Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group
Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group
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DOI：
10.1016/j.jval.2015.05.008
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发表时间：
2015-09-01
期刊：
影响因子：
4.5
通讯作者：
Hughes, Dyfrig A.
中科院分区：
文献类型：
--
作者：
Richter, Trevor;Nestler-Parr, Sandra;Hughes, Dyfrig A.
背景：目前，罕见病还没有统一的定义。目的：概述目前全球使用的罕见病定义。方法：我们从32个国际司法管辖区的组织中系统地检索了与罕见病相关的定义。生成定义的描述性统计量，并计算患病率阈值。结果：我们从1109个组织中确定了296个定义。术语“罕见病”和“孤儿药”使用频率最高（分别占定义的38%和27%）。“危及生命”等定性描述词很少使用。88%的司法管辖区在至少一个定义中规定了患病率阈值。各管辖区内各组织的平均发病率阈值为每100 000人5至76例。大多数司法管辖区（66%）的平均患病率阈值在40至50例/10万人之间，全球平均水平为40例/10万人。在各个管辖范围内，不同组织使用的流行率阈值差别很大。在各司法管辖区，伞式患者组织的平均患病率阈值最高（最自由）（47例/10万人），而私人支付者的阈值最低（18例/10万人）。结论：尽管不同司法管辖区和组织之间用于定义罕见病的术语和流行阈值存在差异，但术语“罕见病”和“孤儿药”使用最广泛，平均流行阈值在40至50例/10万人之间。这些发现强调了罕见病定义之间的现有多样性，但表明任何协调罕见病定义的尝试都应侧重于标准化客观标准，如流行阈值，并避免定性描述符。
Background: At present, there is no universal definition of rare disease. Objective: To provide an overview of rare disease definitions currently used globally. Methods: We systematically searched for definitions related to rare disease from organizations in 32 international jurisdictions. Descriptive statistics of definitions were generated and prevalence thresholds were calculated. Results: We identified 296 definitions from 1109 organizations. The terms "rare disease(s)" and "orphan drug(s)" were used most frequently (38% and 27% of the definitions, respectively). Qualitative descriptors such as "life-threatening" were used infrequently. A prevalence threshold was specified in at least one definition in 88% of the jurisdictions. The average prevalence threshold across organizations within individual jurisdictions ranged from 5 to 76 cases/100,000 people. Most jurisdictions (66%) had an average prevalence threshold between 40 and 50 cases/100,000 people, with a global average of 40 cases/100,000 people. Prevalence thresholds used by different organizations within individual jurisdictions varied substantially. Across jurisdictions, umbrella patient organizations had the highest (most liberal) average prevalence threshold (47 cases/100,000 people), whereas private payers had the lowest threshold (18 cases/100,000 people). Conclusions: Despite variation in the terminology and prevalence thresholds used to define rare diseases among different jurisdictions and organizations, the terms "rare disease" and "orphan drug" are used most widely and the average prevalence threshold is between 40 and 50 cases/100,000 people. These findings highlight the existing diversity among definitions of rare diseases, but suggest that any attempts to harmonize rare disease definitions should focus on standardizing objective criteria such as prevalence thresholds and avoid qualitative descriptors.