Creating doubt for earlier diagnosis of rare diseases

5 weeks to understand the thought process of healthcare professionals in the diagnosis of rare diseases.
Panash brought their unique perspective and methodology to our field of expertise. The insights, opportunities and recommendations they surfaced allowed us to plan for the next steps with more confidence.
Innovation manager @ PharmaComp

 🤫 For confidentiality purposes, we cannot disclose the name of our client and will refer to them as PharmaComp.

There are about 7,000 rare diseases known to man. A disease is classified as “rare” when it affects 1 out of 2,000 people. About 25 million people in Europe are affected with a rare disease, with 3 million in France alone. Nearly a quarter of patients wait more than 5 years to put a name to their disease.  

People suffering from rare diseases have a time-to-diagnosis which can span multiple years as multiple practitioners fail to pose a diagnosis with confidence.

We were contacted by a pharmaceutical company to help them better understand the diagnosis process of General Practitioners (GPs) and specialists during consultation.
They had spent 3 years conducting exploratory research on diagnostic wandering of patients suffering from rare diseases. 

The pharmaceutical company had a pretty good picture of the journey patients go through before they’re diagnosed, but needed evidence around the circumstances and struggles of healthcare professionals (HCPs) in the diagnosis journey.

To decide whether they would invest more effort in developing a solution for the patient-doctor relationship in the pre- and post-diagnosis phases of rare diseases, we helped frame and conduct a qualitative study to get to answers.

Sourcing HCPs

We devised our recruitment plan after carefully reviewing the important dimensions we needed to cover with the client. 

For instance, about half of known rare diseases affect children under the age of 5. This meant it was crucial to speak to paediatricians.

Another important recruitment criteria for us was to speak with HCPs who had diagnosed a rare disease recently enough that they could walk us through the different steps they had followed.

We worked with a specialised recruitment agency in the medical sector to source both patients and HCPs in context. The medical sector is a regulated one, with growing concerns around privacy and data processing, making it essential to partner with the right people.


Navigating the journey of doubt

One of the biggest challenges for GPs in the diagnosis of rare diseases, is the fact that they can see between 500-800 patients a month. This means consultations last about 12-15 minutes on average. There often isn’t a lot of time and space to think about the combination of specific symptoms that make some of the rare diseases out there.

Our work has been about digging deeper into understanding the mechanics of their thought process in this type of context and the levers of confidence in posing diagnosis hypotheses.

We wanted to understand the compounded effects that create the conditions for a medical practitioner to establish a rare-disease diagnosis, both external - time, access to training, access to multidisciplinary colleagues and internal - experience and awareness about rare diseases, mindset and willingness to challenge oneself, technological literacy, etc...

Those were key variables the teams at PharmaComp could then influence.

Reading between the lines

Part of our job is to build empathy with participants to get a better, more accurate understanding of their drivers, motivations, habits and anxieties.

Working with health care professionals often means we need to pay attention to what isn’t explicitly said in interviews, e.g. highly skilled HCPs who’ve studied and trained for over 10 years do not take kindly to being replaced by an AI when it comes to diagnosis.

Leaning on our expertise, we can then surface insights and opportunities that take into account these nuances in the stories we collect.


Our research yielded strategic and operational recommendations, new product development opportunities and design principles to consider when building out a solution to assist the earlier diagnosis of rare diseases.

Equipped with evidence we gathered, the client’s team was able to inform how they would influence stakeholders internally and change their product roadmap, so they could have a bigger impact on HCPs and patients alike.

We enabled them in deciding which target groups to focus on primarily, what part of the journey to address first with suggestions of how to do so.