Leave no one behind: Digital user research in rare disease

Digital user research in rare disease

Living with a rare disease can be a challenging experience. Patients often face significant challenges both physically, with complex symptoms that are difficult to manage, and mentally, through slow diagnosis processes and lack of available management guidance. 

Digital solutions have the potential to bridge care gaps for rare disease patients, ultimately raising the quality of care and improving outcomes. Accordingly, in the pharmaceutical sector there has been increased emphasis on developing digital engagement and support platforms for rare disease patients over the past decade. 

How can digital solutions support rare disease patients?

However, designing successful digital products for rare disease patients can be difficult, as data on patient experiences and needs is often sparse. This is where user research can provide clear direction for designing a digital solution that serves unmet patient needs:

  • Improving access to information: Digitally providing rare disease patients with access to relevant and up-to-date information about their condition can help patients make informed decisions and empower them to be more proactive in managing their condition. 
  • Support networks: By connecting rare disease patients to others going through similar experiences, digital solutions can strengthen patient support networks, which provide a sense of community and a place to share stories, seek advice, and find emotional support.
  • Telemedicine: Telemedicine products allow patients with rare diseases to consult with healthcare professionals remotely. This reduces the need for travel, assists patients with limited mobility or chronic fatigue, and makes it easier to access specialist consultants.
  • Personalised treatment: Digital solutions can help HCPs tailor treatment plans to individual patients, based on their unique medical history, symptoms, and lifestyle. This can improve treatment outcomes and reduce the risk of adverse effects, particularly given the complex comorbidities that affect rare disease patients.
  • Research and development: Digital tools can also contribute to R&D efforts by collecting vast amounts of data on patient experiences and outcomes to help organisations develop more effective and personalised treatments.

Patients hold the key: Experience matters

Those living with rare diseases often experience symptoms that are difficult to manage, and traditional treatments may not be effective. They may also feel isolated and unsupported as they navigate their condition. For these patients, digital products and services can provide a lifeline, connecting them with additional resources and support. 

However, the prevalence of rare and ultra-rare diseases means that, very often, the lived experiences of patients are ignored, leaving them with digital products and services that do not serve their needs. Effective user research that seeks to understand patient needs in context can help to address this. Here are some reasons why user research is critical in designing effective digital rare disease products:

  • Understand and account for unique needs: Patients with rare diseases often have unique medical needs and experiences. User research can help HCPs and digital product designers understand these needs, and develop tailored products and services. 
  • This was particularly important in a recent project partnering with a global biopharma organisation, for example, in which we used diary study techniques and interviews to investigate patient needs for self-monitoring of haemophilia B symptoms. By digging deeper into their lived experiences and how they currently manage symptoms — and not assuming their needs were similar to other patient populations — we were able to identify several key features for a digital solution that could be incorporated during the product design phase. 
  • Limited patient data: As rare diseases affect a small number of people, there is often limited data available. User research can help fill this gap by collecting data directly from patients about their experiences, symptoms, and preferences. 
  • In another recent project, we partnered with a specialty rare disease pharma organisation to conduct discovery research on how to support ultra-rare disease patients with a digital solution. Because this disease affects only one patient per million and is a complex hereditary condition, little-to-no research on patient experience has been published in the past eight years. This project provided an opportunity to not only guide impactful design for the digital support product in question, but to also add to the patient experience literature and significantly improve understanding of the patient experience.  
  • Patient-centred care and improved outcomes: By involving patients in the design and development process, product teams can ensure that their products and services are usable, accessible, and meet the unique needs of patients with rare diseases - putting them at the centre of care delivery.
  • Developing a better understanding of patient needs and incorporating them when creating products and services can lead to improved treatment outcomes, better patient satisfaction, and increased trust in healthcare systems and providers.
  • Empowering patients: Often, rare disease patients endure a delayed and psychologically difficult diagnosis process, involving a lack of information, stigma and social isolation, difficulty communicating their condition to others, and the emotional burden of a suppressed lifestyle and uncertain future. This can leave people feeling as though nobody understands them, with feelings of helplessness and hopelessness. 
  • Effective user research can empower patients by giving them a voice and an opportunity to share their experiences and perspectives, helping them to feel more in control of their care, more confident in their ability to manage their condition, and more engaged in their own health.
  • Representativeness: Due to lower disease prevalence, patient-focused research among rare disease sample groups can be highly representative and provide valuable insights into the unique challenges faced by the wider patient population. 
  • For example, for one project, we spoke with 17 US-based patients of an estimated 280 in the US in total; roughly 7% of the entire population. In contrast, if we wanted to speak with 7% of the patient population for type 2 diabetes in the US, we would have to interview around 2.6 million patients. 

This high representativeness can help us to build a much fuller understanding of the disease, its symptoms, and the impact it has on patients' lives across the population. 

What pharma can learn

The benefits of conducting effective user research in the rare disease space are far-reaching. Most crucially, user research helps pharmaceutical organisations learn about the realities of their patients, what it means to live with their condition, and how they approach their problems. From here, pharma teams can identify the types of information, features, and support that these patients require and develop more effective and relevant digital products. 

Additionally, conducting user research can help build trust and credibility with rare disease patients, who may be understandably sceptical of healthcare and pharma organisations. By engaging in a transparent and collaborative research process, organisations can demonstrate their commitment to improving the lives of rare disease patients and rebuilding trust with this population, improving patient engagement, and uptake and adoption of digital products and services. 

By incorporating feedback and insights into the design and development process, pharmaceutical organisations can enhance rare disease patient outcomes, improve the overall quality of care, and advance our understanding of these diseases.

A holistic approach to rare disease product design 

So, how to best approach product design in the rare disease space? We suggest a holistic approach that considers fundamental UX principles based on real user insight, deep stakeholder engagement, and appropriate product launch channels. 

By leveraging each of these areas, we unlock true potential to improve patient outcomes, empower patients, and rebuild trust.
About Jack Burton

Jack BurtonJack Burton is senior clinical UX researcher at Graphite Digital. He specialises in understanding the interactions that patients and clinicians have with digital health products and services to help design teams create effective, user-centred solutions. Burton leverages his background in health psychology to generate insights that can be used to inform evidence-based digital design, which improves user outcomes and provides confidence to stakeholders. He has recently led digital user research projects for organisations including CSL Behring, Pfizer, Amryt, Astellas, the NHS, and others.