Warnyta Minnaard lost her partner, Hederik, to Cancer of Unknown Primary (CUP). Heartbreak inspired her to spearhead a campaign for the reimbursement of whole genome sequencing in the Netherlands so that others might be spared the same fate
Hederik was just 32 when he became ill three years ago. It began with a drooping eyelid and prompted him to go to hospital in search of answers. Doctors were able to confirm after several months that he had cancer, but could not determine where it began. This matters because diagnosis informs treatment.
‘Unfortunately, he passed away in early January 2019 and I became a widow at age 29,’ Warnyta recalled. ‘Even though he was severely ill, we had no idea he was going to die as we were in the midst of an ongoing diagnostic trajectory that already took seven months.’
Hederik was one of about 1,500 Dutch people each year who are diagnosed with Cancer of Unknown Primary (CUP). For patients with CUP – an advanced/metastatic form of cancer which affects at least two areas of the body – time is of the essence. However, lack of access to cutting-edge diagnostics is a barrier to diagnosis and effective treatment which could prolong and improve lives.
The advent of whole genome sequencing (WGS) of tumours promises to transform cancer care, making it more personalized and more effective. Instead of treating cancer based on where in the body it began, doctors would select a treatment based on the genetic characteristics of the tumour.
Policy influencers
Warnyta co-founded Missie Tumor Onbekend, a patient support and advocacy organization for patients with CUP in the Netherlands. The charity advocates for a specialized diagnostic and improved care pathways for CUP patients, better access to innovative diagnostics, and better treatment. The organization also offers support to patients, clinical research and awareness raising campaigns.
Legislators in the Dutch Parliament had been working on personalized medicine for some time in an attempt to update health insurance rules to keep pace with rapid advances in medical science. Warnyta and colleagues saw an opportunity to ensure that the interests of CUP patients were reflected in any legislation agreed by policymakers.
Following a series of events to engage with experts and members of Parliament and key decision-makers, Missie Tumor Onbekend and a team of clinical experts helped to secure a significant amendment to proposed legislation which has now come into force.
Petur Snaebjornsson, a clinical pathologist at the Netherlands Cancer Institute, helped to make the case to policymakers by explaining the technology and sharing early data from a large study. He argues that WGS is better than routine DNA testing which can sometimes leave out rare but relevant biomarkers.
‘WGS offers two main advantages. Firstly, in this all-in-one DNA test you can detect all genetic biomarkers that are used to guide so-called targeted treatment or immunotherapy, which are new types of cancer treatment compared to chemotherapy,’ he said.
‘Secondly, WGS can be used to predict the location of the primary tumour. Finding the primary tumour location is of importance because it guides the choice of chemotherapy. So WGS represents a win-win test for patients with cancer of unknown primary.’
Insurance coverage
In February 2021, the Parliament unanimously added extensive DNA-testing to the basic package of care that must be covered by private health insurers as part of their mandatory offering available to each citizen in the country. This led to WGS being reimbursed for CUP patients from 24 April 2021.
Petur said the campaign and subsequent changes to reimbursement rules have increased awareness of CUP, raised the profile of patient advocates, and prompted the establishment of a Dutch expert platform called CUPP-NL. ‘The platform aims to raise awareness and collaboration, pool current knowledge, stimulate research and improve diagnostics and treatment options for patients with CUP,’ he added.
It was a remarkable achievement for the small group of activists behind a relatively new advocacy organization. However, campaigners are not yet ready to celebrate as there is still work to do before the new rules have the desired impact. Some patients have reported a slow response to the new rules, with families struggling to access the testing they need.
Petur said performing WGS early in the diagnostic process is vital to improving outcomes. Some hospitals have opened CUP clinics and access would improve if more hospitals followed this example.
For Warnyta, this cannot come quickly enough: action must follow the policy shift announced in April. ‘We are now strong on policy but the coordination to reflect the policy change in care pathways is still missing at a central level. In specific parts of the country, hospitals are now taking a coordinator role for patients in their catchment areas but access needs to be arranged at a country-wide level so that it does not matter where you live,’ she said.
