Rare cancers: A headache for policymakers

An Epithelioid sarcoma under the microscope. [Humanempath.com/ Flickr]

This article is part of our special report Rare cancers: Cracking the code.

The complexity of diagnosing and treating rare forms of cancers like sarcomas can be addressed by a multi-level approach and better coordination among member states, insist experts in the field.

The increasing occurrences of rare diseases has raised concern in Europe and policymakers are now stepping up efforts to address the situation.

Some five to 8,000 rare diseases currently affect 6-8% of the population in the EU today – between 27 and 36 million people – according to estimates.

Rare cancers, those with fewer than five cases out of 10,000, belong to this category. It may sound small, but according to European Commission estimates, this adds up to millions of people across the EU who are affected by such types of cancers.

Speaking at the kick-off meeting of the Joint Action of Rare Cancers in Luxembourg last November, EU Health and Food Safety Commissioner Vytenis Andriukaitis admitted that rare forms of cancer were particularly difficult to address and that there is no straightforward solution.

He said that 186 different types of cancer, including all childhood cancers, affected only a small number of patients each.

“Together, however, they affect over 4 million people and account for 22% of all cancers diagnosed in the EU each year,” the Commissioner noted.

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What are sarcomas?

Sarcomas are a diverse family of rare cancers that develop in connective tissues that can affect virtually any part of the body. But because so many different types of sarcomas exist, the diagnosis, treatment, research and policy-making surrounding them is challenging.

In the EU, it is estimated that there are 5.6 cases per 100,000 annually, representing 27,908 new cases per year.

For over 30 to 40 years there have been no significant advances in sarcoma treatments while effective treatment options are limited, especially for soft tissue sarcomas, which make up 84% of cases (bone sarcomas make up 14%). However, experts have noted that gastrointestinal stromal tumours (known as GIST) are an important exception, and have seen treatment advancements in recent years.

As a consequence, the survival rate is 47% for rare cancers versus 65% for common cancers.

According to Denis Horgan, executive director of the European Alliance for Personalised Medicine, the burden of rare diseases, such as sarcoma, on society is getting larger and should be prioritised on the political agenda.

“Some governments have begun to develop special access programmes, such as compassionate use, which increases early access to so-called orphan drugs,” Horgan told euractiv.com.

“This is to be welcomed but is not yet enough. The growing prevalence of rare diseases should make the area a healthcare priority for Europe, now and into the future,” he said.

The diagnosis burden

The chances of surviving sarcoma basically hinge on how early the disease is diagnosed.

Experts claim, though, that the diagnosis in this particular case is problematic, as non-specialists often can’t identify sarcomas due to their rarity, and inaccurate diagnosis leads to mismanagement in 70% of patients.

In addition, a late or inaccurate diagnosis results in high costs and poor quality of life for sarcoma patients and their families, while some treatments are not reimbursed, so patients may have to travel long distances for care and pay out-of-pocket.

Sarcoma patients often lack information about their condition, treatment, and ongoing clinical trials, and as a result, can’t make informed care decisions.

Taking action for rare cancers

For many rare cancers patients, it can be difficult to have access to appropriate therapies and clinical expertise, due to the fact that there has been a limited number of clinical studies to find new drugs and treatments, writes Mihaela Militaru.

Dr Wendy Yared, Director of the Association of European Cancer Leagues (ECL), told EURACTIV that improving the early diagnosis and timely referral of sarcoma cases is a major issue.

“Because sarcoma is so rare; because there is such a large number of types; and because symptoms are nebulous such as lumps and pain, proper diagnoses require quality imaging and biopsy services provided by specialised radiologists and pathologists,” she emphasised, adding that reference centres specialising in sarcomas could play a crucial role.

Dr Yared also called for closer collaboration between all relevant stakeholders – cancer leagues, lawmakers, patient organisations, academia, industry, and health professionals –in order to ensure that “true gaps and realistic solutions are identified”.

