Communication gaps, preventable delays and limited support place significant responsibility on patients on the rare disease journey, a new survey finds.
The survey (PDF) was conducted by PANTHERx Rare, an independent specialty pharmacy focused on rare diseases, alongside Morning Consult. It was fielded this month and reached 226 patients, providers and payers. The results, released ahead of Rare Disease Day on February 28, capture the real-world experiences of stakeholders in the rare disease community.
"Rare disease is no longer a niche area," Richard Faris, Ph.D., chief commercial and clinical officer at PANTHERx Rare, told Fierce Healthcare in an emailed comment. "It's becoming central to how the industry grows."
And 90% of patients and caregivers said they feel personally responsible for pushing to receive personalized care, and more than half say they are most often the ones figuring out next steps in their care journey. Only a third have dedicated coordinators.
“As therapies become more specialized and care journeys more complex, coordination and communication play a much bigger role in whether patients can access and stay on treatment," Faris said. "From my perspective, aligning clinical realities with commercial strategy means recognizing that coordination isn’t just an administrative ‘check the box’, it’s a core part of access and outcomes in the rare disease space."
Patients are often waiting for clarity about their journey, the survey found, with 68% of patients and caregivers waiting for answers from doctors, pharmacies or insurance. Six in 10 report repeating the same information to multiple stakeholders and facing delays in hearing back about insurance coverage or approvals.
While most patients feel overwhelmed during diagnosis, fewer than 10% face no barriers during diagnosis or when trying to start treatment, even when patients receive care, 47% feel their support is generic and not personalized to their situation.
Nearly three-quarters of healthcare professionals and patients agree that it’s not always clear who is responsible for coordinating care for patients with rare diseases. Nearly three-quarters of patients and caregivers reported that having dedicated coordinators and seamless coordination would be very helpful.
"The findings point to the need for more personalized, longitudinal approaches that emphasize continuity, clear responsibility, and proactive advocacy throughout the care journey," Faris said.