This is a source of deep frustration and sadness for campaigners and people living with CUP. As time ticks on, lives are lost. And that motivates Warnyta and other CUP patient advocates to continue to strive for more awareness and support for CUP.
World CUP Week: Researchers are screening hundreds of tumour genes in search of drug targets that could open the door to more personalised cancer care
Most cancers are named – and treated – according to where the first tumour is found. But for some patients, tumours are detected in various organs of the body but the origin of the disease remains a mystery.
People with Cancer of Unknown Primary (CUP) are up against it. Their disease is advanced at the time of diagnosis and there are no specific treatment options available. As time is of the essence, they are usually offered several drugs at once – an approach known as polychemotherapy – in the hope that one of them may work. The outcomes are often poor and therapies affecting all of the body’s cells can make patients feel very unwell.
‘We would like to see a more personalised approach to therapy in patients with CUP,’ explained Dr Manel Esteller, Director of the Josep Carreras Leukaemia Research Institute (IJC) in Barcelona. ‘For common cancer types, such as colon cancer and lung cancer, some hospitals screen patients for genes which help them select a targeted therapy. In CUP, we don’t yet know which genes to look for.’
To rectify this, Dr Esteller is running the CUPP-On project which will analyse samples from 50 patients with CUP. The team are looking for up to 500 genetic mutations or copy number variations (CNV) frequently observed in solid tumours, for which there are already approved therapies available.
‘In selected cases, we will take a sample of the patient’s tumour and grow it in mice where we can then test existing therapies to establish whether it reduces tumour growth,’ Dr Esteller said.
Clinicians may consider using this information to change their patients’ treatment plan. Looking at the bigger picture, the study could offer clues about the origins of CUPs. ‘Is the original tumour small or hidden? Is there something special about these tumour types? Are certain genes responsible for a proportion of CUP cases? We hope to find out,’ said Dr Esteller.
Other advances could flow from the project, such as the inclusion of CUP patients in so-called basket trials where patients are recruited to clinical studies based on having a tumour with a specific mutation which can be targeted by a drug.
‘Basket trials don’t care about tumour type or location – they include patients based on the presence of certain mutations,’ Dr Esteller said. ‘If we show that some CUP patients have mutations that are actionable by a drug, it becomes possible to join these kinds of trials.’
He said targeted therapy also brings benefits beyond survival as treatment tends to be well tolerated, helping to preserve quality of life. If the study proves successful, the results could be translated into clinical practice relatively swiftly as the drugs are already approved for human use. What’s more, as the cost of gene sequencing is much lower than it was a decade ago, there are fewer barriers to access in hospitals with sufficient lab capacity.
The CUP-On project is supported by the Sarah Jennifer Knott Foundation, a charitable organisation devoted to promoting awareness, education and research of CUP. ‘Support from charitable foundations is critical right now as it can be challenging to attract large grants from public agencies for rare tumours,’ Dr Esteller said. ‘Foundations can make a big difference by jump-starting research initiatives like this one.’
Tanya Knott, Director of the Sarah Jennifer Knott Foundation said patients diagnosed with cancer of unknown primary desperately need greater access to genomic profiling and potential targeted treatments. ‘The potential diagnostic and treatment opportunities that Dr Esteller’s research study will bring for CUP patients is incredible and we feel honoured to contribute to his amazing work.’
Here is an update on latest developments in FT3 including ideas to get involved and engage your network.
At the last Board meeting, FT3 members clarified our unique role as a global catalyst to identify and share translatable good practices & learnings in precision medicine (PM) across our 3 strategic pillars: Support Data & Evidence Development, Provide Education & Tools, and Build the Accessibility Conditions for PM.
