A more accurate count of rare diseases and steps to getting counted.
The Power of Being Counted Report uncovers rare diseases that were previously uncounted, unrecognized, and therefore, below the radar of clinical research teams working to discover new treatments. It includes insights from more than 20 notable organizations and individuals in the rare disease community. In addition to the analysis, the report outlines steps patient communities and researchers can take to share data and published research to ensure diseases are entered into knowledge bases to enable the discovery and development of better treatment and support for their diseases.
Governments, nonprofits, and industry organizations involved in rare disease research often state that there are 7,000 rare diseases. Or they estimate the number to be between 5,000 to 8,000. The sources of these estimates are challenging to identify, given the circular nature of citations among the groups repeating these figures. What’s more, these estimates have remained static for more than a decade even though nearly 300 new rare genetic disease descriptions are added to principal knowledge bases each year. It defies reason that so many new rare diseases are discovered from year to year while the estimate used to characterize the realm of rare diseases remains unchanged.
Getting a true count of rare diseases is complicated for several reasons. Among those are the inconsistent ways that rare diseases are defined around the globe and the differing standards and measures various knowledge bases apply before identifying a rare disease. Recent efforts by the Monarch Initiative to count rare diseases using a computational approach to harmonize major knowledge bases found that the count may exceed 10,000 conditions. Still, many academics and advocacy groups seem hesitant to embrace this updated figure.
This reluctance to use a more accurate number has cascading effects. This artificially low estimate fails to represent the full spectrum of the rare disease community. It also fails to describe the true socioeconomic impact on the lives of patients, families, and society. Policymakers using incomplete or inaccurate information will allocate limited resources in ways that disadvantage these invisible communities of patients. An artificially low estimate also undermines advocates seeking regulatory changes needed to address the special needs of rare disease communities.
RARE-X set out to get a more accurate count of the actual number of rare diseases. Its analysis, which is laid out in this paper, found that there are as many as 10,867 rare diseases, including genetic and non-genetic diseases. For the study, the authors divided the world of rare diseases into four distinct buckets: conditions for which treatment is available, conditions that are considered diagnosable because there are genotypic and phenotypic descriptions (even if more research is needed), conditions that are poorly defined, and conditions that are not currently recognized in major databases. Of those buckets, 8,640 (80%) are theoretically diagnosable, and 2,227 (20%) are so poorly defined that they may not be clinically actionable. We identified just over 500 counted disorders for which a treatment option is available. Treatments may include a dietary change, medical device, surgery or therapy. While the majority of the conditions for which treatments are available are for conditions considered diagnosable, there were some outliers for rare cancers and infectious diseases that are poorly described in our primary sources, OMIM and Orphanet, yet a treatment was identified.
Thousands of conditions already included in rare disease knowledge bases are excluded when we repeat the 7,000 estimate. Countless conditions have yet to be included in these disease compendiums due to their novelty, inadequate disease description, or resource constraints of expert panels who curate these knowledge bases. Unless a disease is included and described in a principal rare disease knowledge base, it is unlikely to be diagnosed, even by the best specialist. That can have life-threatening consequences as rare diseases are frequently progressive and disabling. Rare diseases that aren’t adequately accounted for are unlikely to attract research interest and funding to understand a disease’s etiology, new approaches to medical management, and possible treatments.
The purpose of this report is to present a more accurate rare disease count that is easily understood and resonates with patient communities. Our methodology was developed to ensure that everyone is counted, while also attempting to avoid double counting diseases that may be known by different names in different knowledge bases. We’ve also attempted to characterize rare diseases based on the robustness of the disease descriptions.
There is a path that most rare diseases follow that take them from obscurity to a condition that is well understood, readily diagnosed, and treated. Inclusion in the knowledge bases of rare diseases is the first milestone on this path. If it can’t be named and adequately described, it is unlikely to be studied by researchers, attract necessary funding, or enable the formation of a patient community.
Far too many patients and their families suffer because they are lost in a system that doesn’t recognize their condition. Their disease may be so novel that it has never been seen before, or it may affect a small handful of patients around the globe. For these patients and their families, inclusion of their disease in the medical knowledge bases brings with it the hope that others who similarly suffer, now or in the future, may at last be diagnosed, connected to a community, receive the appropriate care, and one day find a cure.
In performing this count, we have identified steps that patients and families can take to ensure that their conditions of interest are not only included in the primary knowledge bases but are well- defined, clinically actionable, and attractive to researchers.
As a result of this analysis and that of the Monarch Initiative, it is time for the rare disease community to recognize the significant undercounting in oft-quoted numbers and adopt a more accurate description of the actual number of rare diseases that exist. It is time for all rare disease patients to demand they be counted. Doing so is the first step along the path from diagnosis to a cure.