Educating Medical Professionals For That “Rare Encounter”

Written on Tuesday 28th February 2023

This article was first published in February 2023 in partnership with the Medical Affairs Professional Society (MAPS).

It can take years for patients and their loved ones to navigate a maze of symptoms and finally receive a rare disease diagnosis. This is often called ‘the diagnostic odyssey’ and causes significant physical and emotional difficulties for patients, inefficiencies for healthcare systems, and delays in the uptake of new innovations that could improve patient outcomes. Streamlining the diagnostic odyssey requires educating medical professionals to recognize “rare encounters” and engage these patients with precision and compassion.

To better understand how we, as Medical Affairs professionals, can educate healthcare professionals (HCPs) and others in the healthcare ecosystem for those rare encounters, Gavin Jones, Global Advisor Rare Disease at OPEN Health spoke with Lucy McKay, Chief Executive Officer of Medics 4 Rare Diseases (M4RD). In this discussion, they outline the following three key areas for educating HCPs to reframe their thinking in this area of medicine, guide them on how to recognize when a patient may have a rare condition, and support them in obtaining the best outcomes for their patients.

About Lucy:

"I am a second-generation rare disease advocate. My brother died of a rare genetic condition before I was born. My mum founded a charity to connect families and drive research on this condition back in the 1980s. Now my brother’s condition has a treatment. I have watched on at the sidelines as the prospects in rare diseases have changed enormously since my childhood. But one thing has changed very little – education for medical professionals. I know this because I trained as a doctor, and I experienced first-hand the way anything rare is marginalized in medical education."

1. Explore educational needs to deliver bespoke learning resources

We cannot simply think of “HCPs” or “nurses” or “doctors.” These labels represent a vast group of individuals with wildly different experiences and skill sets. When deciding what rare disease education to deliver, it is crucial that we understand the varying needs of the individual provider, enabling them to play their role in the patient’s care. This requires education that is appropriate, impactful, and tailored to the audience. We need to ensure each member engages in and understands their critical role and responsibility across the diagnostic, treatment, and management pathways if they suspect a patient has a rare condition.

Currently, most rare disease education is only in place to demonstrate a scientific principle such as a way to describe a metabolic pathway or a mode of genetic inheritance. However, when M4RD runs training events for doctors and medical students, we see that the majority cannot define what a rare disease even is. Thus, education on rare diseases needs to start basic: What makes a rare disease? How can you recognize a patient experiencing a diagnostic odyssey? What is the impact of having less data about a condition? How do care, treatment, and research differ in rare disease? And how can providers find support for their own work with rare disease as well as find support for their patients?

"The impact of the “hear hooves, think horse not zebra,” mantra, or “common things are common,” ingrains this knowledge gap because it’s essentially teaching HCPs that less prevalent conditions aren’t relevant to them. A lack of basic education about rare disease compounded by entrenched stigma contributes to diagnostic delays for those living with rare conditions."

2. Cocreate resources with the patient community to improve shared decision-making  

Medical education has traditionally followed the didactic/paternalistic paradigm of the practice of medicine, itself, in which “the doctor knows best.” This is understandable when the knowledge and experience of a clinician outweighs that of the patient. However, in rare diseases, the patient may in fact be equally or even more knowledgeable about the condition than most non-specialist doctors. This reversal in the balance of information can sometimes be challenging to the medical professional. However, from the perspective of Medical Affairs, patients experiencing rare disease are an important resource for the co-creation of educational materials, allowing these materials to represent expressed needs rather than the assessed needs (i.e., what is meaningful to patients and their families). Cocreating educational resources with patients and caregivers will help Medical Affairs professionals better prepare HCPs for the shared decision-making process with their patients, which is key to rare disease management and ensures that patients’ needs are being appropriately respected and addressed.

"Very few examples of rare disease education for HCPs address ‘rare disease’ as a discipline and a patient group with its own profile of unique needs. Once you listen to multiple stories from the rare disease community, you start to understand the common challenges they face. Their voices are the key to making an impact."

3. Connect diagnostic, treatment, and management pathways through creative and impactful education

Just as individual provider types require individualized education, so too do providers within a management pathway require education tailored to that pathway. This pathway-focused education also allows coordination, ensuring different stakeholders understand their roles and responsibilities along the patient journey. Harnessing multiple educational formats along with creative campaigns that are continually informed by feedback data (often termed omnichannel) will also lead to greater impact and results from educational programs.

"Patients need to receive appropriate and timely care from the very beginning of their rare disease journey in order to receive the full benefit of any treatment. This starts with healthcare professionals who believe them, recognize when a rare disease might be at play, and know what to do next."


It is clear that innovation and drug development are only half the story in delivering better outcomes to patients with rare diseases. HCPs educated to recognize when a patient has an undiagnosed rare disease will be equipped to take the most appropriate next steps, whether that's asking for advice, referring to a more specialized provider, or spearheading treating with accepted or emerging health technologies. Medical Affairs teams are critical for delivering this education and ensuring that it is put into practice before and beyond the point of prescription.


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