“Every day matters”: What it means to have a rare disease

“Every day matters”: What it means to have a rare disease

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.

Susi Vander Wyk is executive director of Cure SMA Canada

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.

Why accessing precision medicine can be an impossible task for those with a rare disease

Why accessing precision medicine can be an impossible task for those with a rare disease

February 28 2021 marks the fourteenth international Rare Disease Day coordinated by EURORDIS. This global event offers patients, families and caregivers the opportunity to raise awareness and share their experiences of living with a rare disease and the arduous journey they often face as they seek diagnosis and treatment for their condition.

It is thought that there are around 7,000 rare or “orphan” diseases, some of which can affect as little as a handful of people worldwide. Advocacy with these small numbers can be difficult, hence Rare Disease Day is a chance to shine a spotlight on all rare diseases as the rare disease community joins together.

The relationship between personalized medicine and rare diseases is a close one – in many circumstances, personalized medicine offered the first opportunity that these patients had of effective treatment for their condition. FT3 has chosen Rare Disease Day 2021 to highlight the struggles that these patients can often face in accessing timely diagnosis and appropriate treatment, and the daily battles that their advocates engage in on their behalf. Here we present some of their stories:

“It is grossly under and mis-diagnosed”

Blaine Penny is the director and co-founder of MitoCanada, a charitable organization formed in 2010 by a group of passionate Canadian parents whose previously healthy children were given a diagnosis of mitochondrial disease. Blaine’s son Evan was one of these.

“There are minimal treatments and no cure for mitochondrial disease. Very few front line clinicians are knowledgeable about mitochondrial disease and there are only a handful of specialists in Canada. It is grossly under and mis-diagnosed, which means people do not know the root cause of the problem, and hence are not getting the best available treatment. MitoCanada estimates that only 20-30% of people with Mito get a diagnosis.

“Current treatments consist of the Mito cocktail, which is a combination of vitamin supplements to help stabilize the mitochondrial function. The Mito Cocktail is the no. 1 prescribed treatment for mito patients but one of the big challenges with this is affordability as only one province in Canada, Ontario, has a provincial Inherited Metabolic Disease Program that covers the cost. Most patients/family are burdened with these costs. Exercise is considered one of the best therapies, but unfortunately many patients (like my son Evan who is a spastic quadriplegic) cannot exercise. Evan is in 11 different clinics, takes 14 different medications and supplements, and requires around the clock nursing care. This is pretty typical of the complex mito patient and puts tremendous pressure on families to coordinate and balance care.

There is some light at the end of the tunnel; NextGen DNA sequencing is proving to be increasingly effective in diagnosing patients. But access to specialists and testing is critical. Earlier diagnosis results in earlier interventions which improves health and quality of life outcomes.”

“Patients are challenged by finding health care providers that have a deep understanding of their rare disease”

Dr Leanne M Ward is Professor of Pediatrics, University of Ottawa and Medical Director, The CHEO Genetic and Metabolic Bone Disease Clinic

I am a pediatric endocrinologist specializing in pediatric bone diseases, of which most are rare diseases. My goal in caring for such patients is to relieve pain and restore mobility.  Both surgical and medical management are needed to restore physical functioning in these disorders. But patients are challenged by finding health care providers that have a deep understanding of their rare condition, and gaining access to multidisciplinary care.  They are also challenged because the existing treatments for their disease are often symptom-targeted, and do not address the pathobiology of the condition.  By getting closer to the actual cause of the disorder and targeting that, we are better able to improve clinical outcomes in a meaningful way.

We need more education of health care professionals, with teams all working together to care for the patient, we need scientists working on the biology of the disease so that therapeutic targets can be identified, and we need clinical trials to be as streamlined and efficient as possible. As it is now, clinical trials are extremely difficult due to the multiple administrative and organizational layers that complicate the already-challenging medical care issues for those patients undergoing trials. I like the idea of “rare disease centers of excellence” that could be beacons of light for patients with rare disorders.

“There are hurdles to overcome at every stage of the BRCA journey”

Abi Jackson is a BRCA breast cancer advocate, based in Ireland. She works closely with the Marie Keating Foundation.

