Briscoe Simon, Martin Pintado Clara, Sutcliffe Katy, Melendez-Torres G J, Garside Ruth, Lawal Hassanat M, Orr Noreen, Shaw Liz, Thompson Coon Jo
University of Exeter Medical School, University of Exeter, Exeter, UK.
EPPI Centre, UCL Social Research Institute, University College London, London, UK.
Orphanet J Rare Dis. 2025 Jun 12;20(1):303. doi: 10.1186/s13023-025-03818-w.
People with a rare disease find it difficult to obtain a diagnosis and access appropriate services. Evidence suggests that this can lead to health inequity amongst the rare disease community, i.e. systemic, unfair and avoidable differences in health opportunities and outcomes. This scoping review aims to identify and describe evidence on health inequities experienced by the rare disease community with regards to receipt of a diagnosis and access to health and social care services.
We searched ASSIA, CINAHL, Embase, HMIC, MEDLINE and Social Policy and Practice for relevant studies. Studies were double screened at title and abstract and full-text using pre-specified inclusion criteria. As this research was commissioned by the UK National Institute for Health and Care Research Policy Research Programme, primary studies were limited to UK settings. These were supplemented with international systematic reviews. We also applied a 2010 date limit. Relevant data were extracted and presented narratively and tabulated.
One hundred thirty-six studies met the inclusion criteria, including 96 primary studies and 40 systematic reviews. The most frequently occurring rare diseases were motor neurone disease, cystic fibrosis and sickle cell disease. Seventeen types of inequity were identified: delayed diagnosis, lack of knowledge amongst clinicians, lack of information provision, limited services provision (across six different services), limited services for undiagnosed conditions, lack of care co-ordination; in addition, inequity was identified relating to place of residence, race/ethnicity, gender, socioeconomic status, age and disability.
This review has drawn attention to experiences of the rare disease community with respect to receipt of a diagnosis and access to services which are different to experiences in the general population, and within the rare disease community itself. Some of these experiences are clearly attributable to factors which are unfair, avoidable and systemic, particularly those which relate to specific groups in the rare disease community. Experiences relating to delayed diagnosis, lack of knowledge, information, care co-ordination and access to various services, also appeared to indicate inequity. These issues are less likely to be encountered with respect to more common diseases experienced in the general population.
罕见病患者难以获得诊断并获得适当的服务。有证据表明，这可能导致罕见病群体中的健康不平等，即在健康机会和结果方面存在系统性、不公平且可避免的差异。本综述旨在识别和描述罕见病群体在获得诊断以及获得健康和社会护理服务方面所经历的健康不平等的证据。
我们在ASSIA、CINAHL、Embase、HMIC、MEDLINE以及社会政策与实践数据库中检索相关研究。研究在标题、摘要和全文阶段使用预先设定的纳入标准进行双重筛选。由于本研究由英国国家卫生与保健研究政策研究计划委托开展，主要研究限于英国背景。这些研究辅以国际系统评价。我们还设定了2010年的时间限制。提取相关数据并进行叙述性呈现和列表展示。
136项研究符合纳入标准，包括96项主要研究和40项系统评价。最常出现的罕见病是运动神经元病、囊性纤维化和镰状细胞病。识别出17种不平等类型：诊断延迟、临床医生知识不足、信息提供缺乏、服务提供有限（涉及六种不同服务）、针对未确诊疾病的服务有限、缺乏护理协调；此外，还识别出与居住地点、种族/民族、性别、社会经济地位、年龄和残疾相关的不平等。
本综述关注了罕见病群体在获得诊断和服务方面的经历，这些经历与普通人群以及罕见病群体内部的经历不同。其中一些经历显然归因于不公平、可避免且系统性的因素，特别是那些与罕见病群体中的特定群体相关的因素。与诊断延迟、知识缺乏、信息不足、护理协调以及获得各种服务相关的经历，似乎也表明存在不平等。在普通人群中更常见的疾病方面，这些问题不太可能出现。