Building on the gaps and shared needs that the FT3 community identified, we are developing tools and resources for key stakeholder champions in PM, designed to be adapted to the local context. There are 4 groups of resources: resources for patient organizations and support for HCPs, a library of patient stories and evidence, advocacy tools, and capacity building resources. We aim to develop the first testable resources this year.
Thanks to the hard work and expertise contributed by FT3 collaborators, we now have several resources in production. Highlights include a draft Patient Information Needs Map resource, a draft Q&A resource tool, and a draft Access Barrier Cause-Effect Canvas ready for feedback. Help us bring these resources to the next level of maturity by sharing your feedback and sharing this update with your network.
First tools and resources for PM champions now available for further development with the FT3 community
The PM champion toolbox is a suite of resources for key stakeholders in PM (e.g. patient organizations, key HCPs, key health system actors) across the 3 strategic areas of FT3 that build on existing learnings and good practices.
Draft Patient Information Needs Map: This co-created tool aims to help PM stakeholders develop informational resources and strategies that meet individual patients where they are in the patient pathway. The map provides an overview of the key decision points and information needs. Please share the Patient Information Needs Map with your colleagues and networks for feedback and share any ideas or opportunities to apply it.
Parallel Q&A resource tool to target individual Patients: The draft Q&A builder for PM advocates and champions, co-created by working group contributors, is composed of questions that individual patients can ask their HCP in order to guide shared decision-making, leading to better health outcomes, with a particular focus on genomic testing and biomarker-driven care. This patient-facing part of the resource is currently being reviewed with the HCP community. Please share your feedback and connect us with HCPs who could help us define HCP support needs.
The Draft Access Barrier Cause-Effect Canvas aims to help identify the patient pathway in a given focus area, as well as access barriers and good practices experienced by different stakeholders at each step. The first draft is now available here for feedback and an interactive session on the canvas is planned at the Patient Engagement Open Forum on October 6.
Also in the pipeline
Country & Condition Cards: The availability of PM varies from country to country, making it hard to make comparisons and share best practices. Policy makers are often not aware of the current situation and potential advocates working towards advancing access to PM do not have easy facts at their disposal. The country and condition cards aim to fill that gap. Currently, we are finalising our first country card prototypes using the Netherlands and Ireland as a starting point. Look out for an update in the next few weeks to share your feedback and tell us if you are interested in helping us prototype the Cards in your area of work.
Adaptable patient information resources for Patient Organizations: to support FT3’s mission to bring together learnings and good practices in PM, the sub-working group has identified the first good practice resources that are now being converted into adaptable formats. Tell us about any other good practice resources in PM that could be a model for other users.
Tell the story of PM: this sub-working group is focused on developing an approach and storytelling materials to tell the story of PM and why it matters, for different stakeholder groups. This is a tool that various stakeholders can use and adapt to get exactly what they need to advocate for PM in various environments and locations.
Library of patient stories & evidence: contributors have identified an opportunity to bring together and link existing patient stories and evidence across PM. We are now using the first patient stories proposed by the FT3 community to try to develop a common framework for sharing patient stories. Share your patient stories and let us know if you want to be involved.
The Precision Medicine Synapse (in beta) supports FT3’s mission to defragment the PM ecosystem, facilitate collaboration and share best practices to drive change. It is an interconnected and dynamic repository of precision medicine experts, activists, initiatives and resources that is focused on building a crowdsourced global actionable community on precision medicine. To date there are over 279 resources, 269 organizations, 111 events and 46 people mapped in the PM environment.
Call-To-Action publication: FT3 members have been working on a “Call to Action” publication to create the right context for the program to succeed, build awareness of the program and approach, and to build a wider support network to develop and disseminate our activities. We are now in the last stages of finalizing the manuscript and aim for publication in early 2022.
Building an influence network to engage, cocreate and cascade outputs
The complex challenges of PM can only be sustainably addressed through close multi-stakeholder collaboration across the whole PM ecosystem. An important FT3 strategic driver is to connect and cascade through ambassadors in the wider PM community.
