More than 300 million people have a rare disease

Friday October 25th, 2019

More than 300 million people worldwide are currently living with diseases that are classified as rare, according to the first analysis of its kind.

The French research institute, Inserm, analysed epidemiological data from the Orphanet database to calculate a global estimate for the first time.

The research team, led by Dr Ana Rath, of Inserm US14 – Information and service platform for rare diseases and orphan drugs, found that out of the more than 6,000 diseases described in Orphanet, 72% are genetic and 70% start in childhood. Of the diseases analysed in the study, 149 are responsible for 80% of cases of rare diseases identified worldwide.

Dr Ana Rath, of Inserm US14 – Information and service platform for rare diseases and orphan drugs – who co-ordinated the analysis, said: "Given that little is known about rare diseases, we could be forgiven for thinking that their sufferers are thin on the ground. But when taken together they represent a large proportion of the population.

“Although rare diseases are individual and specific, what they have in common is their rarity, and the consequences which result from that.”

Created in 1997 by Inserm, Orphanet has transformed into a consortium of 40, mainly European, countries, which pool their available data on rare diseases taken from scientific literature. It is the most comprehensive resource in its field.

Dr Rath and her team examined the data available on the point prevalence of 3,585 rare diseases. Excluded from the study were rare cancers and rare diseases caused by infection or poisoning.

After harmonising the literature data, they estimated that at any given time, 3.5% to 5.9% of the global population – about 300 million people – suffers from these conditions. The findings are published in the European Journal of Human Genetics.

The authors say that when the numbers of people are combined, the "rare" diseases are not so rare, which means that public health policies at global and national level should be introduced to address the issue.

“In all likelihood, our data represent a low estimation of the reality,” said Dr Rath.

“The majority of rare diseases are not traceable in healthcare systems and in many countries there are no national registries. Making patients visible within their respective healthcare systems by implementing means to record their precise diagnoses would make it possible in the future not only to review our estimations, but more fundamentally to improve the adaptation of support and reimbursement policies.”

Nguengang Wakap S, Lambert D, Olry A et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics 16 September 2019

http://dx.doi.org/10.1038/s41431-019-0508-0

Tags: Child Health | Europe | Genetics | World Health

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