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Collaborating to realise the potential of precision medicine

pharmafile | January 20, 2020 | Feature | Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing Precision Medicine, feature, pharma 

Healthcare is an evolving continuum, and while traditional strategies have seen improvements to patient outcomes over time, voices in the industry have been calling ever louder for a more targeted approach over the past decade. Collaboration may just be the key to make this shift a reality, as Matt Fellows discovers.

Historically, the most efficient and effective mode of healthcare on a broad scale was thought to be achieved by stratifying large groups of patients together by what they shared in common. However, as time has moved on and medical knowledge has improved, more recently emerging elements such as genetic profiling and indicative biomarkers have revealed that there is much more to the story than a ‘catch all’ healthcare approach could ever  adequately address. This gradual shift in the treatment paradigm has led to the rise of precision medicine, an approach which is in the process of revolutionising the way that patients are perceived within their healthcare journey and how they receive treatment.

The approach has been taken up by clinicians and medical professionals around the world as an increasingly prevalent standard. The development and application of this approach has led to the emergence of events such as the annual Powering Precision Health (PPH) Summit, where industry experts and health practitioners can meet to share knowledge and best practice in the pursuit of better patient outcomes.

The event was held this year at the Hotel Miramar in Barcelona, Spain, on 19 November. Pharmafocus reached out to its Founder Kevin Hrusovsky in the run-up to the event to learn why precision medicine is fast becoming the standardised approach to patient treatment:

“Precision health centres on monitoring an individual’s health at a molecular level – typically by tracking proteins in the blood indicative of health or sickness – to prevent illness, or at least enable earlier detection and diagnosis,” Hrusovsky explained. “In contrast to traditional, ’one-size-fits-all‘ strategies, precision medicine considers the different choices and circumstances of each individual, including inherited factors from our genes to lifestyle choices such as diets and sleeping patterns. This information informs the precise steps doctors should take to treat individuals, not a cohort of people who appear like individuals.

“This is only one part of the equation for improving the healthcare system, however. Precision medicine still remains a reactive process in which individuals receive treatment after they become symptomatic or take preventative steps based on possible outcomes. For example, the decision to undergo a mastectomy because a genetic test found evidence of BRCA1, BRCA2 or another inherited mutation linked to increased risk.

“Precision health goes beyond precision medicine by fundamentally shifting the industry’s mindset from treating disease to avoiding it entirely,” he continued. “While genetic testing has become widely popular, genes only indicate predisposition or risk instead of providing a view into the actual biological changes that can occur early in disease development. Biomarkers, on the other hand, have become by far the most promising tool to fulfil the promise of precision health with their ability to reveal changes in the body in real-time, empowering healthcare professionals to see and stop a disease at stage zero.”

The PPH Summit hosted its inaugural event in 2016, and every year since it has formed a hub to which prominent researchers, clinicians, medical leaders, innovators, patient advocates, and investors from around the world gravitate to discuss the latest advancements and the best path forward to push for better, more targeted patient care. It is this collaboration at its heart which has driven the event into another successful year and what makes it so important in the development of the field, Hrusovsky argues:

“Collaboration is the cornerstone of change, and this is especially true in the healthcare industry with so many different stakeholders working toward their own objectives. These groups can often work against one another in silos, stalling progress essential to the health and wellbeing of society. PPH was established to bring together change agents from across the healthcare spectrum. Every year, individuals from these sectors convene to discuss challenges, share successes and collaborate on the path forward. Forums like PPH serve as opportunities to revitalise current efforts by hearing other perspectives. They are also a powerful reminder of why we continue to fight against devastating diseases like cancer, Alzheimer’s, multiple sclerosis, amyotrophic lateral sclerosis and Parkinson’s, as well as traumatic brain injury, despite the setbacks and challenges we may face along the way.”

Pharmafocus also reached out to Dr Rany Aburashed, Chief of Neurology and Director of Multiple Sclerosis at the Memorial Institute for Neurosciences, who was due to attend the event and also featured as a key speaker, discussing the use of serum neurofilament light in real-world multiple sclerosis patients. He shared his thoughts on why events like PPH are the highlight of anyone’s calendar who is devoted to advancing the precision medicine approach.

“Events like Powering Precision Health are an essential opportunity for broader engagement of like-minded members of the medical community to come together and share insights toward reaching our long-term goal of improving patients’ lives and, hopefully, changing the natural history of the disease,” he explained. “The first step in doing so is to use our current understanding and most innovative technologies to better understand the behaviour of these diseases.

“A programme like this allows clinicians and scientists with similar areas of focus and priorities to come together, share data, and really drive meaningful conversations on how to move forward. In the end, the interested parties have a single goal – which is to correctly evaluate the applicability of these technologies toward life-altering decision thresholds made at the bedside.”

Meeting the need

So why do patients in the real world with very real conditions need precision medicine? In the field of multiple sclerosis, a condition for which there is no cure, the best patients can hope for is the effective management of impactful symptoms while minimising the impact of the harmful side-effects often caused by treatment. In some cases, this challenge can vary radically depending on the patient or the therapy used, as Dr Aburashed explains:

“The spectrum of medications currently available for multiple sclerosis differs extraordinarily in some instances in terms of risk versus benefit. Because our approach to the disease cannot be algorithmic due to the variability in a patient’s individual disease course, it remains essential that we build best practices around as much objective data as possible when making critical treatment decisions. 

“In using precision medicine, our hope is to be able to take the correct degree of risk that is necessary to keep an individual patient’s multiple sclerosis in the background. Our current standards of practice for monitoring patients remain incomplete as the disease has both a neurodegenerative component as well as an inflammatory component. The challenge remains detecting the unseen chronic changes, and then making necessary adjustments to treatment before the functional reserve of the central nervous system is damaged beyond a point as to allow for stability and/or recovery.

