发达国家的罕见病携带者筛查计划和土耳其的案例:系统综述。

IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL
Çağlar Fidan, Recep Akdur, Çiğdem Naz Ünver, Ömer Can Şahin, Aslı Begüm Alper, Ali Ayhan
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引用次数: 0

摘要

要有效控制罕见病,就必须制定基于保护和预防原则的健康计划。携带者筛查计划通过识别高危人群来起到预防措施的作用。本综述结合美国、加拿大、英国、以色列、中国、澳大利亚、意大利、德国、荷兰和土耳其等十个国家的实例,探讨了携带者筛查的影响、实施情况、优势和劣势。关于携带者筛查及相关政策的数据收集于 2022 年 7 月至 11 月,并采用作者设计的编码系统以表格形式呈现。观察发现,各国筛查的疾病/障碍和人群、筛查费用以及政府提供的筛查服务存在差异。筛查的疾病数量从 3 到 47 种不等,由委员会指南、政府资源、试点研究和国家研究所资源决定。值得注意的是,与新生儿筛查项目相比,携带者筛查项目在全球范围内表现出更大的不一致性。对发达国家的比较分析可为新兴国家提供指导。为了解决地方和全球层面的不平等问题,有必要加强携带者筛查项目的建立、发展和实施。此外,还应进行筛查成本分析,并为各国分配充足的资金。总之,本综述强调了罕见病带菌者筛查的预防潜力,并强调了在全球范围内改进带菌者筛查计划以实现公平医疗结果的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Carrier screening programs for rare diseases in developed countries and the case of Turkey: A systematic review.

Effective control of rare diseases requires health programs based on principles of protection and prevention. Carrier screening programs serve as preventive measures by identifying at-risk groups. This review examines the impact, implementation, advantages, and disadvantages of carrier screening, incorporating examples from ten countries: the United States, Canada, the United Kingdom, Israel, China, Australia, Italy, Germany, the Netherlands, and Turkey. Data on carrier screening and related policies were collected from July to November 2022 and presented in a tabular format using a coding system devised by the authors. Variability was observed in the diseases/disorders and populations screened, screening expenses, and government provision across the countries. The number of diseases/disorders examined, ranging from 3 to 47, was determined by committee guidelines, government resources, pilot studies, and national institute resources. Notably, carrier screening programs exhibited greater worldwide inconsistency compared to newborn screening programs. The comparative analysis of developed countries serves to guide emerging nations. To address inequalities at both local and global levels, there is a need to enhance the establishment, development, and implementation of carrier screening programs. Furthermore, cost analyses of screening should be conducted, and adequate funding should be allocated to countries. In conclusion, this review highlights the preventive potential of carrier screening for rare diseases and emphasizes the importance of improving carrier screening programs globally to achieve equitable healthcare outcomes.

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来源期刊
Intractable & rare diseases research
Intractable & rare diseases research MEDICINE, GENERAL & INTERNAL-
CiteScore
2.10
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