Improving the diagnostic journey in rare disease

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Improving the diagnostic journey in rare disease

By Nareda Mills, Inizio Engage

Rare disease numbers are staggering no matter how you look at them. A rare disease is considered one that impacts less than 200,000 people, but in some cases, may impact only a handful of individuals. FDA estimates there are 7,000 rare diseases affecting 30 million, or one in 10 Americans, with about 500 FDA-approved treatments.1,2 According to the U.S. Government Accountability Office, the estimated total costs in 2019 for about 15.5 million people suffering with one of 379 rare diseases was $966 billion.3 Vision Research Reports predicts the value of the rare diseases treatment market will reach $336 billion by 2030.

If we look at the numbers alone, there’s a lot at stake. But behind these staggering numbers lies another story – the more compelling story of individuals struggling an average of 4.8, to as many as 8 years, along the arduous journey to diagnosis and treatment of their rare disease.4

The impediments to diagnosis

The journey with any disease starts with a recognition that something is wrong. In the case of rare disease, the cause is often genetic, and therefore, even harder to diagnose. From the initial onset of symptoms, patients suffering with a potentially chronic, life-threatening rare disease  face many hurdles to an accurate diagnosis and potential treatment. According to the GAO, these impediments can include:

  • An overall lack of knowledge about the disease and its symptoms among the physician population and the public. Patients might not even recognize disease symptoms until they become problematic to them. Physicians may misjudge the reports they hear from the patients about their symptoms and experiences.
  • There may be access difficulties to the proper specialist both in terms of geography and cost, as well as to the testing that may be necessary and whatever treatment is prescribed.
  • Ingrained biases on race, gender, or ethnicity that prevent the HCP from pursuing an accurate diagnosis.
  • The rare disease symptoms may overlap with symptoms of a known disease which can lead to misdiagnosis.
  • Multiple disease presentations where the rare disease manifests differently depending on the person afflicted.
  • Co-existing diseases can occur, obfuscating the rare disease underlying the symptoms.
  • Lack of available diagnostic tests due to the sheer rarity of these more than 7,000 diseases makes conclusive testing a challenge for most.
  • Inaccurate test results will lead to more testing and delays.
  • Misdiagnoses within the patient chart compound the issues in narrowing in on the actual rare disease occurring, and can create a vicious cycle of testing and further misdiagnoses.

The impact of rapid diagnosis

Rare disease takes a decided direct and indirect toll on those afflicted, their care partners and other family members. As pharmaceutical companies grapple with developing treatment, the necessity for rapid diagnosis is becoming increasingly apparent. The navigation of countless doctor appointments and tests, negotiations with payers, the stress and cost of travel to the specialist and treatment center, all create significant demands which can easily lead to grave psychological damage for the patient and family.

At a minimum, rare disease is challenging and disruptive to daily and family life. A 2019 NORD study showed that the rare disease toll on daily living is steadily increasing as shown in its impact on school and work, with 26 percent of those surveyed unable to attend school and 62 percent unable to work, in comparison to a 1989 study where the numbers were 5 percent and 23 percent, respectively.5

Although the very scarcity of rare disease makes it hard to definitively measure in terms of direct diagnostic and treatment costs, the costs of a delayed or missed diagnosis can be even higher, putting the individual at risk for disease progression, an increased risk of comorbid conditions and/or death. Improving the path to rapid diagnosis is paramount to reducing the human toll and financial impact of these rare diseases.

The diagnostic journey in rare disease

Image courtesy of Inizio Engage

Disease state education

One way the pharmaceutical industry is looking to improve the diagnostic journey of rare disease patients is by educating healthcare professionals (HCPs) about the diseases for which they are developing or have developed treatments. The goal is to educate HCPs in recognizing the presenting symptoms of the rare disease, enabling them to identify affected patients before they even know they have the condition. By providing this educational support, pharmaceutical companies aim to facilitate earlier diagnosis and treatment initiation, ultimately optimizing patient health outcomes.

The programs leverage clinical educators who have at least five years of experience after completing their nursing education. These clinical educators are selected based on their expertise in the specific therapeutic area related to the rare disease, their direct experience working with patients affected by the disease, or their familiarity with medical practices that serve patients with the condition.

By drawing upon this talent pool, the programs demonstrate credibility to the HCP office and the clinical educators calling on the practice have the empathy needed to best connect with the office staff. Unlike medical science liaisons who work solely with the physician prescribers providing clinical trial information and disease science, clinical educators work primarily with the nurses and medical assistants in the office to provide an overview of the disease and its presenting symptoms as these are the individuals most likely to initially engage with the patients and hear their stories.

Locating the appropriate HCP target offices for most rare diseases is a challenge. To identify practices that have treated patients with the assigned rare disease diagnostic code, as well as those who may have treated patients under the most likely misdiagnosed codes, it is necessary to purchase data from multiple sources. A focused educational plan is then established, prioritizing practices based on their history of serving patients with the specified presenting symptoms and those who may be misdiagnosing the condition and are in need of education.

Clinical educators typically provide educational sessions to an HCP practice once or twice a quarter or as there is an educational need, always with the goal of presenting something new. Following a modular approach to the presentation material, the clinical educator starts with a high-level overview using visual aids to get a conversation going on the disease and its presenting symptoms. A formal educational session that takes the information a step deeper usually follows with the wider medical staff within a practice.

There is also an opportunity to engage clinical educators in community advocacy. As trained educators in a particular rare disease space, they can effectively liaise with community-based advocacy and patient groups and their constituents to raise awareness of the disease and the unbranded programs, resources, support and services available to those afflicted with the diseases and their care partners.

In most pharma engagement programs, clinical educators are just one part of the cross-functional eco-system supporting the HCPs and patients, requiring strong, compliant coordination within accounts. With clinical educators providing this critically needed level of rare disease education and support, the office staff and HCP are more empowered to readily identify patients potentially suffering with the disease and proceed with the necessary testing to reach a diagnosis. This can eliminate years of the diagnosis journey for many of these patients, getting them into treatment sooner, and also potentially reduce the long-term effects of prescribed medications from misdiagnosis.   

A case in point

A recent case study demonstrates the overall effectiveness of a disease state education program with the HCP and office staff. In this assignment, clinical educators initially provided rare disease state education to the community. The problem was this approach was struggling with low program awareness and registrations for educational sessions in the first  five months as patients did not recognize that they could be suffering from the disease and their need to learn more about it.

To improve awareness, a shift was made to educate the HCP and office staff first and then offer community education programs to which patients could be referred by the HCP. This approach made the HCP and staff comfortable with the educational material that would be provided to the community, and increased their awareness of the disease and its symptoms so they could more readily identify patients with the disease. As a result, 97 percent of respondents from offices in the program reported they were very likely to refer a patient to an educational session, and 77 percent indicated an increased knowledge of the disease. A 2.5 times increase in patient referrals was seen in the first three months. 


  1. FDA. (December 13, 2022). “Rare Diseases at FDA.” Accessed March 21, 2024.
  2. NIH. Rare Diseases. Accessed March 21, 2024.
  3. United States Government Accountability Office. (October 2021). “RARE DISEASES – Although Limited, Available Evidence Suggests Medical and Other Costs Can Be Substantial.”
  4. STAT. “1 in 10 Americans have a rare disease, but few have treatments.
  5. NORD Rare Insights. (November 19, 2020). Barriers to Rare Disease Diagnosis, Care and Treatment in the US: A 30-Year Comparative Analysis. p. 9.

Nareda Mills is global president of Inizio Engage Patient Solutions.