Themes defining the rare disease landscape
Why it matters that rare diseases aren’t so rare collectively
Of the 452 medicines and vaccines in development with a rare disease classification (less than 200k patients in the US), 360 of them are in cancer or related (195), genetic disorders (85), neurological (32), infectious diseases (28) and respiratory disorders (20). Why does this matter? Because the amount of clinical data and promotional buzz generated by these is going to take up a lot of attention and time across major conventions, conferences, and the topics that KOLs talk about. Collectively, rare diseases impact 1 in 10 Americans, so the overall impact of disease and the discourse around treating them is quite significant. And it is estimated that 350 million people suffer from rare diseases worldwide.
The 80/20 rule for rare diseases and the importance of gene mapping
And 80 percent of rare diseases are genetic in origin. And 80 percent of all rare disease patients are affected by around 350 rare diseases* (there are around 7000 known rare diseases). Why this is important is that genetic testing, correlation, and awareness will rise dramatically and infuse the thinking around treatment of other non-rare conditions as well, as genetics conscious treaters emerge and the thinking around genetics and biomarker will likely permeate across most conditions — rare or not. And every year new discoveries in finding genes associated with diseases such as myotonic dystrophy, ALS, CF, progeria, neurofibromatosis, Alzheimers, depression, and others are being made.
Registries and global networks are key tools
The NIH NCATS (National Center for Advancing Translational Sciences) supported Rare Disease Clinical Research Network identifies 22 research groups and 98 patient advocacy groups that collaborate to advance clinical research and investigate new treatments. With 29000 participants and 2600 researchers, this initiative is meant to provide a backbone of data to frame emerging treatment methodologies. This outcomes orientation sets the tone for how providers, payers, and manufacturers view decision making and set benchmarks for successful management as well as R&D.
The need for specificity and scientific depth in communications in rare disease categories
Most of the rare disease treatments under development and in market are highly targeted therapies — from Kalydeco (ivacaftor) for treating CF patients with the G551D mutation to Adcetris (brentuximab vedotin) that targets the CD30 expressing tumor cells in Hodgkin lymphoma and systemic anaplastic large cell lymphoma patients, there is no way to communicate the impact of these and other emerging drugs without getting deep into the mechanism of action, which in many cases is the primary clinical asset. Given that the patients and often caregivers of rare disease sufferers are often more informed about the condition than the average primary care doc, this offers an interesting opportunity and challenge — to drive deeper participation between patients and physicians in the overall decision making process around how best to manage a condition while framing highly complex treatment choices. The oversimplification of communicating rules of repeating singular data points around efficacy and safety that drive much of general pharma marketing don’t apply. Contextualizing data and outcomes for a shared understanding (for the patient and physician), the impact on life — in terms of the quality, life expectation, and also the burden of treatment, including economic factors, are issues that need to be presented and framed together. The choices require balancing multiple factors across clinical benefits and life impact of the disease and the treatment that cannot be effectively made by the physician or the patient alone. While this sounds like a truism that should apply to managing all disease condition, it really is a far more critical need within rare diseases.
The power of peers and experts for both patients and physicians
Most rare diseases are treated by a few experts who typically live in large hospital systems considered centers of excellence for the category. The phrase “every case is a case study” in rare diseases means that shared experience in managing a rare disease — both on the side of the treater and the patient/caregiver, is invaluable. The intricacies of managing such conditions and the nuances of making treatment choices are themselves rare information assets that must be shared and thankfully, advocacy groups do a pretty good job of doing so for many conditions, and a collaborative mindset overall means that patients are far more likely to mentor other patients, and physicians are usually invested in sharing best practices and outcomes.
Patient reported outcomes as a pillar to build the future upon
When the incidence is low, as in the case of rare diseases, every case is a case study, and tracking the outcomes and treatment choices made become crucially important in advancing the management of the condition not just for the individual but for future patients. So it becomes important as a manufacturer and marketer of a rare disease drug that they establish and support outcomes tracking and also evolve the understanding of bio-markers associated with disease.
What it means to rare disease communicators: clinical depth, comprehensive management, and a collaborative approach
The needs around communications and marketing to rare disease patients and treaters require us to orient ourselves towards three key areas.
Clinical depth: a key success metric in any rare disease is to shorten the time to diagnosis and understanding of the disease. This can be achieved through simplifying the science, which is easier said than done since getting to simplicity is a complex process. But communicators need to be educated in depth around the science behind the condition and the treatment and that positions medical teams squarely in the mix.
Comprehensive management: supporting the totality of life on treatment means going beyond refill reminders and clinical education to looking at multiple touchpoints supported by peers, nurses, educators and advocates to constantly inform and service the patient journey.
Collaboration: the participation of treaters, patients and caregivers in all facets of the disease — from diagnosis to outcomes, is foundational to rare disease management and as communicators we have to embrace advocacy groups, the power of social media, and learnings from people’s experiences.
Rare diseases are collectively a huge challenge — but there is tremendous potential to reshape life with these conditions thanks to a rich pipeline and evolving platforms and technologies to connect people and data. As communicators, our job is to transcend an advertising mindset to one focused on value added engagement.
(for the *Source: The Global Genes Project, a program of the R.A.R.E. project