Extending the FT3 community through disease awareness days
Disease awareness days are an opportunity to raise awareness of PM, identify challenges, and bubble up good practices, as well as engage stakeholders to support FT3 activities. It is also part of FT3’s mission to support ongoing efforts in PM. These efforts will continue in September, starting with CUP World Awareness Week and Thyroid Cancer Awareness Month. Please share and engage with our social media channels (on Twitter, LinkedIn and Facebook) and use the suggested messages and visuals provided in the social media toolkit which will be updated on an ongoing basis. Tell us about your disease awareness activities or any other campaigns that we can connect to and support.
Latest storytelling content to share with your network
This blog, with contributions from Tanya Knott of the Sarah Jennifer Knott Foundation, Dr John Symons of the Cancer of Unknown Primary Foundation and Warnyta Minnaard of Missie Tumor Onbekend, brings together different perspectives on CUP and sets the scene for the upcoming World Awareness Week.
This interview with FT3 member Brian Tomlinson of Foundation Medicine highlights the importance of understanding the genomic drivers of a person’s cancer in order to impact cancer care in the future.
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.’
Cancer will only be beaten when the genomic drivers of a person’s cancer are understood and targeted, according to Brian Tomlinson of Foundation Medicine
Tell me about yourself and your organization
Brian Tomlinson – Medicine Foundation
Foundation Medicine is a molecular information company dedicated to transforming cancer care through a deep understanding of the genomic changes that contribute to each patient’s unique cancer. The company offers a full suite of comprehensive genomic profiling assays to identify the molecular alterations in a patient’s cancer and match them with relevant targeted therapies, immunotherapies and clinical trials.
I joined Foundation Medicine after working for two national cancer patient advocacy Organizations for nearly 18 years. In my role at Foundation Medicine, I lead our external engagement efforts with our patient advocacy partners in the US.
What does personalized medicine mean to you?
Personalized medicine involves providing treatment based on the unique drivers of disease at a molecular level. In cancer, this starts with comprehensive genomic testing to understand what’s driving a patient’s cancer at a molecular level. This gives oncologists and patients the information they need to make informed treatment decisions.
We’re at a critical moment for precision medicine in cancer care. To me, it means finding the right treatment, for the right patient and the right time.
Why do you believe this topic is important?
I am motivated every day by the patients we serve now and the opportunity we have to impact cancer care in the future. Unfortunately, many patients right now do not have access to genomic testing. We have an opportunity to extend lives or even manage cancer as a chronic condition for certain patients today using these breakthrough therapies, but we can only do this when physicians understand the genomic drivers of a patients’ cancer.
As part of our efforts to expand access to genomic testing, we engage with advocacy groups and patients across indications to share scientific insights and serve as a resource on CGP with the goal of expanding overall education and awareness. I have dedicated my career to supporting cancer patients and their families. Having comprehensive testing provides access to really important information about treatment planning and shared decision making.
Why is your organization interested in participating in this multi-stakeholder collaboration? What has your organization been doing in this space?
We believe that transforming cancer care and ensuring all patients can benefit from precision medicine cannot be done alone, which is why we believe collaboration across the ecosystem is so critical. Over the past almost 10 years we’ve established deep partnerships with organizations across academia, industry, biopharma and advocacy.
What makes this collaboration unique?
I think the global focus and the comprehensive external stakeholder engagement make this collaboration a first of its kind and quite unique.
What are your ultimate expectations from the project?
We know expanding access to CGP is critical to increasing the number of patients who can benefit from precision medicine. We’re committed to working across the ecosystem to ensure all patients can benefit from the latest science at the time of care and that oncologists have the tools to make informed treatment decisions. We’re at a true turning point for precision medicine in many regions – including Europe. The healthcare ecosystem has made incredible progress in recent years but there is more work to be done.
