Increased education of healthcare providers could improve treatment of rare disease patients, according to recent study.

According to an online survey, conducted by Definitive Healthcare, a healthcare commercial intelligence company, healthcare providers involved in diagnosis and treatment of rare diseases believe that increased education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years.

The survey, which was conducted from November to December 2021, sought to better understand the challenges healthcare providers face in diagnosing and treating rare disease patients.

Survey respondents were healthcare providers with a diagnosis claim for at least one of more than 142 rare diseases and who also reported experience diagnosing or treating rare diseases. One-hundred and fifty professionals from 128 healthcare organizations and hospitals responded to the survey, with top primary specialties of respondents including family practice, congenital and genetic diseases, internal medicine, pediatrics, neuroscience, oncology, and radiology.

The survey sought responses to three main topics: current challenges faced by providers when diagnosing and treating rare diseases, how well are organizations equipped to diagnose and treat rare diseases, and factors that would have the greatest positive impact in addressing rare disease today and in the next five years.

Top 5 challenges
Consistent with the small patient population for each disease, a lack of rare disease education and lack of awareness of rare disease symptoms were the most common challenges when addressing rare disease patients — reported by 40% and 39.3% of respondents, respectively.

Additional challenges, also cited by nearly 40% of providers, included shortages of physicians specializing in rare disease, limited facilities dedicated to rare diseases, and a lack of clinical trials for many disease areas.

Top 5 challenges healthcare providers face with rare disease patients (adapted from ALS News Today).

When asked about factors that could improve the rare disease space today, nearly half of respondents (48.7%) pointed out that collaboration with facilities specializing in rare diseases would have the greatest impact.

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

The role of education
However, increased education for physicians was the most commonly reported factor for improving rare disease diagnosis and treatment over the next five years — cited by 52% of respondents. More collaboration with rare disease facilities and next-generation genomic sequencing were also among the top three responses for future improvements.

Advances in genomic sequencing will drive costs down and make testing more accessible to patients, which can help providers better understand the conditions rare disease patients face.

Click here to download a free copy of the study.

Original article published on ALS News Today on March, 21, 2022
Photo credit: Freepik