The very name “rare disease” implies that the average person should expect to meet someone with a rare disease infrequently, if ever. Each individual rare disease in fact affects only a small portion of the human population.
Taken together, rare diseases as a whole affect millions of people worldwide. Those who have a rare disease share that distinction with millions, yet little else — including the proper treatments — may be held in common. Tools that streamline the delivery of available treatments to these patients can benefit them, no matter which rare disease diagnoses they have received.
The Need for Increased Rare Disease Drug Development
Different locations define rare diseases differently. In the United States, a disease is “rare” if it affects fewer than 200,000 people nationwide, or about 60 in every 100,000 individuals, writes Esther Crain at Johnson & Johnson. The European Union sets the limits of a rare disease at 50 per 100,000 people, while the World Health Organization defines rare diseases as those that affect 65 people per 100,000 or less.
Diseases designated rare among the population, but are not themselves a rare occurrence. The Orphanet database contained information on 6,172 separate rare diseases as of 2019, noted Stephanie Nguengang Wakap and fellow researchers in an article in the European Journal of Human Genetics. The researchers estimate that 263 to 446 million people worldwide have at least one rare disease at any given time.
Because the total count of rare disease patients depends on what is defined as a rare disease, these numbers may fluctuate. Identifying precise numbers of rare disease patients can be challenging. A better definition of “rare disease” can help prevent unintended exclusion of patient populations from attention and treatment for their conditions, write Melissa Haendel and fellow authors in a paper in the National Review of Drug Discovery.
Haendel et al. call for a refined definition system dependent on collecting more precise and comprehensive data about rare disease patients and the conditions they face. Tools that can focus on rare disease patients and gather this information can also help address other challenges in rare disease populations.
Overcoming Barriers to Rare Disease Market Access
“Collectively rare diseases are not rare,” says Yann Le Cam, a member of Rare Diseases International. Yet because members of this common group may have any of over 7,000 identified conditions, no one medical intervention can reach every member. Consequently, millions of people with one or more rare diseases find their needs underserved by both health and social systems.
Treatments for rare diseases are even rarer than the diseases themselves. Treatments currently exist for fewer than 5 percent of identified rare diseases, write JB Medical managing director Jonathan Belsey and fellow authors in a World Economic Forum white paper. This lack of treatment availability reflects how limited rare disease drug development targeting these conditions is and leaves many patients without options.
Even when treatments exist, high costs and limited prescribing and insurance coverage create significant barriers to rare disease market access. The total U.S. annual cost for rare disease diagnosis and treatment reached $966 billion in 2019, including both direct costs like prescription drugs and indirect costs like lost income, according to the U.S. Government Accountability Office. For individual rare disease patients, cost can be a prohibitive factor even when a targeted treatment exists.
Because treatments are scarce, identifying eligible patients with precision is a must to maximize the benefits of these treatments for those who need them. “Implementing means to record [rare disease patients’] precise diagnoses would make it possible in the future…to improve the adaptation of support and reimbursement policies,” says Ana Rath, director of Inserm US14, which runs Orphanet.
Data-driven solutions to identify eligible patients, provide affordability programs, and streamline distribution are essential for improving rare disease market access. No single data source provides the full picture. Linking clinical, genomic and outcome data across providers, pharmacies, payers and distributors can uncover new insights to advance rare disease drug development and access.
The Role of Specialty Pharmacy Data in Rare Disease Care
One way to gather important data about rare disease prevalence, target treatment and manage costs is by connecting patients with providers, payers, pharmacists and manufacturers on a single digital platform. Patients get a one-stop source to report symptoms and side effects, manage paperwork and communicate with their providers and other parties. Providers, pharmacists and payers can use the same tool to handle their own tasks more efficiently, getting treatment into the hands of patients or getting patients to the treatment event.
Specialty pharmacies can serve as crucial connection point for collecting real-world specialty pharmacy data on rare disease patients, treatments and outcomes. This data is invaluable for informing rare disease drug development and access strategies.
Individual cases of rare disease are indeed rare. Collectively, however, rare diseases affect tens of millions of people in the U.S. alone and hundreds of millions worldwide. A platform connecting all stakeholders puts the rare disease patient at the center and enables seamless data sharing and communication to optimize care.
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