Recent qualitative research has shed light on the diverse routes to diagnosis experienced by members of Raremark’s patient communities. It has also revealed which types of healthcare professionals typically miss opportunities to make a timely diagnosis, pointing to gaps in the system that could be addressed by educational initiatives.

“Early rare disease-focused training for doctors is just starting to gather pace, and we expect its impact to be felt in the years to come,” said Pete Chan, Head of Research & Analysis at Raremark. “The missing piece to date has been insights direct from the patient community about their lived experiences.”

Raremark’s white paper, A new approach to shortening the diagnostic odyssey, also discusses the key challenge of persuading doctors to believe what their patients tell them. Failings in this area may lead to patients having their conditions dismissed, services being withheld, and timely referrals to other specialists not being made.

Pete added: “We hope the insights we’ve generated through our latest work will lead to physicians’ acceptance that rare disease patients have valuable experience to complement their own medical training.”

Download A new approach to shortening the diagnostic odyssey.