‘We have a growing scientific understanding of how unique diseases are, at an individual level’

‘We have a growing scientific understanding of how unique diseases are, at an individual level’

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 a big 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.

‘I am on a mission to fix that’

‘I am on a mission to fix that’

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.

‘True personalized medicine should be the goal’

‘True personalized medicine should be the goal’

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.”

“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.