5 Hallmarks of Rare Diseases & the role of Digital

Written by
Mads Krogh Petersen
5 Hallmarks of Rare Diseases & the role of Digital

The fabric of rare diseases call for slightly different digital approaches by Pharma compared to those typically leveraged within common diseases. Here are 5 hallmarks of rare diseases and digital solution types which can be deployed to drive value for commercial players and the rare disease ecosystem at large.

1. “Forced” Patient Empowerment

As a broad movement Patient Empowerment is driven by societal changes impacting how we view authorities and is fueled by the democratization of access to (medical) information via the internet. There are typically numerous established HCP KOLs and a (relatively) easy availability of information about the disease and associated treatments within common diseases. By contrast, within rare diseases, KOLs are fewer and content often scarce, gated, or incomplete. This means it is a necessity, rather than an open option for the patient or caregiver to engage deeply and become an expert in the disease. This may be denoted “forced patient empowerment”.

The enhanced impetus behind Patient Empowerment is clearly reflected in the fabric of the online Influencer landscape comparing common diseases and rare diseases. In rare diseases, patients play an even stronger role as Key Online Influencers relative to common diseases. They pose questions, support and collaborate with other patients, HCPs, organisations and Payers at scale.

As a conclusion, a Patient Influencer Strategy treating patients as Experts, rather than as “interesting humans” featured in patient testimonials/cases holds momentous potential as Earned Media to raise awareness and understanding at a level beyond the reach of any commercial Paid Media rare disease communication budget.

2. “Leveled” Patient-HCP Relationship

Rare diseases and treatments are complex by nature, less documented, and varies between subjects. On their journey to diagnosis or for checkups, patients engage with HCP specialists (e.g. Cardiologist or Endo) who are motivated towards general knowledge within their fields of specialty rather than a specific rare disease. This means that the discussion in consultation becomes between equals. These can be difficult and uncomfortable dialogues for many doctors.

Education via Patient Conversation Simulations has proven productive in Vertic’s experience. There is a value in having frameworks delivered through digital channels to help the specialist in the facilitation of positive and constructive dialogues with vested and educated patients or caregivers. Usage has been accelerated by the simulations’ applicability across rare diseases and for engaging select “educated” patients within the given HCP’s specialty.

3. Urge to Connect

As information or data are not readily available, rare disease stakeholders instinctively reach out to each other for help. Furthermore, there is a distinct sense of isolation as a patient’s immediate support group will not know or understand the disease in question. This is why the connections they make with fellow patients or caregivers online thrive on a unique sense of powerful identification.

Improving patients ability to connect and the enhancement of these relationships is key digital opportunity for pharma companies.

4. Life Without Diagnosis

The time from first symptom through diagnosis to prescription is often extensive. Many rare diseases have the hallmarks of common diseases or have symptoms that are hard to attribute. According to a study, the average patient rare disease patient consults 8 physicians and receives 2 to 3 misdiagnoses before being diagnosed. On average, this takes 7.6 years.

RAC published a report showing the fraction of cases where the correct rare disease result appears in the top 10 and top 20 for different search engines is between 16% and 64%. The search is based on healthcare data, such as symptoms, entered by a user.

Working with Rare Disease Advocate groups in helping non-diagnosed patients to gather relevant real world data and optimizing web content to serve content accordingly would benefit the rare disease community at large by allowing the patient to “self diagnose”. See FindZebra as an example of a specialized search engine for rare diseases.

Most pharma companies have a long term vision to supply AI-based diagnostic tools for HCPs. However, patients should arguably be a primary target of such tool in rare diseases.

5. Complex Access

Access to orphan drugs is a contentious and volatile topic. Limited trials, variability between subjects, high costs and doubled approval requests from 2012 to 2016 in the US put pressure on the FDA and similar agencies across the world. However, as a case in point, the FDA increasingly emphasizes the role of patients in drug development and approval process. A structured collection of RWD alongside capturing and analyzing the perspectives of patient advocates and “ordinary” patients can both aid the approval process and provide input for new diagnostic methods and drug development. As a consequence, we see the omnipresent emergence of Digital Health departments and initiatives across commercial pharma.

In conclusion, whereas the working hypothesis of many rare disease companies is that digital transformation is somewhat less relevant to rare than common diseases, the above represent examples of how pharma can deploy digital to add value to themselves and to rare disease ecosystem of stakeholders.

Written by

Mads Krogh Petersen

President and Co-Founder

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