“Breast, bowel and ovarian are some cancers that can run in families, and occur when faulty genes pass down through generations. The lifetime risk for a woman with a BRCA1 mutation is 60-90%. These women additionally have a 40–60% lifetime risk of developing ovarian cancer. Men are often forgotten in discussions about BRCA, but they can carry cancer-causing faulty genes. A man with a BRCA1 mutation may be 3 or 4 times more likely to develop prostate cancer by age 65.

In recent years, largely thanks to the availability of genetic testing and awareness, a growing number of men and women have discovered they have the faulty BRCA gene as a result of pre-symptomatic screening. In my case, screening was offered to me and my siblings when my older sister, then 37 years, was diagnosed with breast cancer. Sadly, this was not the first or last woman in our wider family to receive this diagnosis. Having the knowledge that you are at high risk for breast and ovarian cancer is both a blessing and a burden. Like me, many opt to reduce the risk of developing cancer through surveillance and surgical procedures such as bilateral mastectomy and removal of the ovaries and fallopian tubes. Yet taking this route to protect your health is fraught with challenges at every step of the way.

There are hurdles to overcome at every stage of the BRCA journey. The first is navigating a health service that is not fit for purpose for genetic cancer patients. Getting a referral is not straightforward and often comes about by indirect channels. If you meet the eligibility criteria for genetic screening, you can choose to join a public or private waiting list for genetic counselling. As the clinical genetics service is so poorly resourced in Ireland, this can take many years. If you opt for private genetic counseling, the cost is high. With few exceptions, your care and treatment ends up occurring in silos; breast care clinic, gynaecology clinic, plastic surgery clinic, and psychology services. It is both an art and a science navigating multi-disciplinary care for a person with a faulty BRCA gene.

‘Personalized medicine is more than just medicine’

‘Personalized medicine is more than just medicine’

FT3 is unique in having patients as a fundamental and essential partner, says project member Durhane Wong-Rieger, President & CEO of the Canadian Organization for Rare Disorders 

Tell us more about yourself.

Durhane Wong-Rieger – CORD

I am President & CEO of the Canadian Organization for Rare Disorders (CORD). As head of a global alliance of rare disease patient organizations in Canada, we are committed to improving the lives of all Canadian patients and families affected by rare diseases. CORD leads initiatives to change and implement policy, collaborate to improve healthcare infrastructure, services, and access; advocate on behalf of patients for interventions, including innovative medicines, devices, and supportive services and foster research. We also increase the capacity of the patient organizations to take an active role in advocacy and support through a variety of training programs and collaborative projects. 

I am a psychologist by training and taught for about 20 years as a university professor before moving to full-time patient advocacy. I have two children born with rare conditions and a spouse with genetic heart disease and Parkinson’s Disease.

What does personalized medicine mean to you?

Personalized medicine is an “umbrella” concept that is inherent to rare diseases, whereby patients receive “targeted” care based on their individual diagnosis (disease, genetic/genomic profile, and lifestyle factors). The “rarer” the condition, the more challenging to get to a diagnosis but also the more critical to get it “precise” so the term “precision” healthcare is probably more applicable. It is more than just medicines and it may not be so much person-specific as targeted. Challenges exist on many levels, from system capacity, healthcare professional readiness, and patient awareness.  

Why do you believe this topic is important as a patient advocate?

Raising awareness and educating patients about personalized medicine is essential to accessing what is available and advocating for what could and should be available. Obviously, the patient is key in terms of seeking access and increasing capacity and willingness (that is, resources).

Why is your organization interested in participating in this multi-stakeholder collaboration? 

CORD, along with the international rare disease community, has been advancing models and centers for diagnosis, care, and treatment but also the development of innovative therapies (genetically defined and targeted). Our organization supports at the patient level development of patient registries to have patient populations available for clinical trials and to develop natural history studies as well as clinical trial design appropriate for “small, targeted” patient populations. Our organization has also been engaged in helping to define and collect patient outcome evidence, setting up access programs including new financing models for access, and promoting collaboration across all stakeholders so that innovations could be available as soon as possible but also cognizant of needs for sustainability (e.g., managed access, risk-sharing models, amortized financing).

