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.

The Survey

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.