New estimate of worldwide population affected by a rare disease at any point in time

A new article published in the European Journal of Human Genetics, and co-authored by Orphanet, Orphanet Ireland and EURORDIS, presents an analysis of the prevalence data in the Orphanet database and estimates that the number of people living with rare diseases between 263–446 million people in the world. The publicly available epidemiological data in the Orphanet database was used to carry out this analysis and the figures are derived from data from 67.6% of the prevalent rare diseases; the diseases analysed are rare according to the European definition and exclude rare cancers, infectious diseases, and poisonings.

The analysis of this dataset provides an estimation of the population prevalence of rare diseases of 3.5–5.9% of the population affected globally at any point in time.The authors highlight the policy implications of the paper. Indeed, it strengthens the rare disease community’s current discourse, that rare diseases affect millions of people and are thus a global health priority. Future registry research and the implementation of rare disease codification, notably through the introduction of ORPHA codes, in healthcare systems will further refine the estimates.

Ana Rath, co-author of the paper, Director of Orphanet, stated, “Even if these are the best figures we can obtain today, they likely underestimate the number of rare disease patients still not visible in healthcare and social care systems. Having a specific codification system for them in national systems will help obtain definitive figures and, more importantly, produce data needed to adapt healthcare systems”.

Yann Le Cam, co-author of the paper, Chief Executive Officer of EURORDIS and member of the Council of Rare Diseases International, commented, “Collectively rare diseases are not rare. The findings published in this paper support years of efforts from the rare disease community to advocate for the prioritisation of rare diseases as a public health priority that affects millions of people around the world, not just the few. No one can deny the significance of the global rare disease population anymore, a critical mass of people who have been the health orphans so far, with acute needs for healthcare, access to innovative treatments and a social system that supports their right to reach their highest potential of well-being”.

Eur J Gene 2019