发达国家的罕见疾病携带者查计划和土耳其的案例:系统性审查
Çağlar Fidan1, Recep Akdur1, Çiğdem Naz Ünver2
1Department of Public Health, Başkent University Faculty of Medicine, Ankara, Turkey.
Intractable & rare diseases research
|September 4, 2023
概括
携带者查计划对于通过识别有风险的人来预防罕见疾病至关重要. 全球实施显示出显著的变化,需要加强计划和资金用于公平的医疗保健.
科学领域:
- 公共卫生 公共卫生
- 遗传学 是一个遗传学.
- 预防医学 预防医学
背景情况:
- 有效的罕见病管理依赖于保护和预防策略.
- 携带者查计划是关键的预防措施,识别有风险的个人和人群.
- 在运营商查的实施和范围方面存在全球差异.
研究的目的:
- 审查全球运营商查计划的影响,实施,优点和缺点.
- 分析十个不同国家的载体查政策和实践.
- 确定全球载体查计划需要改进的领域.
主要方法:
- 对运营商查计划和政策进行了全面审查.
- 收集了来自10个国家的数据 (美国,加拿大,英国,以色列,中国,澳大利亚,意大利,德国,荷兰,土耳其) (2022年7月至11月).
- 信息系统地以表格格式呈现,使用自定义编码系统.
主要成果:
- 在查的疾病/疾病 (3-47),目标人群,成本和政府支持方面发现了显著的变化.
- 携带者查计划的全球不一致性比新生儿查计划更大.
- 发达国家的方法为新兴国家提供了洞察力.
结论:
- 携带者查对罕见疾病有很大的预防潜力.
- 在全球范围内,加强这些计划的建立,开发和实施至关重要.
- 进行成本分析和分配足够的资金对于公平的准入和结果至关重要.
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