What do rare cancers and rare diseases have in common? (Guest blog)
28.02.22
Rare diseases and rare cancers are often viewed as two separate worlds. However, patients and families affected by these complex conditions face many of the same challenges. In fact, rare diseases and rare cancers are not mutually exclusive communities, they overlap.
The differences between the definition of rare diseases and rare cancers are subtle. Rare diseases are defined in the European Union as disease with a prevalence of fewer than 5 cases per 10,000 people. Rare Cancers Europe (RARECARE) defines rare cancers based on incidence, or the number of new cases per year. By this definition rare cancers are those with an annual incidence of less than 6 per 100,000 people.
Aside from that difference, rare diseases and rare cancers have a lot in common. The stories told by patients with rare cancers – or by the parents of children with rare cancers – echo those of the rare disease community. They share a sense of isolation as they struggle to get a timely, accurate diagnosis of a life-threatening or life-limiting condition.
There is a common struggle to access highly specialised care and the right treatment (for conditions where treatments exist). Like all rare conditions, progress on rare cancers is hampered by a lack of research. Clinical trials can be challenging due to the small patient populations and the limited number of centres with specific expertise. The absence of sustainably funded registries and databases further undermines researchers’ efforts to understand rare cancers.
While people with rare cancers may benefit from well-established oncology services, they also live with a ticking time bomb: the five-year mortality rate for rare cancers is 63.4% – significantly higher than for more common cancers (48.5%).
Time for action
Rare cancers make up 22% of new cancers and 24% of all cancer cases in Europe. Often diagnosed in childhood, prevention is not an option for most of these conditions. So, the question should be, what can we do to improve outcomes for the thousands of European families facing a rare cancer diagnosis today?
Rare Cancers Europe, a multi-stakeholder partnership, has set out a Call to Action which details the steps needed to transform how rare cancers are diagnosed and treated. Many of the recommendations would benefit both the rare cancers community and the rare diseases community.
For example, funding is urgently needed to boost research, along with action to adapt clinical trial designs to reflect smaller patient populations. To continue incentivising research for rare conditions, regulatory support for innovative medicines, and a favourable intellectual property environment are essential.
Recent history shows that policy decisions on orphan medicines and paediatric therapies can create an environment which stimulates research and rewards to deliver treatments that address significant unmet need.
Up to very recently, children who suffered acute lymphoblastic leukemia (the most common form of childhood cancer) and who did not respond to chemotherapy had only one option to survive: stem cell transplant (SCT). SCT is highly invasive and risky, with a fatality rate close to 30%. Thanks to the EU Orphan Drug regulation and to Pediatric regulation, first generations of innovative cell-based gene therapies have entered the market and second generations are in clinical development - making Europe a better place to live, full of hope for those in need of the next wave of biomedical innovation.
We must build on this progress.
Access to multidisciplinary care, delivered by specialists, has the potential to accelerate diagnosis and optimise treatment. The European Reference Networks (ERNs), which connect rare diseases and rare cancers experts around Europe, require continued support. Their capacity to ensure that knowledge travels – not the patient – has the potential to reduce inequality among the rare diseases and rare cancer communities. The ERNs can also be an engine for driving innovation in virtual care and the collection of registry data.
Harnessing momentum
The challenges facing people living with rare cancers are not new. However, the policy context has advanced significantly over several years, thanks to vigorous patient advocacy, the dedication of healthcare providers, political commitment, and industry innovation.
Today, Europe is well-placed to turbocharge the fight against cancers. Europe’s Beating Cancer Plan represents a singular moment in which cancer is top of the EU’s political agenda. In parallel, the EU Mission to conquer cancer reflects an unprecedented focus on research and innovation in oncology. A Flagship on Rare Cancer in Europe’s Beating Cancer Plan, sustained by the EU Mission to conquer cancer, could further boost all the ongoing efforts.
There are further opportunities ahead. The revision of the Orphan Medicinal Products Regulation offers a chance to join forces and share a ‘moonshot’ mindset to get a deeper understanding of rare diseases, develop basic science and accelerate translational research and development (R&D). The review of the Cross-Border Healthcare Directive should reinforce the ERNs; and the proposed European Health Data Space has the potential to catalyse the use of crucial data.
Taken together, these are the ingredients for a better future for people affected by rare cancers. The EFPIA Oncology Platform stands ready to play its part in a joint effort to seize this moment.
As we mark Rare Disease Day, let’s put rare cancers in all policies. Together we can offer hope to the 650,000 people diagnosed with new rare cancers this year – and the 5.1 million people in the EU living with a rare cancer.
