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Anecdotes versus Evidence: Validating the Diagnosis Process

How long does it take to ascertain the correct diagnosis? Which doctors will patients see, and who will they be referred to next? These seemingly direct questions are often all too complicated in rare disease. The pathway is circuitous, and all constituents are desperately interested in the finding the answers sooner. Patients are often shuffled around without much guidance or reassurance that a meaningful diagnosis can be reached. Providers lack exposure and familiarity with rare diseases, leading to trial and error or passing the patients along to another who might know how to help. Everyone is frustrated: patients, providers, and advocacy groups.

If we could better educate providers about disease symptoms and triggers, perhaps patients could be diagnosed sooner, and begin appropriate treatment sooner as well. That’s exactly what the International Pemphigoid and Pemphigus Foundation (IPPF) had in mind. Pemphigus and pemphigoid are rare, autoimmune diseases that present in various ways and do not improve without active treatment. Patients typically see many different providers over a substantial period before finally receiving the correct diagnosis, which the IPPF saw as a major problem. With limited funds available for healthcare provider education and outreach, though, they were interested to know where to prioritize healthcare professional education efforts to shorten this time-to-diagnosis and create a better experience for the patients.

KJT Group was commissioned to design a quantitative survey for patients diagnosed with pemphigoid and pemphigus to answer three main questions: 1) How long did it take to be correctly diagnosed with pemphigus or pemphigoid?, 2) Which medical specialties did you see during the diagnosis journey?, and 3) Who accurately diagnosed you? KJT Group recruited a sizable group of 87 patients, who were already connected with the IPPF, to participate. Their responses were rich and descriptive, yielding robust data for a diagnosis pathway analysis. We found that while most patients seek medical attention within 3 months of their initial symptoms, they had to see an average of 5 physicians over nearly a year before receiving the correct diagnosis. With our data, were able to generate a succinct analysis of the most common referrals patterns, and the types of physicians who most often made correct diagnoses. Harnessed with this information, the IPPF was able to optimize educational efforts geared at streamlining the referral process, with the goal of achieving a faster diagnosis for patients.

Decisions about how to allocate limited funds to tackle a sizable and important problem must be made smartly. Although conducting a large-scale quantitative study within any rare disease space is a challenge, it is worthwhile! Rather than relying on qualitative anecdotes, having robust evidence to drive these strategic investment choices gives confidence the decisions will be impactful – ultimately improving the quality of life for rare disease patients.