Survey of Healthcare Providers Articulates What They Need to Improve Rare Disease Care

Definitive Healthcare launched a survey in November 2021 to help physicians, researchers, and the rare community understand what the biggest challenges are for providing a rare disease diagnosis and treating rare disease patients.

Considering that there are more than 7,000 different rare diseases which affect fewer than 200,000 individuals in the United States; research, diagnosis, and treatment are bound to be difficult.
The results from this survey demonstrate that by educating physicians more on rare diseases and increasing collaboration between specialized research centers, we may improve outcomes for rare disease patients.

The Survey

Definitive Healthcare is a healthcare commercial intelligence company, and this survey was a two-month investigation conducted online. To be eligible to participate in the study, respondents had to be a healthcare provider who had diagnosed at least one of 142 rare conditions. They also had to have some experience treating rare disease patients.
In total, 150 providers took the study, representing 128 hospitals. The greatest number of respondents represented pediatrics, internal medicine, radiology, neuroscience, congenital and genetic diseases, family practice, and oncology.

The Questions

This survey included three main groups of questions.

1.The challenges that healthcare providers most commonly face when trying to diagnose or treat a rare disease patient.

The results of this survey demonstrated that the most common challenges for physicians trying to diagnose and treat a rare disease patient were a lack of education on rare diseases (40% of respondents) and a lack of knowledge specifically regarding rare disease symptoms (39.3% of respondents).

Another common challenge was a shortage of providers who are rare disease specialists. Further, physicians noted having limited facilities which are strictly dedicated to rare diseases, as well as a minute number of trials for rare conditions.

Many of these challenges can be attributed to the fact that rare diseases are just that, rare. Physicians don’t see many rare patients, therefore, rare education isn’t prioritized.

2. Perceptions of how well healthcare organizations are equipped to provide rare disease diagnoses and treatments.

Approximately 1/3 of physicians felt “extremely confident” that their organization could diagnose a rare disease properly. However, just 26.6% thought they could adequately provide treatment for rare disease patients.

3. What provides the most positive impact on rare disease research and outcomes today and what could provide the greatest impact in the next 5 years.

48.7% of participants explicitly said that if they could collaborate with a facility which specializes in rare diseases, the impact on their own turf would be exponential.

Participants also hope to improve clinical trial participation, their reliance on genetic counselors, and collaboration with research organizations.

The most common response for what could make the greatest impact on rare disease care was increased education for physicians. 52% of respondents believed that increased education could significantly improve diagnosis and treatment outcomes for patients in the next 5 years.

The respondents also mentioned increasing the use of genomic sequencing and working to ensure this test is accessible for patients.

Ultimately, this survey demonstrates that if we can increase healthcare professionals’ education on rare diseases, as well as collaboration with institutes which focus on rare diseases, we may improve outcomes for the entire rare population over time.

You can read the entire study here, as well as more details on what it could mean for rare disease patients here.

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