At the 2019 World Orphan Drug Congress USA, Christopher P. Austin, MD, the director of the National Center for Advancing Translational Studies (NCATS) warned that rare diseases are a public health issue for a broad number of reasons.
Dr. Austin also contended that the word “rare” itself was problematic. This was a sentiment echoed by Arndt Rolf, the CEO of Centogene, a German genetic diagnostic testing company, another speaker at the conference, who suggested that we should call rare diseases “frequently missed diseases.”
Why a Public Health Issue?
If a disease is rare, why is it a public health issue?
The speakers at the conference explained that those who needed medical help were not getting it because of frequent misdiagnosis.
They were also not getting the financial help they needed from the public health care system because large insurance companies and government health care officials did not understand the actual costs of researching or treating rare diseases.
In essence, this dangerous neglect occurred because many doctors frequently did not recognize a rare disease and policymakers did not factor in the high cost of rare diseases when preparing the budget for the national health care system.
Vague Definitions Across the World
The definition of a rare disease is not at all clear.
According to an article covering the highlights of the conference in Muscular Dystrophy News Today, the government health care agencies in different countries classified a rare disease by the number of people it affected in a population.
In the United States, the Food and Drug Administration (FDA), said they considered a disease rare if it affects less than 200,000 Americans while in Europe the European Medicines Agency said they considered a disease as rare if it affected 1 in 2,000 people.
What Is a Rare Disease?
In his talk, Dr. Austin said that researchers had identified about 7,000 rare diseases with 250 new ones being discovered every year. He also said that genetic mutations caused about 80% of them.
A rare disease, also called an orphan disease, is one that affects only a small percentage of the population of a country. Since most of these diseases are genetic, they have some unusual characteristics.
One characteristic is that there is such a diverse range of symptoms between them that it is difficult to distinguish a genetic disorder from other types of conditions.
Another characteristic is that there is such a diverse range of symptoms between individuals with the same genetic disease that it is difficult to recognize that they pertain to the same type of genetic mutations.
Rare diseases don’t just affect the lives of individuals but also whole communities, impacting family, friends, caretakers, neighborhoods, and schools. They also have an influence on the health care system and other social support systems in a society.
Misdiagnosis Is Common
Since rare diseases are seldom encountered in clinical practice, many doctors do not take any specialized medical courses or attend scientific conferences to stay abreast of new classifications, diagnostic guidelines, or approved treatment options.
Many busy doctors simply assume that since they are unlikely to come across patients with a rare disease, they should focus on improving their medical skills around more frequently seen illnesses.
The result of this widespread unfamiliarity with the understanding of the epidemiology of rare diseases means that most physicians misdiagnose them.
Since a misdiagnosis is far more common than an accurate diagnosis, the symptoms of a rare condition could persist unabated for decades because every doctor a patient sees is equally baffled by the unusual symptomatology.
As a consequence of this accidental neglect, patients do not get the treatment they need in time and their symptoms progress to a dangerous stage.
The Problem Is Getting Worse
All the problems associated with the treatment of rare diseases have been getting worse over the years.
Researchers are not getting the funding they need to run clinical trials; doctors are not getting the information they need to improve their diagnoses; hospitals are not getting the resources they need to assist patients; and patients are not getting the approved treatment they need to manage their symptoms.
Clear Goals for the Next Decade
Besides outlining the major obstacles in coping with rare diseases, Dr. Austin suggested three goals for the next decade:
- Patients should be correctly diagnosed within a year if their symptoms have been mentioned in medical literature. In those instances, when the attending physician cannot recognize the symptoms, their observations about the unknown disorder should be entered into some kind of global diagnostic database.
- Medical authorities should approve at least a thousand new therapies for recognized rare diseases if there are still no approved options.
- Researchers should develop new methods to test diagnoses and treatments.
With these goals in mind, patients suffering from rare diseases and their families might finally have a fighting chance.
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