Many new treatments are a mix of science and technology, making them more complex to understand. But here’s the good news. In the rare disease space, adult patients, as well as caregivers of children, have an impressive capacity to learn difficult concepts.

We’ve had the pleasure of attending many patient and caregiver focus groups on behalf of our clients. We are struck by the drive and commitment of patients and caregivers – they roll up their sleeves and learn what they need to learn, so they can be the best advocates for their care. They seek information, learn difficult concepts and take charge of their health.

Unfortunately, many of these patients and caregivers have a lot of practice developing these high-level skills while going through a revolving door of specialists during their diagnostic journey. For them, this learning is not a luxury; it is a survival imperative.
While the outcome is helpful, it’s a struggle to get there because they must be advocates for their own diagnosis.

We need to give them the tools to do this more easily.

According to HealthyPeople.gov, adequate health literacy is a necessary foundation for self-advocacy. What’s more, it’s up to organisations to value health literacy and make it a priority to implement programmes to support health literacy. HealthyPeople.gov is referring to healthcare systems, but there is no reason pharma can’t be part of this mission. Promote health literacy now.

Rare diseases are difficult to identify. Aside from not being the first thing that is thought of, they also can share characteristics with more common conditions, or having heterogeneous presentations. However, for many rare diseases, all it can take is a simple genetic test to make a definitive diagnosis.

There are many reasons why genetic tests are placed closer to the end of the diagnostic cascade than the beginning. Challenges with cost and access, lack of awareness and understanding, the belief that the result will not affect clinical decision-making, and discomfort with potentially ambiguous results are common ones we hear about. The genetic test becomes a last resort when HCPs are out of other options and remain puzzled by patients’ symptoms.

But within the last decade genetic testing has changed dramatically. The price has decreased. There are many industry-partnership and lab-sponsored opportunities that remove several key patient and HCP barriers and offer testing with large multigene panels (as opposed to only the gene or genes of interest). There is a growing number of precision therapies for monogenic conditions changing the landscape in rare diseases.

But these developments alone will not change the practices and habits developed in the previous decades. Almost any or all specialties can be presented with a patient with a rare disease, so these behaviours must be addressed across the board.

It will take a large-scale, multi-stakeholder commitment to raise HCP awareness of the importance of and profound difference an earlier genetic diagnosis can make to patients and their families. It takes much work – in the US, state by state and in Europe, country by country – but this type of effort has been successful in getting rare diseases placed on newborn screening panels.

According to Global Genes, for those who have adequate access to healthcare, it takes an average of 7.3 years for a person [with a rare disease] to get accurately diagnosed after seeing seven or more clinicians. Imagine if the second clinician was one who championed genetic testing as an early way to rule a rare disease in or out.

Yes, you heard correctly, pharma marketers. Stop being laser-focused on your rare disease because providers can’t think that way and still remain good providers of healthcare. It’s time to see rare diseases through the eyes of clinicians, whether they are primary carers or the specialists to whom primary care providers refer their most perplexing diagnostic mysteries.

Physicians learn the differential diagnosis from day one of medical school. It’s how they sift through the myriad signs and symptoms to determine which tests to order that can be used to reach a confirmatory diagnosis. They see signs, evaluate symptoms and interpret test results. All education on diagnosing rare diseases should be provided in this rubric, and it should include all rare diseases that are relevant to the differential diagnosis.

For example, Gaucher disease, Pompe disease and lysosomal acid lipase deficiency all have a broad range of phenotypes and age of onset. Signs and symptoms are often non-specific, but there is considerable overlap. A case in point is that hepatomegaly can be a presenting sign of all three diseases. Educational programmes sponsored by multiple companies on common clinical presentations and the best approach to differential diagnosis should be the norm. If you go it alone, you will be quite lonely.

It may be too ambitious to educate the world on diagnosing a rare disease. But you don’t have to, particularly if the goal is to educate primary care physicians who don’t have the time to catch zebras. Instead, teach them when the best time is to make a referral and who they should refer the patient to. You can then devote more specific education to those referral specialties that have a more realistic chance of diagnosing a rare disease.

The forced reliance on telemedicine during the past two years has given rise to a new type of autonomous and confident consumer/patient who has learned to do more self-healthcare at home, without the aid of a healthcare professional (eg COVID-19 home testing). These types of patient feel more than capable of collecting genetic samples and sending them to the lab. They do not have to go to a lab or wait for a doctor’s appointment to get it done. While HCPs are still evaluating their outlook on the future use of telemedicine, it can certainly be utilised to spend the time to take detailed patient and family histories – garnering key information that can raise the index of suspicion for a rare disease.

If we can change the standard of diagnosis, we’re truly helping patients, not just having them help us. When we start from their mindset – what their symptoms are and how they can be resolved – we’re starting a conversation that will form the basis of a long-term relationship, beyond the transaction. Starting from their mindset is a singular solution in the midst of a systemic challenge.

Widening your view beyond your own experiences is one of the best ways to create more long-term benefits.

Kevin Flynn is Senior Vice President, Medical Services and Jaime Cohen is Vice President, Brand Strategy, both at PRECISIONeffect