Department of Pediatrics, USF College of Medicine, Tampa, FL 33612, USA.
Adv Exp Med Biol. 2010;686:87-104. doi: 10.1007/978-90-481-9485-8_6.
Patient registries are essential tools for public health surveillance and research inquiry, and are a particularly important resource for understanding rare diseases. Registries provide consistent data for defined populations and can support the study of the distribution and determinants of various diseases. One advantage of registries is the ability to observe caseload and population characteristics over time, which might facilitate the evaluation of disease incidence, disease etiology, planning, operation and evaluation of services, evaluation of treatment patterns, and diagnostic classification. Any registry program must collect high quality data to be useful for its stated purpose. Registries can be developed for many different needs, and caution should be taken in interpreting registry data, which has inherent biases. We describe the methodological issues, limitations, and ideal features of registries to support various rare disease purposes. The future impact of registries on our understanding and interventions for rare diseases will depend upon technological and political solutions for global cooperation to achieve consistent data (via standards) and regulations for various registry applications.
患者登记处是公共卫生监测和研究调查的重要工具，对于了解罕见病尤其重要。登记处为特定人群提供一致的数据，并可以支持对各种疾病的分布和决定因素的研究。登记处的一个优势是能够随着时间的推移观察病例数量和人群特征，这有助于评估疾病的发病率、疾病病因、规划、服务的运作和评估、治疗模式的评估以及诊断分类。任何登记处计划都必须收集高质量的数据，才能实现其既定目的。登记处可以为许多不同的需求而开发，在解释登记处数据时应谨慎，因为这些数据存在固有偏差。我们描述了支持各种罕见病目的的登记处的方法学问题、局限性和理想特征。登记处对我们理解和干预罕见病的未来影响将取决于实现全球合作的技术和政治解决方案，以实现一致的数据（通过标准）和各种登记处应用的法规。
