Providers' biggest challenges with rare diseases

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By Danielle Johns

While a rare disease might sound like something that doesn’t affect many people, more than 300 million people worldwide live with a rare disease.

On National Rare Disease Day, an event hosted by NORD, we wanted to explore the challenges healthcare providers face in the rare disease space.

In 2021, we surveyed 150 providers to get their insights on the biggest struggles they face. You can find the full results of the survey in our "2021 rare disease study", but let’s take a deeper dive into what the findings mean for improving access to care and treatments for patients with rare diseases.

Lack of education is a top barrier to treating rare disease

In the U.S., a rare disease is defined under the Orphan Drug Act of 1983 as a condition that affects fewer than 200,000 people in U.S.  According to the NIH, more than 7,000 rare diseases exist, though that number may be higher given challenges with tracking data related to rare diseases.

When you realize how small the patient population is for each disease and how many possible rare diseases exist, it's no wonder providers cite lack of disease education and awareness of symptoms related to rare diseases as top challenges they face today.

Only one-third of providers highly rated their organization’s ability to diagnose rare diseases and even fewer felt confident in their organization’s ability to treat rare diseases.

Providers deal with chronic conditions on a day-to-day basis, but they just don’t see as many patients with rare diseases. Because they’re unlikely to see many of these patients, they don’t receive the training and education necessary to recognize symptoms and understand treatment options.

Additionally, clinical research for rare diseases is scarce. Many life sciences companies don’t develop treatments for such small patient populations. Because of this, 95 percent of rare diseases have no available treatment options. However, the Orphan Drug Act of 1983 encourages new drug development for rare diseases and over 5,000 drugs have received orphan drug status as a result.

Shortages of physicians and healthcare organizations specializing in rare diseases present challenges for patients

Another top challenge facing providers in the rare disease space is the lack of physicians and healthcare organizations with specialized expertise.

Given how many rare diseases exist, it can be a challenge to find physicians who specialize in a patient’s specific condition. While they’re grouped together under the umbrella of “rare diseases”, each disease presents differently and may require special expertise to diagnose and treat.

Unfortunately for patients and providers, there is no set list of rare disease experts, so many patients bounce from provider to provider looking for answers. If a patient has been diagnosed with a rare disease, they often require a care team of multiple specialists to aid with treatment.

The list of specialties from our survey respondents reinforces this challenge, as it represents a wide range of specialties.


Fig. 1 - Graphic representing the top specialties of respondents from the "2021 rare disease study"

What can be done to overcome providers’ hurdles with rare diseases?

Despite all the challenges providers face with rare diseases, there is still hope for patients with these conditions.

Raising awareness of the prevalence of rare diseases through events like Rare Disease Day can help generate funding for research initiatives and facilitate greater collaboration between global organizations to support patients living with these conditions. This in turn can improve education for providers and increase collaboration among physicians to overcome some of their current hurdles.

Additionally, scientific advancements, particularly in the field of genetics and precision medicine, have the potential to massively aid providers’ abilities to diagnose and treat rare diseases. You can learn more about how genetic testing impacts healthcare in our podcast episode featuring Kamal Gogineni and Dr. Rakesh Patel

In our survey, providers indicate that next-generation genomic sequencing and increased use of geneticists or genetic counselors could have a positive impact on the rare disease space in the next five years. Since the majority of rare diseases are tied to genetic mutations, better genetic tests and further understanding of genetics could aid providers greatly in their work with rare disease patients.

Learn more

Want to learn more about physicians’ challenges in the rare disease space?

Check out our full 2021 rare disease study or our infographic for an in-depth breakdown of the results of our 150-provider survey on the challenges and opportunities they associate with rare diseases.

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