Precision medicine is here and ready to improve outcomes, yet patients cannot access the necessary tools and supports, the recent PEOF heard
Precision medicine represents a paradigm shift in the treatment of many of the most serious diseases, with the promise of tailored therapies and much-enhanced outcomes. Yet global access to this approach remains patchy and inconsistent, and inequality dominates.
This was the focus of an eagerly awaited session at the recent Autumn sessions of the Patient Engagement Open Forum. Entitled “Visualising the patient pathway in precision medicine: the identification of barriers and best practices across different stakeholder groups”, as with previous PEOF sessions, a broad spectrum of multi stakeholder involvement gathered to offer an holistic overview of the problems and endeavour to co-create potential solutions.
Helena Harnik, executive director of FT3, outlined the goals and objectives of the unique initiative. A “global collaborative program to make precision medicine an accessible reality for all those who could benefit from it”
“The FT3 members and community believe that a true multi stakeholder program, one that involved diverse stakeholders is the best way to address this complex issue,” she told the virtual audience. Initially focusing on cancer and testing, FT3 is striving to develop practical solutions to making precision medicine “a reality on the ground”. Immediate action is being taken to accelerate existing efforts in precision medicine and scale best practices, she added.
Yet this remains a “complex topic and fragmented landscape”, she reminded attendees; despite the rapid speed of change in the area, it is fundamentally fragmented in terms of the actors and organizations involved. “Hence the need for a whole health system view,” she advised. This is why FT3 is taking a unique approach, acting as a global catalyst identifying and sharing translatable good practices and learnings, developing practical resources and support for PM champions and identifying good practices but also co-creating solutions for unmet needs by drawing on existing knowledge.
Attendees of a previous PEOF session, back in September 2020, had direct input into this work, Harnik explained. Some 85 attendees had helped to identify over 220 patient support and information needs in precision medicine. These included issues pertaining to access, clinical trials, and testing, as well as understanding the patient experience and access barriers at all levels.
Andrea Ferris, President and CEO of LUNGevity Foundation, then delivered a presentation on the patient pathway in non small cell lung cancer (NSCLC). A lung cancer advocacy group, LUNGevity defines precision medicine as “biomarker-driven care” across the entire spectrum of a disease, Ferris explained. LUNGevity is involved in funding translational research, providing education and outreach, as well as promoting precision medicine and advocating for public policy reform.
“Every patient has access to the right test and the right treatment at the right time,” she said, adding that this is particularly important in lung cancer as advances in the area are being predominantly driven by precision medicine and immunotherapy.
Ferris outlined the biomarker testing journey of NSCLC; looking at it from different perspectives, she explained, including the patient, the healthcare provider, the payer, helped to identify the key barriers at all levels of stakeholder involvement.
There were “issues along the entire journey” – from the tissue acquisition to diagnostic testing, all the way through to how doctors were using the test results, educating patients on waiting for their test results and reimbursement of the eventual therapy. LUNGevity then explored interventions that would help to address the various barriers on this journey. “This is a tool that could be applied in many other diseases,” Ferris concluded.
FT3 were struck by the simplicity and effectiveness of LUNGevity’s approach, Helena explained, and also sought to map out the patient experience, as well as access barriers and solutions across the patient pathway. In the course of doing this, they also found similar approaches being taken elsewhere and elements of these were incorporated.
She presented a draft version of the resulting Access Barrier Cause-Effect Canvas, which aims to be a practical tool for precision medicine champions, enhancing best practice.
Tanya Knott established the SJK Foundation following the death of her sister Sarah Jennifer Knott from cancer of unknown primary (CUP) in direct response to the lack of specific supports for the disease, despite it being the fourth most common cause of cancer death worldwide. Embracing precision medicine is “critical” as it may allow CUP patients to be identified earlier and ultimately achieve better outcomes, Tanya told attendees. Significant advances have been made in not only awareness of CUP, but also in terms of diagnosis and treatment, with genomic advances crucial in achieving this. Tanya also outlined how genomic profiling will allow for targeted, personalized treatment, yet she reiterated that patients often cannot access these sophisticated but essential tests.
“Being a part of the FT3 group means we can work together with all the different countries to find the best practices and try bring them to the countries that don’t necessarily have them while learning from best examples,” she said.
Following Tanya was Warnyta Minnaard, who is one of the founders of Missie Tumor Onbekend, the Dutch advocacy and patient organization for patients with cancer of unknown primary (CUP). Outlining her own personal family experience of the disease, she reiterated Tanya’s points about the unsatisfactory nature of the patient pathway in CUP, as well as the barriers patients face in obtaining a timely diagnosis and effective treatment. Warnyta emphasized the aggravated emotional impact of
“every cancer or challenging diagnosis”. “It is especially challenging to grasp what is happening if you have cancer but they cannot locate the primary site and they don’t know what to do.” Yet she also stressed the enormous potential in this area because of increasing focus and enhanced possibilities around precision diagnosis and treatment.
As the diagnosis in CUP is based on a diagnosis of exclusion, discrete differences in the diagnostic workup between countries means there is no reliable comparison data, and no understanding why specific treatments are given to CUP patients, Caroline explained.
“Mostly we miss out on the possibility of learning from each other and improving healthcare for CUP worldwide”. A national and international consensus on diagnostic techniques must be achieved but this is easier said than done, she warned. “Together is the only way we can move forward.”
As with all PEOF sessions, its interactive nature meant that the feedback of the audience was eagerly gathered; Helena outlined the questions they were hoping to answer such as identifying access barriers, how best to represent the patient experience and which critical stakeholders were missing from the draft Access Barrier Cause-Effect Canvas. She also asked their input on how the canvas could be employed in a real-life scenario – this will allow the first draft to be refined and tested.
Feedback was plentiful: among the access barriers highlighted by the online attendees were the limited availability of tests, deficiencies in health literacy, delayed referrals by primary care physicians, and geographical issues. It was also suggested that the canvas could be used to help compare and contrast the experiences of patients in different jurisdictions to see where they diverge or converge.
Ultimately what the session had proven was that access challenges are “complex and interconnected” said Helena. “A whole system approach, starting with the patient experience is needed.”
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.’
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.”