Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, VIC, Australia.
School of Public Health and Preventive Medicine, Monash University, Victoria, 3004, Australia.
BMC Health Serv Res. 2023 Oct 31;23(1):1187. doi: 10.1186/s12913-023-10049-x.
Rare disease registries (RDRs) facilitate monitoring of rare diseases by pooling small datasets to increase clinical and epidemiological knowledge of rare diseases and promote patient centred best practice. The aim of this study was to understand the current state of RDRs in Australia, data captured, impact on patient outcomes, funding models, and barriers and enablers regarding their establishment and maintenance.
An exploratory sequential mixed methods study design was adopted. First, a list of Australian RDRs, primary contacts and data custodians was generated through online and consumer group (Rare Voices Australia (RVA)) contacts. A cross-sectional, anonymous online survey was distributed to registry custodians, managers, or principal investigators of 74 identified Australian RDRs, 88 RVA Partners, 17 pharmaceutical organizations and 12 RVA Scientific and Medical Advisory Committee members. Next, managers and coordinators of RDRs and databases who participated in the survey were invited to participate in semi-structured interviews. Quantitative and qualitative data were analysed using basic descriptive statistics and content analysis, respectively.
Forty RDRs responded to the survey; nine were national, five were based in Australia and New Zealand, and the remaining were global. Of the 40 survey respondents, eight were interviewed. Most of the RDRs captured similar information regarding patient characteristics, comorbidities and clinical features, diagnosis, family history, genetic testing, procedures or treatment types, response to treatments and complications of treatments. Better treatment outcomes, changes in process of care and changes in quality of care were the most frequently reported benefits of the RDRs. The main challenges proved to be cost/funding of data collection, data completeness, and patient consent. When asked, the participants identified opportunities and challenges regarding potential options to streamline RDRs in Australia in the future.
Findings from this study highlighted significant dataset heterogeneity based on the individual disease, and current lack of interoperability and coordination between different existing RDRs in Australia. Nevertheless, a nationally coordinated approach to RDRs should be investigated given the particular benefits RDRs offer, such as access to research and the monitoring of new disease-modifying treatments.
罕见病登记处（RDR）通过汇集小数据集来监测罕见疾病，从而增加对罕见疾病的临床和流行病学知识，并促进以患者为中心的最佳实践。本研究的目的是了解澳大利亚 RDR 的现状、捕获的数据、对患者结局的影响、资金模式以及在建立和维护方面的障碍和促进因素。
采用探索性顺序混合方法设计。首先，通过在线和消费者团体（罕见之声澳大利亚（RVA））联系生成了一份澳大利亚 RDR 清单，包括主要联系人。对 74 个已确定的澳大利亚 RDR、88 个 RVA 合作伙伴、17 个制药组织和 12 个 RVA 科学和医学咨询委员会成员的登记处保管人、经理或主要研究者进行了横断面、匿名在线调查。接下来，邀请参与调查的 RDR 经理和协调员以及数据库的经理和协调员参加半结构化访谈。使用基本描述性统计和内容分析分别对定量和定性数据进行分析。
40 个 RDR 对调查作出了回应；9 个是国家级的，5 个是在澳大利亚和新西兰的，其余的是全球性的。在 40 名调查应答者中，有 8 人接受了访谈。大多数 RDR 都收集了关于患者特征、合并症和临床特征、诊断、家族史、基因检测、程序或治疗类型、对治疗的反应以及治疗并发症的类似信息。改善治疗结局、改变治疗过程和提高治疗质量是 RDR 最常报告的益处。当被问及未来在澳大利亚简化 RDR 的潜在选择时，参与者确定了机会和挑战。
本研究的结果强调了基于个体疾病的数据集显著的异质性，以及澳大利亚当前不同 RDR 之间缺乏互操作性和协调性。然而，鉴于 RDR 提供的特殊益处，如获得研究和监测新的疾病修正治疗，应考虑采用全国协调的 RDR 方法。
