ONCOLOGY

Georg Pirmin Meyer, Senior Vice President, International, at Blueprint Medicines, explores how precision medicine and personalised treatments can improve healthcare in Europe, and around the globe

Delivering on the promise of precision medicine in ‘one-size fits all’ health systems

Every day, new technologies are unlocking deeper insights into the molecular and cellular alterations underlying numerous diseases, and transforming our ability to diagnose and treat them. When these insights are paired with precision medicine, we can also pave the way for more precise, predictable, and powerful treatment approaches that underpin truly patientcentric care.

Researchers are now much more hopeful to treat diseases that have previously seemed untreatable, due to the lack of understanding around the underlying causes. Even some patients with certain common cancers, such as lung or breast, don’t respond to standard-of-care treatments in the same manner as other patients. Researchers and clinicians have made significant strides in the last decade to understand why changes at the genetic level may trigger an illness, and how better understanding these changes may lead to treatment options that hadn’t been there in the past. Recent progress from tools, such as genomics or big data, makes a direct contribution to care for patients living with cancer, or with rare diseases such as advanced systemic mastocytosis (advSM), which can become cancerous, or spinal muscular atrophy (SMA).

Within lung cancer, the introduction of precision therapies for patients with mutations such as Kirsten Rat Sarcoma virus (KRAS), Epidermal Growth Factor Receptor (EGFR), and Rearranged during Transfection (RET), have led to better clinical activity, supporting increased adoption of precision medicines. Historically, these patients may not have responded to standard treatments, and would have seen their disease progress with no further options. As more of these tools and technologies become available and enter into routine practice, researchers and physicians will be able to deliver the right health intervention, at the right time, and across more disease states.

Re-imagining treatment pathways

Realising the full value of these advancements requires a paradigm shift in the way medicine has been practiced for decades. Physicians have been taught that treatment approaches should be universally applied to every presenting patient. Until recently, a one-size-fits-all approach – aimed at the “average” patient, possibly with only minor, little understood variations – was the only option.

Precision medicine effectively turns this approach on its head. It recognises that complex diseases should no longer be considered as a single entity. One disease may have many different forms, or ‘subtypes’, resulting from the complex interaction of our biological make-up, and the diverse pathological and physiological processes in our bodies. This means that two patients who have the same clinical diagnosis, such as breast cancer, may really have two very different diseases, based on their genetic make-up and any mutations they have. This may impact not only the underlying disease, but also how the disease travels through their body. This also demonstrates why biomarker testing at diagnosis is essential to ensure each and every patient understands what is driving their disease, and has the potential to receive the best possible care right from the beginning of their treatment journey.

As we integrate and analyse genomics and other data, we can find common factors and causes of variation. This means we are constantly discovering new pathways and presentation of disease, and with those discoveries, changing how diseases are thought of and treated. It enables us to recognise that the same underlying change in our DNA or genome can lead to problems in very different parts of the body, which would not have been previously identified with a more traditional care approach.

An example of this is AdvSM, which, in 95% of cases, is driven by a D816V mutation to the KIT gene. The mutation leads to uncontrolled mast cell production across multiple organ systems, and is associated with poor overall survival. Symptoms are varied across the body and may include skin lesions, chronic anaphylaxis, hypotension, migraine, and bone and muscle pain. Individually, these symptoms would be treated by different physician specialties, and the connection may not be made to the underlying cause, which impacts time to diagnosis for the patient.

The emerging precision medicine ecosystem

While precision medicine represents incredible potential for physicians and their patients, we must also recognise the co-ordination needed to operate in a myriad stakeholder ecosystem. Joining the dots between patients, clinicians, laboratories, clinical information systems, and government or other industry research sponsors, is an incredibly complex and delicate balance of information systems, personal data, and best supportive care. As we continue to grow in our ability to execute on precision medicine, we will need further collaboration among the developers and regulators of precision medicine, professional societies who will train the next generation of researchers, providers, and the regional and national health technology bodies who provide recommendations on medicines, and the other health technologies that can be financed or reimbursed by the healthcare system.

Translating the science into value

As healthcare systems aim to reset and accommodate precision medicine into daily practice, they have also needed to rethink access and reimbursement processes. Innovation uptake rarely coincides at pace, and bringing precision medicines into clinical practice in Europe has been gradual, given barriers to adoption among Health Technology Assessment systems in many European countries.

What might not be immediately recognisable is the value precision medicines can bring to the overall health system. When the right treatment is identified and deployed at the earliest possible stage of disease, it will naturally decrease the use of ineffective or inappropriate treatments, reduce hospitalisations and other costs associated with chronic conditions, and more efficiently deploy the use of healthcare resources. However, there are also a number of environmental and organisational challenges that currently prevent the effective uptake of personalised medicines, and potentially hinder their development.

Collaboration by a range of stakeholders including leading payers, policymakers, and healthcare professionals, is needed to drive patient access and reimbursement for new therapies, as well as to maximise their positive impact on health systems in Europe.

Embracing the disruption

Advances in our understanding of the genome and disease pathogenesis, combined with collaboration of families and carers of patients living with cancer, are changing the landscape for clinical research and drug development. However, to fully realise the disruptive potential of precision medicine will require a multipronged scientific, clinical, and policy agenda.

The speed at which breakthroughs in precision therapies translate into advances in European healthcare, and improve patient outcomes for debilitating diseases, will ultimately depend on how stakeholders collaborate to tackle some uniquely European challenges. Only a continuously evolving and connected healthcare system will be able to accelerate the advancement of precision medicine technologies.