What makes this collaboration unique?

FT3 is the first international collaboration where patients are not just equal partners but indeed an essential, fundamental partner. The patient voice and patient perspective are not just referenced but have primary status in terms of principles but also in decisions on how to proceed. 

What are your ultimate expectations from the project?

The most important short-term expectation is that all stakeholders remain committed to the collaboration and the process; we must learn how to work together effectively. Other short-term expectations are the articulation of consensual vision, principles, desired outcomes and from this platform the definition of a working process for the collaborations that translate into meaningful actions. This is all very high level so more concretely, I expect we will identify some existing best practices and transformative initiatives that can be built upon and adapted. That means we need to continue to foster an open sharing environment and avoid competition and “me-first” thinking. I think we are on the right path to get there.

‘This is the next generation of healthcare’

‘This is the next generation of healthcare’

Ralph Riley is a Global Co Dx Market Access Leader with Janssen. As an FT3 member, he believes that the increased adoption of personalized medicine will create value across the entire health ecosystem

Tell us more about yourself.

Ralph Riley – Janssen

I am the Global Co Dx Market Access Leader where I focus on evidence generation activities to help shape policy and payment to enable patient access to testing across all Janssen’s therapeutic areas.  The Co Dx Commercial Strategy Group in Janssen supports our pharmaceutical brand initiatives intended to improve patient outcomes by leveraging a variety of precision medicine tools to screen, diagnose, monitor, or select treatments for patients. I have more than 15 years at J&J – including 6 in our device sector in our former clinical diagnostics unit with the remaining time within R&D and Global Commercial Strategy at Janssen.  

What does personalized medicine mean to you?  

It’s the next generation of healthcare – where the patient gets treated and not just the disease. Personalized medicine leverages technologies to use validated information by a clinician and a patient to jointly make informed and timely choices about potential decisions regarding the patient’s health and well-being. It helps to more precisely answer questions regarding whether a patient is at risk for a disease, which disease a patient may have, how serious their particular disease may be, which treatment may best serve them and how they are doing once on treatment.   

Why do you believe this topic is important?

I believe there is no more profound way to create value for the system than to dramatically increase our success in improving health, and prevention plays a major role in more precise treatment of diseases too.

Why is your organization interested in participating in this multi-stakeholder collaboration? 

 A variety of stakeholders – especially patients – but including providers, industry (pharmaceutical, device, diagnostic, laboratory) and payers are all important.  Given the structure of the marketplace, the way to align discussion and demonstration of value for each stakeholder is to leverage a collaboration to listen and work with a common purpose. This means working with trade groups and patient organizations to find common ways to achieve better patient outcomes. These approaches are not new but are invaluable when large, strategic change is in the making.   

What makes this collaboration unique?  

I think in how it began- and will ultimately finish. With the collaborators directly listening to patients and their desires to give direction to our work.  In a way that mirrors what I think personalized medicine means to me…with the patient at the start and finish of our intentions.

What are your ultimate expectations from the project? 

Enablement of the dialog between patient and provider to make the best choices for the patient across their journey… with data and evidence to support those decisions…

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.”

‘Personalized medicine transcends the disease-specific approach’

‘Personalized medicine transcends the disease-specific approach’

FT3 member Ivica Belina, President of the Coalition of Associations in Healthcare, says a multistakeholder approach is essential in order to foster a culture of personalized medicine in healthcare

Tell me about yourself?

Ivica Belina – KUZ

I’m the president of Coalition of Association in Healthcare, a national umbrella patient organization in Croatia, which gathers over 30 patient organizations in different disease areas. The organization was founded in 2002 by a group of enthusiasts who wanted to unify and amplify the voice of patients in Croatia. The main activities of the organization are the protection and promotion of patient’s rights, but also raising awareness of patient’s obligations in the healthcare system, promotion of the active role of patients in the healthcare system and in their own treatment, and public policy in healthcare.

In the past four years we have also established a few informal platforms of patient organizations in the field of rare diseases, patients treated with biologic therapy and oncology. My own background is related to work in different civil organizations, mainly focused on people with disabilities, and by education I’m an educational rehabilitator (special needs teacher). 

