This article is part of our special report Rare cancers: Cracking the code.
The diverse nature of rare cancers like sarcomas poses severe challenges to the medical community and policy-makers who need to seek a holistic approach, according to a report.
Sarcomas are a heterogeneous family of rare cancers. Due to poor diagnosis and low awareness among health practitioners, they pose a particular challenge to both patients and policymakers.
In the EU, it is estimated that there are 5.6 cases per 100,000 annually, representing 27,908 new cases per year [See background].
Need for EU-wide cooperation
Speaking at the “European policy response to rare cancers: the case of sarcoma” event yesterday (8 February), EU Commissioner for Health and Food Safety Vytenis Andriukaitis presented the executive’s work on rare diseases and cancers and called for targeted policies built on solid European cooperation.
“People with rare cancers such as sarcoma can face many years of suffering and uncertainty, misdiagnosis, with no access to appropriate treatment and care. Helping people with rare cancers get the best possible diagnosis and care across the EU is our common goal,” the EU health chief said, adding that the “Social Pillar” of the EU must address those issues.
Sarcoma policy checklist
In an effort to help policy makers tackle the complex challenges related to Sarcoma care, a multi-stakeholder group of experts developed the Sarcoma Policy Checklist and made several recommendations.
One suggestion is to establish national centres of reference on sarcoma working with a European Reference Network (ERN) in order to combine resources. Centralising care in high-volume centres has been shown to improve the overall quality of care for sarcomas, the report found.
According to the Commission, ERNs for rare diseases serve as research and knowledge centres, updating the latest scientific findings, treating patients from other member states and ensuring the availability of subsequent treatment facilities where necessary.
Another recommendation is to boost professional training, 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 or misdiagnosis.
In addition, many oncologists haven’t been trained on how to diagnose or treat sarcomas.
The Sarcoma Patient Experience Survey in England found 27% of patients who saw a general practitioner (and 25% who went to a hospital) for sarcoma symptoms “were started on treatment for another condition or were told symptoms were not serious”.
Estelle Lecointe, a representative of the Sarcoma Patients EuroNet (SPAEN) and Info Sarcomes, said that the first challenge a sarcoma patient is faced with was getting the right diagnosis.
“Sometimes, it can take weeks or even months, especially in some countries, before getting the right diagnosis due to the fact that these tumours are so rare that non-specialists have never seen a sarcoma patient case,” she noted, adding that these tumours can look benign and are confused with non-malignant diseases.
She continued, saying that there are countries, which have no expert networks, and as a consequence patients cannot find the proper doctor. “It’s also difficult for these doctors to be in touch with physicians who have the competence to guide them regarding the treatment or at least to refer them to a specialist,” she added.
ERNs, according to Estelle, are a move in the right direction. “They can significantly contribute by promoting education programmes to train non-specialist doctors especially from countries, where there are absolutely no experts networks.”
Research challenge and orphan drugs
The report also found a lack of funding for basic research on sarcomas and called for more incentives to support public-private partnerships focused on rare cancers. In addition, patients receiving treatment in reference centres were found to have a limited access to clinical trials.
The UK’s national sarcoma survey found 67% of patients were not asked whether they wanted to take part in a trial, and if they were, only 22% participated. Low enrolment in sarcoma trials is a problem due to the small numbers of patients with each type of sarcoma, meaning data collection is critical for any progress to be made, the report noted.
It added that a national clinical trial portal listing all ongoing sarcoma clinical trials should be made available to the public.
The authors of the report also underlined the many hurdles standing in the way of developing drugs for rare cancers, due to their rarity.
Estelle pointed out that access to sarcoma related medicines in some countries is a remarkable obstacle and healthcare systems cannot afford them.
“They are really expensive, more than €2,000 per month, the less expensive […] and they cannot be reimbursed because the patients are so few,” she noted.
Describing the complexity of sarcomas, she said that even with the same diagnosis one could have molecular sub-types, which will not have the same reaction to the drugs.
We should change the policy and develop the expert network centers, it should be the right of every patient to receive the right expertise and for the moment only few countries have this and that creates inequalities among patients.
The report underlined that patient involvement in Health Technology Assessment (HTA) and other access pathways is key to ensuring new treatments are developed based on what is most important to patients.
Since it is difficult to enroll patients in clinical trials, the report says physicians should have access to patient-friendly online portals that list all ongoing sarcoma clinical trials.
The HTA is a multidisciplinary process to assess the added value and effectiveness of a given health technology – for example medicine, medical devices, diagnostic tools or surgical procedures, over and above existing ones.
The pharma industry challenges
Dr Nora Drove Ubreva from Lilly pharmaceutical company stressed that particularly for sarcoma disease the pharma industry was “lacking expertise”.
“We are lacking registries, which would allow us to learn more about the disease and initiatives”, she explained, adding that the complexity of sarcomas makes planning and conducting clinical research “much harder”. To fully encompass a large number of sarcoma types, clinical trials should be conducted on an international scale, she said.
There is also a “disconnect” between what types of data that regulators and HTA bodies are asking for, Drove said. Regulators tend to be more flexible when it comes to conditional approval and allowing quicker access, while HTA bodies have been slower to adapt.
“Sometimes they are asking for data that may take years to generate, which is extremely complex,” she said. “This not only makes for difficult clinical research, it also delays access for patients to drugs that they really need.”
Professor Paolo Casali, coordinator of the Joint Action on Rare Cancers said, “If you look at the objectives of the Joint Action, you have exactly the same objectives (as the European Reference Networks). So, in practice, each item of the ERN is an objective of the joint action. We will try now to make sure that the tools that these networks have built throughout these years may be merged within the ERN”.
"We will try to make sure that (Joint Action) will be a think tank — a think tank capitalising on innovative solutions for the European Reference Networks in order to explore it in the best way possible for rare cancers,” Casali continued.
"Care and research should go hand in hand always because otherwise, we would miss big opportunities. And we know that early consultations with sarcomas are critical."
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 (otherwise 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.
Sarcoma Patients EuroNet
- Sarcoma Policy Checklist (Available in English, German, Spanish, French and Italian)