Begonya Nafria Escalera of Sant Joan de Déu Children’s Hospital in Barcelona has both a professional and personal interest in ensuring that patients’ needs are met by personalized medicine
Tell me about yourself and your organization
Begonya Nafria Escalera – Sant Joan de Déu Research Foundation
I’m working at Sant Joan de Déu Children’s Hospital as Patient Engagement in Research Coordinator. My area of responsibility is to ensure that the patients and families have an active role, as experts, in any of the research and innovation projects in which our institution is involved. Sant Joan de Déu Children’s Hospital is the largest paediatric hospital in Spain. My background is in social sciences and working in the defence of the patients’ rights for more than 10 years. Also I have a personal story linked with my area of expertise, as I’m caregiver of an adult with cerebral palsy, my brother. In recent years I have also been volunteering with several patient organizations.
What does personalized medicine mean to you?
For me it means the opportunity to offer a treatment for a huge group of complex conditions, the genetic diseases. Most of these conditions affect paediatric patients and there is no cure for them, only in some cases palliative treatments. PM from the patient side means hope but also uncertainty. At this moment, few conditions have the opportunity of these innovative treatments, this means that we need to inform and educate the patients/families about this type of treatment, how it works and what it means to be involved in a clinical trial.
Why do you believe this topic is important?
Because research in new treatments is moving to this direction: try to provide the best and most accurate treatment for the patients. Society and specifically the patients/caregivers need also to move in this direction, knowing what a therapy means, when it works and also the status of research according to the different genetic conditions.
Why is your organization interested in participating in this multi-stakeholder collaboration?
We are increasing our activity in the field of clinical trials in paediatric conditions, as most of these diseases are genetic. For our patients this really can be an opportunity for treatment in the future, considering that probably at the present we don’t have therapeutic options to offer to them. In parallel, in our institution the research model is based on a patient-centric approach, ensuring that in any project in which our institution will be involved patients/families can take part as advisors and/or part of the research team. We have a young person’s advisory group helping in many projects, a board of parents, and according to the needs of every initiative we set up a specific group of patients/parents to help in the design and development of the project. We don’t envision clinical research without the involvement of patients and parents.
What makes this collaboration unique?
For me, it’s the 360 degree approach with a pillar being patient involvement and the issues that need to be addressed to ensure the best quality of life, disease management and empowerment. The activities around health literacy are essential to ensure that any initiative about personalized medicine will be patient-centric, providing patients with the right information to make decisions about their health and treatments.
What are your ultimate expectations from the project?
I am happy to contribute to a global initiative in which patient engagement will be an essential part of the framework, while increasing awareness about health literacy in this field and providing the expertise of working with paediatric patients. As clinical trials in children and young people are global, we need truly collaborative initiatives involving different stakeholders in order to provide the best treatments for the patients, always considering the unmet and specific needs of the most vulnerable groups of patients.
Making personalized healthcare an accessible reality for as many people as possible has been a priority for Sandra Blum of Roche’s Global Patient Partnership team for many years
Tell us more about yourself and your organization.
Sandra Blum – Roche
I am part of the Global Patient Partnership team at Roche. ‘Partnership’ is not just part of our name. It’s a mindset and way of doing things that is highly valued in our organization to develop solutions and medicines that truly meet the needs of individuals, communities and society. Personalized Healthcare is a major focus for Roche and it includes a shift from treating a disease to delivering better care.
What does personalized medicine mean to you?
To me it means that my doctor knows me and my history, and it’s ok if that information comes from a medical record that follows me around wherever I go in the healthcare system or even the world. Together we are able to use all of the available resources to understand my health issues – imaging, diagnostic blood or tissue tests, whatever will give us the best information to work with. Then we discuss and agree on the treatment option(s) that we think will do the most to address my health issues while also taking into account how I like to live my life. And we stay connected to monitor how things are going and make informed decisions about changing course if that’s what we need to do. Plus, all my data will be shared with the right doctor and there is the possibility of improving medical care for others by sharing anonymised data with researchers.
Why do you believe this topic is important?
