Methods for estimating rare disease prevalence

A new article has been published in Rare Disease and Orphan Drugs Journal, providing an overview of the different methods for estimating the prevalence of rare diseases (RD). Most RD lack reliable epidemiological data, which poses challenges for therapeutic and management options. Furthermore, epidemiological research on RD typically relies on national patient registries, which are not always available. These challenges are exacerbated in low- and middle-income countries, where estimates are either absent or data from high-income countries is used as a proxy.

In this article, the authors review the most common methods currently used to estimate prevalence and incidence for genetic RD. They identified retrospective study designs as the most commonly-employed method. Following this review, they proposed a decision aid for epidemiologists to be consulted when formulating study methodologies. This flowchart can help researchers identify data sources and prevalence measures of interest.