Data-centric nonprofit RARE-X recently announced that in the development of its “The Power of Being Counted” report, it has discovered that there are many more rare diseases than previously thought. Though governments, industry organizations, and even other nonprofits are keen to cite an outdated estimate in the 5,000 to 8,000 range, the roughly 300 new rare genetic diseases recognized discovered each year seldom find their way into the larger conversation. To be included in the “rare” category for the U.S., a disease or condition must affect fewer than 200,000 individuals.
“Ensuring that the true magnitude of rare diseases is understood is critical,” said RARE-X’s Chief Executive Officer, Charlene Son Rigby. “If patient communities, researchers, drug developers, and policymakers are to address rare diseases, it’s essential to understand the magnitude of the problem.”
Using the Online Mendelian Inheritance in Man (OMIM) and Orphanet as primary sources for disease entries, as well as consultation from the FDA’s Office of Orphan Products Development site, DrugBank, and Genome to Treatment studies, the authors of the new report have put together a reproducible method of accurately calculating the current number of rare diseases. As a means of avoiding duplicate tallying, they also weighed the inclusion of all rare diseases (sensitivity) against their definitions (precision). The final analysis pointed to the presence of as many as 10,867 genetic and non-genetic rare diseases.