Health and illness ultimately are very personal, both because of how we experience them but also because we have a growing scientific understanding of how unique diseases are at an individual level. Take cancer as an example. If I get breast cancer, it may be really different than my friend’s breast cancer because of my lifestyle, my body, and the specific ‘fingerprint’ or genetic characteristics of my cancer. In fact, now science is showing us that where a cancer starts – the breast, the colon, the lungs – is only part of the story. That ‘fingerprint’ or genetic make-up of the cancer may ultimately be a better way of understanding what’s driving it and finding the best way to treat it. I’m so passionate about this because it is personal for me, too: my mom died in her 50s of colon cancer. I still miss her pretty much every day. You never know if things could have turned out differently for mom if she had been diagnosed sooner or treated differently. We couldn’t save her but I do hope I can play a role in saving other people, and I think following the science to personalize cancer care, and healthcare in general, is the way forward.
Why is your organization interested in participating in this multi-stakeholder collaboration?
Our vision is to ensure that the screening, diagnosis, treatment and even prevention of diseases will more quickly and effectively transform the lives of people everywhere – ensuring the right treatment for the right patient at the right time.There has been amazing progress in personalizing healthcare over the last 20-plus years, but there is still so much further to go. And not just with research and new advances, but importantly in connecting people to what is available today but may be out of reach in their country or their community. No one can make that kind of change happen alone. We need to work together. FT3 Alliance is an exciting forum to partner with patients, medical experts, companies in biotech/biopharma and other organizations that all share a passion and commitment to making personalized medicine a reality for more people. Roche is so proud to be a FT3 member and collaborator.
What has Roche been doing in this space?
I mentioned that personalized healthcare is abig focus for Roche. We have been really busy working on this for years! Just a few examples… we are bringing together divisions across the Roche group (imaging, diagnostics, pharma) to create integrated solutions that provide personalized healthcare. We have developed digital monitoring tools to make it easier for people to capture and share their health data with their doctors and manage their health. We have a variety of clinical trials looking across cancer types using molecular profiling and targeted treatments as well as capturing real-world data to understand outcomes and inform health system decision-making. Much of what we do is in partnership not only with patients but also with stakeholders in the medical, policy and research communities to collectively create an environment that is ready to deliver personalized healthcare to patients.
What makes this collaboration unique?
FT3 Alliance is a global multi-stakeholder organization focused on personalized healthcare. We have a tremendous opportunity to bring people together from all around the world and from different disciplines to learn about what has been successful and what remains to be done. And because we’re a global network, we can partner with other regional or country-level organizations that are trying to do similar things, so that together we can move faster or do more.
What are your ultimate expectations from the project?
Roche wants to be a part of the change that needs to happen to make personalized healthcare an accessible reality for as many people as possible. Working together, FT3 Alliance has to move quickly beyond analysis, debate and idea generation and into actions that have an impact in countries and communities around the world.
Susan McClure, founder and CEO of Genome Creative, says that while clinical adoption of targeted treatments remains low, multi-stakeholder efforts such as FT3 can change this
Susan McClure – Genome Creative
Tell us more about your organization
We specialize in content strategy, editorial and design updates, event creation and management, websites, podcasts, apps, and marketing. Specifically, we work with partners who share our vision of educating people around how their treatment options are changing thanks to our increased understanding of our DNA. Our goal is to educate people around this exciting time in health care while dispelling myths, explaining the science, and encouraging further exploration.
Genome Creative specializes in creating compelling content that explains complicated topics in a language that everyone can understand. Our team of award-winning science writers and health care journalists are adept at covering this emerging field in a way that is engaging and accessible.
What does personalized medicine mean to you?
I’ve been leading consumer health media companies since 2003, after recovering from an aggressive form of breast cancer. I spent a decade as the publisher of CURE magazine. During my time there, I realized that treatment options were becoming more targeted but clinical adoption and consumer awareness remained low. I am on a mission to fix that.