Better training

Boosting professional training is another major challenge, as sarcomas can occur anywhere in the body, meaning any type of physician may discover them.

But the problem is that most will not have seen a sarcoma and may not know what specialist to refer their patient to, leading to a delayed diagnosis, or a misdiagnosis.

In addition, many oncologists haven’t been trained on how to diagnose or treat sarcomas.

Professor Stefan Bielack, a board member of the European Society for Paediatric Oncology (SIOPE), told EURACTIV that suitable life-long training and education for primary care practitioners is crucial, as most of them are unfamiliar with the symptoms.

“Primary care needs to be aware of the possibility that a mass may represent a sarcoma,” the professor said. “Otherwise the correct diagnosis will be delayed, and this delay may negatively impact on a patient’s probability of survival.”

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The research challenge and orphan drugs 

Professor Bielack, also, stressed that almost no drug would be exclusively developed for rare cancers, such as any of the individual sarcoma subtypes.

“Therefore, schemes making drugs which were developed for the more common cancers available to sarcoma patients must be implemented, and these must reliably perform,” the professor emphasised.

The Association of European Cancer Leagues (ECL) recently established a European Task Force for Equal Access to Cancer Medicines during the Dutch EU Presidency.

The task force insists that patients should be able to access all effective and innovative cancer treatments.

“Specific actions are still being defined by Netherlands, France, member leagues of the Task Force, but suggested solutions may well indeed require a call on regulatory pathways to be more flexible,” Dr Yared told EURACTIV.

In an effort to help lawmakers tackle the complex challenges related to Sarcoma care, in recent months, a multi-stakeholder group of experts has been developing the Sarcoma Policy Checklist, which is due to be presented during an event on Wednesday (8 February) in the European Parliament.

Dr Wendy Yared, Director of the Association of European Cancer Leagues (ECL), told Euractiv that several initiatives have been taken to address rare cancers.

“The 2011-2014 European Partnership Action Against Cancer (EPAAC) addressed rare cancers in its Work Package 7 on Healthcare, and again in the current Joint Action on Cancer Control (CANCON) in Work Package 6 on Comprehensive Cancer Care Networks (CCCN). Throughout the years of these joint actions, there have been meetings at the European Parliament addressing priority issues in rare cancers, notably events organised by ECL, SIOPE, ECCO, and ECPC with the Members of the European Parliament Against Cancer (MAC),” he noted.

“In addition, we should not forget that Rare Cancers Europe, created in 2008 as a multi-stakeholder initiative with members including ECL, is well supported by policy makers and this campaign has been a driving force in ensuring that rare cancers is a firm European policy agenda.  Last but not least, the EU has just launched the three-year Joint Action on Rare Cancers (JARC) in November in Luxembourg, with the aim to prioritise all rare cancers in the agenda of the EU and the Member States with regards to national cancer plans, harmonisation of practices and funding of research.”  It is important to note that the pharmaceutical industry has been active in, and continues to support these actions on rare cancers,” he added.

Referring to children and adolescents with sarcomas, Professor Stefan Bielack, who is also a Paediatric Oncologist, said, “One important aspect would be to revise the EU Regulation on Paediatric Medicines to allow a faster, more effective and more targeted drug development for children and adolescents suffering from sarcomas. More specifically, pharmaceutical companies often obtain(ed) waivers from the obligation to investigate the potential benefit of a drug in the paediatric population, if the cancer for which the drug was originally developed in adults does not exist in children”.

“In practice, however, such drugs can still be used to treat other childhood cancer types (for example, a new drug for adult lung cancer can benefit children with neuroblastoma) and, therefore, drug development should be based on the medicine’s mechanism of action instead of its specific indication,” he added.

“Another important aspect is the need to be eliminate the age threshold (often at 18 years old) differentiating adult oncology patients from the paediatric ones. This limitation often hinders their participation in important phase 2 trials that potentially allow life-saving drug development based on tumor biology.”

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