Market research in rare disease – a multidimensional approach

by Sarah Tucker, Research Director, 7i Group Ltd

A shift in the landscape…

As a professional healthcare market researcher, over the last 15 years I have witnessed two key changes across our industry; firstly, a shift in how market research is conducted from traditional methods towards more diverse , innovative and technology-driven methodologies, and secondly, a shift in the pharma landscape from blockbuster drugs for common conditions to a focus on a larger number of less common conditions, from which rare diseases are gaining increasing attention.

‘The definition of a ‘rare’ disease differs geographically, with a disease or disorder defined as rare in Europe when it affects fewer than 1 in 2000(1), whereas in the USA it is defined as a rare disease when it affects fewer than 200,000 Americans at any given time(1) Although these are ‘rare’ conditions (the general awareness and acknowledgement of rare diseases  is growing, and collectively they do occupy a significant space in the market), there are actually between 6,000 and 8,000 known rare diseases overall and around five new rare diseases are described in medical literature each week(2).

On average, it can take 8 years for a patient with a rare disease to obtain an accurate diagnosis.(3) This is one of the many factors that can contribute to the feelings of isolation that people with a rare disease often express, and also highlights the needs for further research and healthcare advancements.

There is considerable work to be done from a pharmaceutical perspective as more than 90% of rare diseases are without an FDA approved treatment(4) and approximately 50% of rare diseases do not have a disease-specific foundation supporting or researching the rare disease(5). This has led to the introduction of the Orphan Drug Act(6), which in turn has driven an increase of pharma activity in orphan/rare diseases and therefore our need to understand patient, caregiver and healthcare professional needs both thoroughly and quickly.

The challenges that rare disease research poses…

It is safe to say that improving patients’ lives is a key driver for those who choose to work in healthcare, and by that we mean improving the lives of all patients, not just those with more common conditions. As a passionate researcher, I find this increasing need to expand our understanding of the rare disease space very exciting, but crucially we all (working in healthcare in one shape or another) need to identify how to move our industry forward in this space.

However, conducting market research and generating insights into rare disease to support pharmaceutical companies does pose several challenges:

  • With a small respondent universe how can we ensure that we are gaining adequate sample sizes to be confident in the insights generated?
  • How can we balance this with not over-researching respondents to ensure fresh insights and fulfil our ethical duty to the patients and caregivers themselves?
  • How can we ensure that the right patients are top of mind for the specialists and other HCPs given that they often manage several patient conditions of which the rarer diseases are a minority?
  • How do we do all these things (and more!) in a way that is cost-effective and achievable within a reasonable timeline, avoiding an expensive project with little return?

A multidimensional and sensitive approach…

In our view here at 7i Group, using market research for effective insight generation and healthcare solutions in rare disease warrants a different and more novel approach than insight generation for the more common conditions with a high number of easily accessible respondents; we think that it is very important to apply a personalised strategy for each individual rare disease and each individual client’s objectives. This strategy maximises effective sampling and fresh insight generation. When conducting rare disease research with patients, caregivers or HCPs, we recognise not only the value of capturing a snapshot in time, but also the importance of taking a longitudinal approach. We also believe that a multidimensional approach may be required, which potentially encompasses a mix of methodologies to suit the needs of our clients. This is where the increased diversity of research methods that we now have in our toolbox, along with our innovative and strategic thinking towards offering solutions, not just generating insights, comes into play.

Technology enables us to better access these small universes of respondents. For example, social media listening or online analysis of public forums can help widen the pool of respondents, reduce over-researching of small patient, caregiver and HCP universes and generate valuable and fresh insights. However, maintaining traits from the more traditional methods (such as retaining a visual contact in teleweb interviews to build rapport) is also very important, particularly with patients and caregivers, and also helps to preserve the sensitivity required when facilitating, what are often, emotionally charged discussions. Careful consideration should be given to each specific rare disease area with methodologies proposed that are sensitive to the condition, as with any market research. Where possible, it is also valuable to bring these patients together, whether that be virtually or face-to-face, to help decrease the sense of patient isolation. Equally, looking at other avenues such as reliable social media and online listening and analysis can give broader, richer insights from a wider pool of patients and avoid over-researching respondents.

Given that research in rare disease tends to take longer than that in more common conditions, being flexible and seamlessly adaptable to our clients’ changing needs and objectives is also crucial. This needs to be built into the research design so as not to disrupt the experience for the respondents.

In summary…

The pharmaceutical landscape is continually changing and evolving; this requires novel thinking and new approaches. As researchers, we need to think differently about how we conduct market research effectively in the rare disease space to ensure we generate valuable and fresh insights. We need to utilise the advancements we have in technology; however, we also need to take care to maintain robust traditional methodology traits. We also have a duty of care to the patients and caregivers themselves in this area, both in terms of contributing to the advancement of healthcare in their rare disease and ensuring that this is done with respectful sensitivity.

This is an exciting time in both worlds of pharmaceutical healthcare and market research, let’s make rare disease research commonplace within our industry!

7i Group at the forefront…

7i Group is at the forefront of scientific insight generation and our experienced and enthusiastic team are dedicated to taking an innovative and solution-focused approach to generate robust, valuable and fresh insights; we are a true strategic partner for our clients.

To find out more about our approach to rare disease scientific insight solutions contact or visit our website at

The 7i Group team has experience across several rare disease areas, including acromegaly, haemophilia, Huntington’s disease, sickle cell disease, ulcerative colitis, Crohn’s disease, SMA and many more. Please contact us for case studies.


  1. last accessed 1st July 2019
  2. last accessed 1st July 2019
  3. last accessed 1st July 2019
  4. last accessed 1st July 2019
  5. last dated 2019, last accessed 1st July 2019
  6. last updated August 2013, last accessed 1st July 2019