I left CURE in late 2012 to launch the first national consumer magazine exclusively devoted to genomics. Genome magazine launched in 2014 with the mission of exploring the world of personalized medicine and the genomic revolution that makes it possible, empowering readers to make informed health decisions by improving their health literacy.
While doing research for the business plan, I was truly shocked to see how many treatments that are considered the “standard of care” for conditions like depression, cancer, and Alzheimer’s are ineffective for many patients. Can you imagine if the same standards applied to the auto industry for example? Just imagine how upset you’d be if you paid $70,000 for a car that only ran 25 to 30 percent of the time! We need to demand more of our health care system.
Why is your organization interested in participating in this multi-stakeholder collaboration? What has your organization been doing in this space?
While I am a huge advocate for personalized medicine, I understand the complexities that exist in terms of adoption. I believe that the only way to break down barriers is to bring together a diverse set of stakeholders who are committed to improving access to testing and targeted treatments for any patient who may benefit. My team already works with clients on communication strategies that educate patients about the ways testing and treatment for a variety of conditions are becoming more targeted. We also direct patients to useful resources so they are better equipped to have meaningful conversations with their HCPs about more personalized treatment options.
What makes this collaboration unique?
I believe that this is the first and only global coalition to address this issue by bringing patients, advocates, pharma and diagnostic companies, HCPs, payers, and regulators who will all work together to establish best practices to make personalized care accessible to all people.
What are your ultimate expectations from the project?
My hope is that no matter where a person lives in the world, when faced with a health challenge that could benefit from testing and treatments tailored to the unique characteristics of their disease, they will have easy access to education, information, and support that will enable them to make better health decisions with improved outcomes.
Danielle Barron speaks to FT3 board member Dr. Benedikt Westphalen, Head of Molecular Diagnostics and Therapy Program and the Molecular Tumour Board, Comprehensive Cancer Centre, University Munich, Germany
Dr Benedikt Westphalen is a medical oncologist and molecular biologist, focusing on gastrointestinal oncology and precision oncology. For the last four years, he has been building a precision oncology program at the University of Munich.
Oncology has been transformed in recent years by the concept of personalized medicine. Westphalen explains that, in his field, personalized medicine covers “multiple aspects”.
“The most comprehensive statement would be ‘the right treatment, for the patient at the right time’,” he says. “This covers all aspects from assessing the patient’s prevalence, working with a multidisciplinary team to design and discuss a personalized treatment plan to then realize this plan together with the patient.”
Unsurprisingly, Dr Westphalen is of the belief that personalized medicine should not be a “nice to have”, but rather an essential approach to patient care. In this setting, it is important “to have all necessary tools at hand” to offer patients the most comprehensive oncological care, Westphalen states.
“True personalized medicine, going beyond only focusing on certain aspects in the continuum of oncological care, should be the goal of every practicing oncologist to achieve the best outcome for every individual patient,” he states.
As a healthcare professional and research scientist, Westphalen practices personalized medicine every day. But he believes that the multi-stakeholder collaboration involved in the FT3 project will bring it to the next level.
“FT3 covers an important aspect in personalized medicine, namely the interplay between comprehensive biomarker testing and treatment decisions based on the individual profile of a patient’s tumor. Modern oncology increasingly depends on this interplay.”
Yet, there are still many roadblocks in place, which prevent caregivers from offering both modern tumor testing and innovative targeted agents to their patients. We can only overcome these roadblocks by working together in a dedicated team, he adds. To this end, he has great faith in the objectives of the FT3.
“This multi-stakeholder non-profit initiative has a strong focus on patients’ needs and strong backing within industry, this makes for a very good start to create sustainable projects and ultimately lasting value”.
While Dr Westphalen has been working in personalized medicine for a couple of years, he is still very excited about the potential of the FT3 project.
“I hope that we will be able to form a group of dedicated people, growing together with the aim to drive all aspects of precision oncology ultimately improving care for our patients.”
