Raising awareness of Cancers of Unknown Primary

Raising awareness of Cancers of Unknown Primary

CUP Awareness Week: connecting researchers, clinicians and patient advocates 

Cancer is usually diagnosed and treated based on where it began. If the disease originates in the lung, it is called lung cancer even if it spreads to the bones or the liver. This matters because it informs treatment decisions, prompting oncologists to follow standard pathways of care. 

However, the primary site of cancer is not always easily determined. This results in people being told that they have Cancer of Unknown Primary (CUP), leaving them without a clear treatment trajectory. In some cases, this translates into poor outcomes: mortality rates in CUP are among the highest in the field of oncology. CUP accounts for between 3% and 5% of cancers and is the sixth most cause of death in the UK, making it more common than cervical cancer and more deadly than kidney cancer. One in 64 people will be diagnosed with CUP during their lifetime (UK data).

Despite this, and the heavy toll it takes on patients and their families, the burden of the disease is underappreciated by the public, policymakers and many clinicians. Unlike breast cancer or bowel cancer, CUP is an area that has not traditionally been a hive of research activity and rarely makes the news headlines. 

Information hub & patient support 

CUP Awareness Week aims to change all of this. Running through the last full week of September (20-26 September 2021), it seeks to build momentum behind a shift towards treating cancer based on genomic information rather than solely on the initial location of a tumour. The first event of its kind, the awareness week will help to connect researchers and clinicians in this fast-moving field, while keeping patients at the centre of the conversation. 

‘Access to information and support can be a real challenge for patients with CUP. This need will be highlighted by CUP Awareness Week through the World CUP Awareness website. It aims to serve as a hub for all information regarding CUP for healthcare professionals, researchers, industry, patients, patient organisations and all those with an interest in CUP,’ said Tanya Knott of the Sarah Jennifer Knott Foundation, an advocacy group supporting education and research. ‘We will run webinars which are open to the public and allow experts and patients alike to learn more about CUP.’

Redefining cancer based on genomics 

The practice of classifying cancers based on their anatomical location is a legacy of the pre-genomic era: physicians labelled cancers according to the organ they first affected because it was the only information available. That has been changing, with genomics opening the door to a more precise approach to classifying and treating disease based on the genomics of a tumour. 

While scientific advances take time to filter down into daily practice, there are some positive signs that progress may be under way. Dr John Symons, who founded the Cancer of Unknown Primary Foundation in 2007, sees the 2010 publication of NICE Guidelines as a pivotal moment in England. 

‘In the 10 years prior to that, progress had been slow, despite advances in genomics,’ he recalls. ‘Frankly clinicians were not terribly interested in CUP: there was no solution, no guidelines, and it was not a major research area. Treatment was ad hoc and the outlook for patients was poor.’

The NICE Guidelines offered evidence-based treatment pathways which boosted recognition of CUP among clinicians, creating a managed pathway for patients to take. Perhaps unsurprisingly, not every doctor in every hospital follows – or is aware of – the guidelines. ‘We have seen some enlightened scientists come to view cancer as a disease of the genome rather than a disease of the anatomy, but healthcare systems lag science by a long way,’ John said. ‘We speak about it at conferences and it gradually filters into the health service, but it’s not there yet.’

Test, test, test

Central to the changes required to turn this approach to cancer into better outcomes is the use of molecular profiling which would inform treatment decisions. Some hospitals in the UK routinely run whole genome sequencing on tumour samples for research purposes but the practice is far from widespread. Indeed, testing is usually paid for privately rather than through centrally-funded health services.

‘Molecular profiling is available in Ireland where there is a therapeutic indication for example in breast and lung cancer, however for other cancers genomic testing is hugely under-resourced,’ Tanya explained. ‘Ireland has fallen behind and the gap is widening. Ireland needs a formalised national policy in genomic testing.’

In the Netherlands, the Parliament passed legislation in February 2021 which added extensive DNA-testing to the basic package of care that must be covered by private health insurers. This led to Whole Genome Sequencing (WGS) being reimbursed for CUP patients specifically from April and followed a vigorous campaign led by Warnyta Minnaard, co-founder of Missie Tumor Onbekend, a support and advocacy organization for CUP patients.

