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According to the results of a 2021 survey, healthcare providers involved in the diagnosis and treatment of rare diseases believe that increased training of doctors and collaboration with specialized institutions will have the greatest positive impact on treatment. of these diseases over the next five years.

Final health carea healthcare business intelligence firm, conducted the survey online from November to December 2021. The survey aimed to better understand the challenges healthcare providers face in diagnosing and treating patients suffering from rare diseases.

Eligible respondents to the survey were healthcare providers with a diagnosis request for at least one of more than 142 rare diseases and who also reported having experience diagnosing or treating rare diseases.

One hundred and fifty professionals from 128 health establishments and hospitals responded to the survey. The top primary specialties of respondents included family medicine, birth and genetic diseases, internal medicine, pediatrics, neuroscience, oncology, and radiology.

The questions included in the survey primarily covered three main topics: current challenges providers face when diagnosing and treating rare diseases, how well equipped organizations are to diagnose and treat rare diseases, and factors that would have the greatest positive impact in the fight against rare diseases today. and in the next five years.

In the USA, rare diseases are defined like any condition affecting less than 200,000 people in the country. According to the National Institutes of Health, there could be more than 7,000 rare diseases.

Consistent with the small patient population for each disease, lack of rare disease education and lack of awareness of rare disease symptoms were the most common challenges when caring for rare disease patients – reported by 40% and 39.3% of respondents, respectively.

Other challenges, also cited by nearly 40% of providers, included the shortage of physicians specializing in rare diseases, the limited number of dedicated rare disease facilities, and the lack of clinical trials for many disease areas.

Infographic courtesy of Definitive Healthcare

“Providers treat chronic conditions on a daily basis, but they just don’t see as many rare disease patients,” wrote Danielle Johns, public relations/analyst relations manager for Definitive Healthcare. blog post. “Because they’re unlikely to see many of these patients, they don’t get the training and education to recognize symptoms and understand treatment options.”

Additionally, about a third of participants felt extremely confident in their organization’s ability to diagnose a rare disease, but only 26.6% reported the same level of confidence when it came to treatment.

Definitive Healthcare Survey, Rare Disease Care |  infographic on how providers rate their organization's ability to diagnose and treat rare diseases

When asked what factors could improve the rare disease space today, almost half of respondents (48.7%) pointed out that collaborating with rare disease institutions would have the greatest impact.

Other common responses included experiencing patients with similar symptoms, collaborating with research organizations, greater use of the services of a geneticist or genetic counselor, and participation in clinical trials.

However, increased physician education was the most commonly reported factor for improving the diagnosis and treatment of rare diseases over the next five years – cited by 52% of respondents. Increased collaboration with rare disease institutions and next-generation genomic sequencing were also among the top three responses for future improvements.

Advances in genomic sequencing will reduce costs and make testing more accessible to patients, which can help providers better understand the conditions faced by patients with rare diseases.

“The Definitive Healthcare 2021 Rare Disease Study highlights the lack of educational resources for healthcare professionals and providers in this area,” said Todd Bellemare, senior vice president of strategic solutions at Definitive Healthcare, in an email to BioNews, publisher of this website. . “Although provider encounters with rare diseases are less frequent, the ability to diagnose and treat these diseases is a critical area of ​​focus.

“To improve care for patients with rare diseases, we need to focus on funding research initiatives and further facilitate communication between global organizations, which would improve education of providers and strengthen collaboration between them. “

Click on here to download a free copy of the study.