Patients with rare disease often do not have a voice and rely on strong support from family, carers and trusted advocates. On Rare Disease Day 2021, FT3 speaks to advocates for those with a rare disease, who outline the barriers and roadblocks to obtaining a prompt diagnosis and the best possible personalized treatment.
Warnyta Minnaard is the co-founder of Missie Tumor Onbekend, the patient support and advocacy organization for patients with cancer of unknown primary (CUP) in the Netherlands.
Cancer of unknown primary is the fourth most common metastatic cancer in the Netherlands, with about 1,400 Dutch people each year diagnosed with CUP. Missie Tumor Onbekend advocates for a specialized diagnostic and care pathway for CUP patients, better access to innovative diagnostics and (curative/palliative) care. Furthermore, we provide support to patients, share information about CUP, raise awareness and support clinical research to try to find a solution for CUP. About 2.5 years ago my partner Hederik (age 32) suddenly became ill. It all started with a hanging eyelid and we started with a journey in the hospital to try to find out what was wrong. Unfortunately, he passed away in early January 2019 and I became a widow at age 29. Even though he was severely ill, we had no idea he was going to die as we were in the midst of an ongoing diagnostic trajectory that already took seven months. This is more often the case with a CUP diagnosis; you don’t understand that it is a diagnosis to have cancer without knowing the origins.
Patients with CUP are an outlier in the oncology community, as they are metastatic cancer patients but the origin of their disease is unknown and therefore unfortunately their chances towards accessing treatments is still rather limited. You would expect an outlier to be uncommon, but CUP is the eighth most common cancer in the world; because this is such a diverse group of patients, it is challenging to provide a single solution. But it is clear, these patients deserve solutions; it is unbearable to be part of a patient group without evening knowing you are part of the group as your diagnosis is cancer of unknown primary and if nothing is done you will not survive. Furthermore, most cancer therapies are based on the origin of the disease, which is exactly unknown for CUP patients. More than half of CUP patients in the Netherlands pass away in less than two months, so urgency is needed.
I believe the focus should be on improving or changing diagnostics so that there is no longer a strict need to know the localization of the tumor, rather the DNA defects of the tumor cells of the metastases found in the body should become clear. So that treatment can be provided on the basis of molecular patterns and patients get an outlook and a chance towards care instead of staying in a diagnostic trajectory with no end. The developments of personalized diagnostics and treatments are exactly what CUP patients are in dire need of.
Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common “rare disorder”; approximately one in 6,000 babies born are affected, and about 1 in 40 people are genetic carriers.
SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body – i.e. shoulders, hips, and back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems.
Until very recently, there have been no treatments available for SMA patients. At diagnoses, they were simply told to take their children home and love them for as long as they had them. We at Cure SMA Canada offered support for newly diagnosed families, through life and in the event of end of life, we are there as well. We advocated for access to the first treatment that came available for SMA patients and were successful to receive approval in Canada. Unfortunately it wasn’t approved for all patients.
Every stepping stone along the path in the Canadian approval process was faced with barriers and the need for strong advocacy to justify patient access to the only treatment for SMA. The unfortunate loss of life and function during this process was devastating. With a progressive disease such as SMA, every day matters, every day is a loss of function and fear of what the future holds without treatment. We are now in the process of advocating for two new treatments here in Canada, we still have patients not accessing treatment because they fall outside the criteria for these treatments and we are advocating from square one again, justifying and waiting for approval while our patients continue to experience loss of function and experience high anxiety waiting to hear if the federal and provincial governments makes their life and death decisions. When you have a progressive disease, and are experiencing loss of physical abilities, it is even more devastating to know that other jurisdictions are approving treatment. In the meantime, we continue our work, to fight for our patient’s right to live their best life, to justify a life with treatment and hope that we are heard and considered partners in the decisions that will impact quality and quantity of life. Until we have a cure for SMA, the need for new and improved treatments will continue. Clearly involvement in clinical trials is essential for this information to be developed and available for Canadians. We must be participants and not bystanders.