“One of the challenges in treating multiple sclerosis in particular is the heterogeneous nature of the disease. We take a precision medicine-based approach to treating multiple sclerosis at Memorial Healthcare because it gives us an opportunity to evaluate clinical and objective biomarkers and apply that knowledge to create treatment plans. This approach gives us more tangible, quantifiable insights for each individual patient that we can use to change the natural history of their case for the better.” 

A seismic shift?

A precision medicine approach promises benefits that often manifest in unique ways when applied to specific therapeutic fields, but across the board, Hrusovsky argues that the name of the game is ultimately prevention, rather than being forced to rely on treatment – an approach which is echoed increasingly frequently across today’s healthcare space, particularly in prevalent disease areas where mortality is unfortunately common, such as advanced cancers.  

“The ultimate goal of precision medicine should be to measure and monitor biomarkers as personal indicators of good health and ‘early warnings’ of adverse trends versus once symptoms materialise. We must pivot from reactive healthcare to a proactive system that continuously monitors our health and alerts people the moment they deviate from healthy baselines,” Hrusovsky says.

The term ‘precision medicine’ first cropped up in literature in 1999, and only with the recent advent of advanced technologies has the approach become feasible on a broad scale. With the approach only truly beginning to gain traction, how far away are we from making this vision a reality?

“We are actually a lot closer to this reality than many believe. Today, the average person can access an unbelievable number of digital tools to support their path to precision health,” he continued. “For example, we can map our genomes or uncover our lineage with a cheek swab. We can also monitor calories, nutrition and sleep through readily available apps and wearables. These solutions provide vital insight into an individual’s unique healthcare profile, with many more opportunities on the horizon as companies apply machine learning and artificial intelligence to bridge and analyse these diverse datasets.

“Similarly, technological advances including ultrasensitive biomarker detection tools are helping researchers drive a better understanding disease, from how it manifests and progresses to how it reacts with therapies and medication. These innovations are supporting pharmaceutical companies in their pursuit to identify drug trial candidates who are earlier in a disease cascade – when diseases are at their most treatable – and more accurately assess trial outcomes.”

So, while we may be closer than ever to putting these recommendations into practice and making them a reality for all patients, what is the best path forward to cement this foothold and calcify this approach in modern healthcare strategies and processes? Again, for Hrusovsky, it all comes back to collaboration on the highest quality research:

“Precision health is fundamentally shifting how we approach healthcare, moving the industry away from scrambling to cure diseases after the fact to preventing and detecting diseases long before symptoms are present, when disease is most treatable,” he explains. “This is paving the way toward a healthcare future where we don’t just measure and detect sickness but measure and detect health. This is game-changing for the industry and the foundation of the annual PPH Summit. Doctors have spent years focusing on prevention through nutrition, exercise and encouraging regular appointments. They now have the opportunity to do more. This effort could be the difference between catching cancer at its earliest stage and eliminating the need for chemotherapy instead of finding it later stage when palliative care is often the only option. PPH is how we inspire the industry to make this change now.

“Research and education are critical for realising the true potential of precision health. Without peer-reviewed research proving the utility of new technology, it can be next to impossible to build consensus and support from the scientists, clinicians, pharmaceutical companies and investors who ultimately make these technological advancements possible. This is not without good reason. Research is vital to ensuring only the best possible products and strategies reach patients. For example, biomarkers including neurofilament light (Nf-L) have seen a surge in publications validating it as a promising brain biomarker with vast clinical applications for neurological diseases and disorders. In fact, a study published in Nature earlier this year found that Nf-L could be used to diagnose the disease up to 16 years before symptoms. Companies such as Siemens Healthineers are embracing this biomarker and exploring ways to bring its diagnostic power out of the lab and into the hands of doctors through patient-facing Nf-L blood tests.

“Events like PPH are critical to this effort because they enable important information sharing and foster collaboration. PPH is a stand-out event in particular because it does not have a formal home base; rather, it retains a nomadic status by design to retain an equitable character with a diverse roster of luminaries unimpeded by geographical limitations.”

Keeping up the fight

Precision medicine has increasingly become a key staple of the most contemporary discussions around healthcare, and it’s not difficult to see why. As the evidence changes, so too must our approach, and the proliferation of ever-more insightful technology has afforded us a window through which to gather more data on patients and the therapies used to treat them than was ever previously possible; this is of critical importance in areas such as central nervous system and neurological disease where our limited understanding has caused research and effective treatment to stall. To Hrusovsky, this has all culminated to place us on the cusp of achieving something truly great when it comes to adopting an approach that will focus on individual cases and not be plagued by the missteps that come with treating patients as a homogenous group.

“There’s so much potential before us to transform healthcare. Today, we have a greater understanding of disease than ever before. We are closer than ever to pulling back the curtain on illnesses that continue to puzzle the industry, like Alzheimer’s and multiple sclerosis,” he remarks. “But no advance is without its failures. The biggest struggle we face is how to hold onto our hope and continue to fight, even in the face of harrowing trials and setbacks. How do we continue to push forward a treatment for Alzheimer’s when drug trials continue to fail? How do we help military personnel and athletes protect themselves from chronic traumatic encephalopathy (CTE) when we can’t even see it in a living person?

“We must remember what we’re fighting for and that we are not alone in the effort. Events like PPH remind healthcare stakeholders that there are many people fighting this war from all sides. At PPH, we work hard to make sure the patient perspective is well represented so attendees hear first-hand how their efforts are making a difference. I firmly believe that if we fully commit to the precision health initiative now, by 2030, healthcare will be 40% lower in cost, 60% more accessible to average citizens and we will live eight years longer and more productive lives.”

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