What does personalized medicine mean to you?

I’m guided by the idea that we should treat the person, and not the disease. By that I mean that when a person becomes sick or afflicted with the disease or condition, the whole life of that person is influenced by this, and the entire ecosystem of that person is influenced to the same extent. So I believe that we should approach the patient as a whole, and provide all the necessary levels of support. Of course, I deeply understand the individual differences in the disease in different patients and the way they cope with the disease, and the only way to approach this is through personalized medicine.

Why do you believe this topic is important as a member of a patient organization?

The meaning of personalized medicine is important to me, because if I was ever to become a patient, I could get much more actively involved in the treatment and management of my disease, get much more information on my disease, codecide on my treatment and care programs, achieve better quality of life, help other patients with my data, information and experience, achieve better and closer relationship with my treatment and care providers, get involved in clinical trials… I believe that this is important to all patients. 

Why is your organization interested in participating in this multi-stakeholder collaboration? What has your organization been doing in this space?

My organization is always involved in the dialogues between different stakeholders in healthcare, we strive to have different perspectives on problems in healthcare, and raise topics that are not present in the public space. We see the personalized approach as the only way to improve treatment outcomes and quality of life of patients in the existing healthcare environment, but also better working conditions for the people who are professionally involved in healthcare.  To achieve this, we need to transcend medicine and the individual roles of the different healthcare stakeholders, and make the leap forward together. Actually, I don’t believe that any positive change is possible without a multistakeholder approach. 

What makes this collaboration unique?

The topic of personalized medicine transcends the disease-specific approach, positions of different stakeholders in healthcare and local/national/regional interests. Since this is such a new area, we all need to find a way to bring it to life, so it would become standard in healthcare. The special thing about this collaboration is that everyone involved is there from the start, so no one feels like he/she has been handed with already developed solutions, we are creating them together. Along the way, we are also detecting some problems and issues, but also the ways to solve them. For me, the uniqueness and strength of this collaboration is in so many different individualities working together, challenging themselves and everybody else in an attempt to make personalized medicine our everyday reality. 


‘This is a unique collaboration’

‘This is a unique collaboration’

Tanya Knott, Director, SJK Foundation, spoke to Danielle Barron about her vision of personalized medicine and the personal tragedy that drives her to make it a reality.

Tanya Knott – Sarah Jennifer Knott Foundation

Tell us more about you 

I am the founder and director of the Sarah Jennifer Knott Foundation. I established the foundation with family and friends in 2016 following the death of my sister Sarah aged 31 from cancer of unknown primary also known as CUP. The aim of the foundation is to raise awareness, education and research into CUP. This is an unusual type of cancer where the patient presents with a secondary cancer but the origin of the cancer is unknown. If the primary is unknown, the treatment is unknown. In Ireland, cancer of unknown primary affects up to 400 patients annually. Approximately 3-5% of all cancers are cancer of unknown primary, making CUP the fourth most common cause of death from cancer worldwide. 

My background is in healthcare, I am a registered nurse and worked for many years in the pharmaceutical industry. Throughout Sarah’s illness I realized the huge gap in care for patients like Sarah with CUP and armed with this knowledge I set up the foundation in an effort to address the unmet needs for patients diagnosed with this devastating illness.

What does personalized medicine mean to you?

In the future, where the cancer began will not be the treatment priority, and instead treatment will be tailored to the unique genetic make up found by genomic profiling. Enabling targeted treatment options specific to the individual patients needs. For patients with cancer of unknown primary and unusual cancers, genetic profiling offers a vital opportunity for targeted treatment. Studies have shown that relevant mutations are observed in 30-85% of patients with cancer of unknown primary. Genomic profiling is opening up access to clinical trials and access to revolutionary new treatments; unfortunately, despite these benefits, the transition to personalized medicine is slow.

Why do you believe this topic is important?

I believe access to personalized medicine is vital as it has the potential to transform patient’s lives, especially for patients with limited treatment options. Personalized medicine is a rapidly evolving field, with more and more targeted treatments available, but without the diagnostic profiling some of these therapies are not being considered for patients where they could be of huge benefit.

