterations. Using ONDRISeq is expected to provide health system cost savings. Switching to ONDRISeq for AD genetic testing in Ontario would be dependent on the ability to accommodate the expected testing volumes.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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