保留生育能力的早期脆性X染色体筛查:提高生殖结果的成本效益策略

IF 6 1区 医学 Q1 OBSTETRICS & GYNECOLOGY
M Rosenberg Friedman, Y Cohen, B M B Tali, M Mira, A Foad
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引用次数: 0

摘要

研究问题:考虑到保留生育能力的结果,早期筛查(18岁)脆性X基因突变是否比晚期筛查(30岁)更具成本效益?18岁早期筛查证明成本效益高,每个质量调整生命年9330欧元,主要是因为与延迟筛查相比,生育能力保存成功率更高。已知的脆性X基因前置突变携带者可能会经历生育能力下降,面临原发性卵巢功能不全的风险增加(高达15%)。虽然理想的筛查时间是不确定的,早期发现可以促进主动生育保护。虽然存在保留生育能力的技术,但早期筛查和干预的成本效益尚未确定。研究设计、规模、持续时间建立了一个马尔可夫决策模型来评估脆性X基因突变早期筛查(18岁)与晚期筛查(30岁)的成本效益。该模型以年为周期模拟50年的队列,并对成本和健康结果采用3%的贴现率。关键输入包括脆性X基因预突变携带者的患病率、生育能力保存成本、获得亲生子女的概率,以及与生育与不生育相关的生活质量效用参与者/材料、环境、方法。该模型纳入了关键参数,包括脆性X基因预突变携带者的患病率(110分之一)、晚期筛查(84%)与早期筛查(100%)的亲生子女概率。生育保留费用(10,800欧元),以及生育(1.0)与不生育(0.7)亲生子女的效用。对关键参数进行单因素敏感性分析。与没有筛查相比,18岁早期筛查的增量成本为98欧元,每个质量调整生命年(QALY)的增量效益为0.01053欧元,每个QALY获得的增量成本效益比(ICER)为9330欧元。这一比例意味着,健康寿命每延长一年,大约要花费9,330欧元。简单来说,每个QALY 9330欧元的ICER表明,通过早期筛查确保多一年的高质量生活需要多少额外成本。如果每个额外QALY的成本低于某一阈值(通常约为20,000欧元或更多),则通常认为干预措施具有成本效益,因此每个QALY的ICER为9,330欧元表明早期筛查是一种具有成本效益的策略。敏感性分析表明,该模型的结果受分配给没有亲生子女的效用值、生育子女进行晚期筛查的概率和时间范围的影响最大。早期筛查在大范围的参数值和大范围的生育保存周期成本(5,400-16,200欧元)中仍然具有成本效益,这表明研究结果的稳健性。模型假设依赖于当前的成本估算和效用值,而这些价值在不同的医疗系统和人群中可能会有所不同。研究结果的更广泛含义这些结果支持实施早期脆性X染色体筛查计划,以优化生殖和经济结果,可能改变当前的筛查范式。试验注册号
本文章由计算机程序翻译,如有差异,请以英文原文为准。
O-038 Early fragile X screening for fertility preservation: a cost-effective strategy to enhance reproductive outcomes
Study question Is early screening (age 18) for Fragile X mutations more cost-effective than later screening (age 30) when considering fertility preservation outcomes? Summary answer Early screening at age 18 proves cost-effective at 9,330 Euro per quality-adjusted life year, primarily due to better fertility preservation success compared to delayed screening. What is known already Fragile X premutation carriers may experience reduced fertility, facing an increased risk of primary ovarian insufficiency (up to 15%). Although the ideal timing for screening is uncertain, early detection could facilitate proactive fertility preservation. While techniques for fertility preservation exist, the cost-effectiveness of early screening and intervention has not yet been established. Study design, size, duration A Markov decision model was developed to evaluate the cost-effectiveness of early screening (age 18) versus later screening (age 30) for Fragile X mutations. The model simulates a cohort over a 50-year period using annual cycles and applies a 3% discount rate to costs and health outcomes. Key inputs include the prevalence of Fragile X premutation carriers, fertility preservation costs, probabilities of achieving biological children, and quality-of-life utilities associated with having versus not having children Participants/materials, setting, methods The model incorporated key parameters including Fragile X premutation carriers' prevalence (1 in 110), probability of having biological children with late screening (84%) versus early screening (100%), fertility preservation costs (10,800 Euro), and utilities for having (1.0) versus not having (0.7) biological children. One-way sensitivity analyses were performed on key parameters. Fertility preservation costs are based on Israeli pricing, converted into euros Main results and the role of chance Early screening at age 18 was associated with an incremental cost of 98 Euro and an incremental effectiveness of 0.01053 per quality-adjusted life year (QALY) compared to no screening, resulting in an incremental cost-effectiveness ratio (ICER) of 9,330 Euro per QALY gained. This ratio means that for each additional year of healthy life gained, about 9,330 Euro is spent. In simpler terms, the ICER of 9,330 Euro per QALY shows how much extra cost is required to secure one extra year of good-quality life through early screening. Since interventions are generally considered cost-effective if the cost per additional QALY is below a certain threshold (often around 20,000 Euro or more), an ICER of 9,330 Euro per QALY indicates that early screening is a cost-effective strategy. Sensitivity analyses demonstrated that the model’s results were most influenced by the utility value assigned to not having biological children, the probability of having children with late screening, and the time horizon. Early screening remained cost-effective across a wide range of parameter values, and wide range of fertility preservation cycles costs (5,400-16,200 Euro) suggesting the robustness of the findings Limitations, reasons for caution Model assumptions rely on current cost estimates and utility values which may vary across different healthcare systems and populations Wider implications of the findings These results support implementing early Fragile X screening programs to optimize both reproductive and economic outcomes, potentially changing current screening paradigms. Trial registration number No
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来源期刊
Human reproduction
Human reproduction 医学-妇产科学
CiteScore
10.90
自引率
6.60%
发文量
1369
审稿时长
1 months
期刊介绍: Human Reproduction features full-length, peer-reviewed papers reporting original research, concise clinical case reports, as well as opinions and debates on topical issues. Papers published cover the clinical science and medical aspects of reproductive physiology, pathology and endocrinology; including andrology, gonad function, gametogenesis, fertilization, embryo development, implantation, early pregnancy, genetics, genetic diagnosis, oncology, infectious disease, surgery, contraception, infertility treatment, psychology, ethics and social issues.
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