Patients with rare cancers in the UK are somewhat better off than in many other European countries but some are still being misdiagnosed and therefore, receiving inappropriate treatment.

So says Kathy Oliver, co-director of the International Brain Tumour Alliance, who tells PharmaTimes that "this has nothing to do with training of pathologists or oncologists. The problem lies in the uncommon nature of these tumours which means that oncologists and pathologists see very few of them and lack the experience to recognise them".

Ms Oliver (pictured) was speaking after a meeting earlier this month in Brussels of the Rare Cancers Europe initiative. Among the issues discussed wasthe need for referral of patients thought to have a rare cancer to an expert pathologist and also the need for a reimbursed second opinion if desired.

Access to meds 'a nightmare'

In the UK, rare and less common cancers account for 53% of cancer mortality and yet research "is desperately underfunded", she notes. In addition, "we simply don’t have enough clinical trials for people with rare cancers like brain tumours, chordomas, kidney cancer and other such devastating diseases". She goes on to note that "support and information can be extremely patchy and the costs of therapies for this small but suffering population are hugely expensive. So access to medicines can be a nightmare. There is huge unmet need".

Ms Oliver told PharmaTimes that the NHS should ensure that specialised centres with multidisciplinary teams (expert pathologist, surgeon, oncologist, specialist nurse, psychosocial support etc) exist for each type of rare cancer. However, when the expertise is not available in the UK, processes must be in place for patients to be referred to centres of excellence elsewhere in Europe, she says, and "these consultations abroad should be fully reimbursed so the patient is not out of pocket".

She made reference to the EU Cross Border Healthcare Directive calls for the establishment of European Reference Networks "in which we want to include criteria for appropriate diagnosis and treatment of patients with rare cancers". Also, "we need to remember that without optimally banked tissue samples from patients with rare cancers, research will grind to a halt. Patients need to be aware that their tumour tissue - properly preserved and banked - is absolutely crucial for research to move forward".

Donating data and tissue

Equally, "biobanks should be actively promoting research themselves, rather than just collecting and storing tissues", Ms Oliver says, and for these reasons "we are advocating that the EU General Data Protection Regulation gives patients the option to donate their data and tissue to public health research, while at the same time protecting their right to privacy". Additionally, she said it will be very important "for the sake of sustainable future research to obtain enduring consents from patients who donate tissue" which means that consent is not time-limited unless it is withdrawn by the patient.

Ms Oliver insists that while getting the diagnosis right "is vital to patients but it is also cost effective for society, as it avoids people being put on costly and inappropriate treatments which are not targeting the right disease. She went on to say that "what we certainly don’t want to see, for example, are patients erroneously having unnecessary operations due to an incorrect pathology or people who are under-treated or over-treated (with possibly dire consequences either way) because of errors in pathological diagnosis".

Some patients with rare cancers have spent many months and sometimes even years trying to get the right diagnosis, "then they have to fight to access innovative treatments," Ms Oliver told PharmaTimes. She concluded by noting that "sometimes they really struggle to find any information about their rare tumour or to obtain support. Often patients with a rare cancer feel like no one wants to bother with them – they are perceived as being in the too-hard basket with their small numbers, intransigent diseases and, frequently, much shortened lives".