So much has changed since Sarah was ill, that if she was alive today there is a high chance that through genomic profiling an actionable mutation may have been found and she could have lived longer with controlled disease and many more treatment options.

Why is your organization interested in participating in this multi-stakeholder collaboration? 

SJK are honored to be founding members of this multi-stakeholder collaboration. One of our main objectives at SJK is to advocate for access to genomic profiling for all those who need it. Our goal is completely aligned with this global project. I quickly realized that to ensure patient access to genomic profiling I would need to be a part of something bigger! The barriers are so great and diverse it needs a multi-stakeholder collaboration to understand and overcome all the many obstacles. Through the multi-stakeholder approach we have the solutions to the barriers, we know where to focus for change.

The patient benefit is that they are given the option. Personalized medicine may not be an option for all patients, but to have the opportunity to be fully informed and to have the opportunity to discuss and understand the option with their HCP is a great benefit. Patients can also benefit from more accurate diagnoses, targeted treatments, with greater survival than perhaps their current treatment and with potentially less side effects. Patients can benefit from access to clinical trials and patients and their families can benefit from preventing hereditary cancers.

What makes this collaboration unique?

This is a unique collaboration as it is bringing together all the multi-stakeholders required to make personalized medicine a reality. As a global initiative, we can learn from best practices in countries and share these learnings with other countries. All stakeholders come with their expertise, the drive to overcome the obstacles, identify the solutions and implement the changes needed.


‘No two people are the same’

‘No two people are the same’

President of Lung Cancer Europe and molecular biologist, Dr. Anne-Marie Baird says personalized medicine should mean the best medicine, care, and support for people on an individualized basis

Tell us more about yourself?

Anne-Marie Baird – Lung Cancer Europe

I am a molecular biologist and have worked extensively on mesothelioma and lung cancer, with research interests in inflammation, the metastatic cascade, drug resistance, and disease biomarkers. I am currently a Senior Research Fellow in Trinity College Dublin, Ireland. Outside of that, I have been active in the lung cancer advocacy space since 2012 and was elected as the president of Lung Cancer Europe (LuCE) in May 2020, having served as a board member for two years. LuCE is a non-profit umbrella organization with over 30 members from more than 20 European countries. LuCE aims to be the voice of people impacted by lung cancer at a European level, advocating for improvements in lung cancer diagnostics, treatment, and care. Everything we do centers on our three core pillars of awareness, education, and advocacy. I also serve on the European Cancer Organisation Patient Advisory Committee and several other scientific and advocacy committees. 

What does personalized medicine mean to you?

To me, this is a dynamic and wide-ranging term. I believe that it should translate as the best medicine, care, and support for people on an individualized basis, which changes as needed throughout the entire care pathway. It is a term that has been used so widely that we need to remind ourselves that this idea of ‘personalized medicine’ is not a reality for everyone impacted by cancer. 

Why do you believe this topic is important? Do you have a personal angle?

Just as no two tumors are the same, no two people are the same. Therefore, it is important to find out as much about the person and their tumor as possible in order to provide the absolute best care.  

Why is your organization interested in participating in this multi-stakeholder collaboration? 

Lung cancer is a complex heterogeneous disease, therefore it is crucial that people know as much about their tumor type as possible, as this will help to identify the best possible care. There is so much information out there that it can be difficult to wade through it and find accurate quality information. We believe that being part of this larger community will make it easier to map what already exists, identify gaps, and design solutions to fill those gaps. It will also provide a platform to share best practices with other groups as we move toward more tumor agnostic therapies in the future. 

What has Lung Cancer Europe been doing in this space?

In LuCE, we have co-created molecularly targeted information with other stakeholders in the field. We have also improved education and awareness through on-line activities, webinars, and our education program. In February of last year, we launched a paper that examined lung cancer care in Europe. The research identified disparities in access to testing and innovative therapies across and within European countries, and also found that many people do not know if their tumor had been tested or if any alterations were found. 

What makes this collaboration unique?

This collaboration is unique in that it combines many different groups from all over the globe, with multiple parallel project strands. It has also built from the beginning with patients, with co-creation at its core. 

What are your ultimate expectations from the project?

To provide graspable tools that will have an impact on the real-world experience of patients.