Despite this, some patients have been frustrated to find that the policy change has not yet been matched with action countrywide. ‘We are now strong on policy but the practicality to make the test readily available to all patients everywhere in the country is missing,’ she said. ‘Patients are still faced with bureaucracy when they try to get tested. Meanwhile, time will pass and people will die of CUP. That is why we need awareness of the urgency of the situation.’  

Warnyta also hopes to see greater standardisation in care within and between countries, with more hospitals following best practice and applying the latest tools to diagnose and treat CUP. ‘I hope CUP Awareness Week can prompt more people to reach out to us, to talk to their doctor, and to get tested,’ she said. ‘And, ultimately, I hope it gives more people a clear pathway and a better chance of survival.’

The true meaning of personalized medicine

The true meaning of personalized medicine

A recent virtual workshop sought to determine the needs of patients when it comes to personalized or precision medicine. Danielle Barron reports 

What is personalized medicine, and what does it mean for the everyday reality of patients?

A uniquely designed workshop at the recent Patient Engagement Open Forum sought to answer these questions by seeking to understand the landscape of information and support needs of the patient community (and others) in order to make informed decisions around personalized (or precision) medicine at various points in time.

Hosted by PARADIGM, PFMD and EUPATI, the Patient Engagement Open forum is a series of virtual events where a broad range of stakeholders aim to work together to turn patient engagement into reality. Although it migrated online this year, a large and eager audience still participated in each of the interactive and dynamic workshops. 

“From diagnosis to treatment and beyond: personalized medicine – what’s in it for patients and understanding patient needs to make it a reality?” was the workshop led by the “From Testing to Treatment Program” (FT3). The program aims to accelerate the benefits of Personalized Medicine and Precision Medicine (PM) by generating better evidence, creating awareness and building the conditions for better access to targeted medicine in oncology and beyond. 

FT3 is a global, open and collaborative multistakeholder program that aims to build synergies and accelerate pragmatic efforts to make PM an accessible reality for all those who could benefit from it, starting with oncology and testing. 

During this PE Open Forum workshop, attendees participated in an interactive exercise aimed at understanding the landscape of information and support needs of the patient community (and others) in order to make informed decisions around PM at various points in time. The insights gathered will inform the co-creating of PM support and information materials for the patient community, supplementing existing resources and tailoring the content to best address the unmet needs of patients.

Each patient experience is different, but the workshop aimed to highlight distinct ‘moments’ that are relevant from a patient perspective in terms of personalized and precision medicine. These were: Risk; Prognosis; Diagnosis; Treatment; and Monitoring. Patients were asked to identify their needs as they related to each of these distinct aspects of their experience so that a picture could be painted of changing requirements at these different and discrete moments.

In total, a staggering 220 support and information needs were identified during the workshop. Grouping these and assimilating similar suggestions led to a “top 10” list of needs, which helped to paint a picture of the myriad questions patients understandably have about all aspects of their diagnosis, prognosis, treatment and outcomes. What emerged was that patients are missing or don’t know where to find information crucial to each aspect of their patient experience, from initial diagnosis to treatment to living with the condition.

Although these are simply a sample of the hundreds if needs identified during the workshop, they were those that were shared by the largest number of patients who participated. These insights will now be considered as the FT3 begins its co-creation initiative with patients.

Leslie Manot was a patient representative who spoke powerfully about her personal experience with rare lung cancer during the session. She praised the “brainstorming” format utilized within the workshop, saying it compared favorably to other similar webinars or web conferences. 

“The format was very clear and well prepared,” said Manot. “The instructions were easy to understand and the results quickly readable.” She added that this event was hugely important, as it was a great opportunity for patients to pool their knowledge and strengths in order to improve their care at an international level.

Manot noted that it was a learning curve for patients too, helping them to understand that the struggles or difficulties they may face, other patients around the world face them too. “The surprise for me was to understand that most of the participants have the same issue as in France for test availability and drug market access.” She added she hopes the results will form the basis for discussions with the relevant authorities on the wide disparities in innovation access.

Why is it so important to capture patient insights? Manot said: “The patients are becoming experts in their disease, as due to internet utilization they have access to medical information, and they can share their experiences with other patients. Some of them even have a diploma to show they are a ‘patient-expert’. The professionals have knowledge but patients have experience.”