How to ensure rare cancers get the attention they deserve

In Europe, rare diseases make up fewer than 50 of every 100,000 diagnosed cases. There are many rare cancers but taken as a group they cease to be uncommon; in fact, they account for about one-quarter of all cancer cases in the EU. To put things into perspective, if rare cancers were classified as a single type they would top the list of the most common cancers, ahead of lung, breast, and colorectal. It is estimated that more than 650,000 people across Europe will be diagnosed with a rare cancer this year, and that rare cancers will account for 30% of cancer deaths on the continent.

Though rare cancers are a major public health problem, they often do not get the attention they deserve. Access to treatment varies between, and even within, countries, and there is insufficient information available to patients as to where the best treatment can be found. There are difficulties caused by a lack of expertise in management of the particular form of cancer, and misdiagnoses.

Being diagnosed with any cancer is frightening for patients, but when it is a rare one it brings distinct problems. Patients can feel very isolated and unhappy because it is hard for them to find out information about their cancer, not to mention the difficulties of identifying a specialist in their disease and accessing the right treatment.

Even when a specialist in their cancer is found, patients may still have obstacles to face, for example having to travel a long way from home in order to receive treatment. This may also involve considerable expense – not just travel costs – because effective treatments are not always reimbursed by healthcare systems. As a result of these problems, five-year survival rates for rare cancers are much lower than they are in common cancers.

So, what can be done to address this situation? While it seems obvious that more and better research into rare cancer is needed to find new treatments and to use existing ones to optimal effect, the small number of patients with each rare cancer makes it difficult to carry out clinical trials with conclusive results. Research collaboration on an international scale is vital in order to recruit sufficient numbers of patients. The European Organisation for Research and Treatment of Cancer (EORTC) promotes scientific and political relationships at an EU level with the aim of addressing cancer challenges and ultimately making a positive impact on patients’ lives. There has already been substantial support from the European Commission through their various research programmes.

Over the last few years there have been positive developments, particularly in adolescent and paediatric cancers which are all classified as rare. Survival rates are increasing, and it is estimated that there will be 750,000 survivors by the year 2030. But today they are still the principal cause of death in children over one year old. However, many survivors will suffer long-term adverse effects, and the consequences can affect every area of their later lives, for example access to loans and mortgages. Fertility can also be affected in young cancer survivors, and this can have a devastating effect on happiness in later life. Fertility preservation is often possible, but in some instances patients still do not receive appropriate information about this.

Despite all the progress that has been made, the situation is far from ideal for rare cancer patients. We need far better integration, not only of research, but also of treatment opportunities and the provision of information, allowing patients to access treatment in other countries if it is not available in their own. Encouragingly, rare cancers are an area where patient groups are playing an increasingly active part in advocating for better treatment of their disease through contacts with researchers as well as politicians and healthcare providers. Patients’ experience can help the development of therapies and improve decision making by regulatory bodies so that their needs may be better met.

Is the use of the word “rare” at fault here? For those who are not familiar with the field, it most certainly gives the wrong impression. We call them rare cancers, but as a group of diseases they are far from rare. We should be doing all we can to ensure that rare cancer patients get the attention and treatment they deserve and are not simply dismissed as unusual cases that do not merit the same concern we show in better-known cancers. That means encouraging collaboration across the field – researchers, clinicians, pharma companies, patients, and politicians – working towards a common goal.

We have succeeded in moving rare cancers higher up the European political agenda. Although considerable progress has been made in the last 10 years, there is still a long way to go. We are looking forward to the day when our combined efforts will result in better diagnosis, better treatments, and improved access to those treatments for patients. And, of course, for the day when patients no longer feel frightened by a rare cancer diagnosis and what we mean by “rare” in this context is fully understood by everyone.