EP PerMed awards the title of “Best Practice” (BP) in Personalised Medicine to Cancer Patients Europe (CPE) and Italian patient associations through the development of a White Paper on ESR1 mutations and the use of liquid biopsy in metastatic breast cancer (mBC).
Introduction: Why this Matters
Personalised medicine is not only about innovation in treatments. It’s about ensuring that the right patient receives the right therapy at the right time. This requires strong enabling frameworks that combine diagnostics, timely access to innovation, and active patient engagement.
In this context, EP PerMed highlights the work done by Cancer Patients Europe (CPE) and Italian patient associations through the development of a White Paper on ESR1 mutations and the use of liquid biopsy in metastatic breast cancer (mBC). This effort stands as an excellent example of how patient advocacy can inform and accelerate implementation of personalised medicine tools, support Health Technology Assessment (HTA) processes, and ultimately improve outcomes for patients.
Patients are not just data points. They are drivers of progress. This White Paper shows how informed advocacy can support and unlock access to lifesaving innovation.
Juan Ventura, CPE Research and Patient Engagement Director &
Antonella Cardone, CEO of CPE Cancer Patients Europe
The Clinical Challenge
- Metastatic Breast Cancer (mBC) affects thousands across Europe, with ER+/HER2- subtype being the most common (68%).
- European Society For Medical Oncology (ESMO) Guidelines recommend hormone therapy as first-line treatment for ER+ mBC, but up to 50% of patients develop resistance due to ESR1 mutations.
- New targeted therapies have been developed for ESR1-mutated cancers, offering an alternative before chemotherapy.
- Liquid biopsy enables minimally invasive and timely detection of ESR1 mutations, critical to guiding treatment decisions.
The Patient Perspective: Insights from the CPE White Paper
CPE conducted a patient survey across five European countries (Italy, France, Spain, UK, Germany) to understand awareness and access to ESR1 testing via liquid biopsy. The results were striking:
- 70% of mBC patients were unaware of ESR1’s role in resistance to hormone therapy.
- Only 12% of respondents had been tested for ESR1 mutations, despite nearly half being at risk.
- 60% were unaware that liquid biopsy could reliably detect cancer DNA.
- Almost 30% of patients did not trust the use of liquid biopsy, indicating a strong need for trusted, accessible education.
This data underscores a major gap in information and access, particularly in countries like Italy, and highlights the urgent need for awareness, policy support, and clinical integration.
Advocacy in Action: The Role of Patient Associations
The development and dissemination of this White Paper are part of a broader strategy to:
- Empower patients with accessible, reliable knowledge.
- Promote trust in innovative diagnostics like liquid biopsy.
- Push for system-level changes, including:
- Public funding for biomarker testing.
- Clear national guidelines on when and how to use liquid biopsy.
- HTA processes that consider the patient perspective in evaluating diagnostic and therapeutic innovations.
From Advocacy to Implementation: The Role of HTA and Enabling Frameworks
- The new EU HTA Regulation can be a game-changer, allowing better alignment across Member States.
- By incorporating patient-generated evidence and preferences, HTA can accelerate reimbursement decisions for both diagnostics and treatments.
- In Italy, integrating HTA early into the clinical decision-making process (e.g. for ESR1 testing) could reduce time-to-access for patients in need of novel therapies.
- Enabling frameworks, including national plans on personalised medicine and oncology, must reflect the evolving role of diagnostics and the patient voice.
Key Takeaways and Recommendations
- Recognise and support the role of patient organisations in co-developing diagnostic strategies and improving health literacy.
- Ensure reimbursement and funding mechanisms for advanced diagnostics like liquid biopsy, alongside therapies.
- Promote harmonised HTA assessments at EU and national levels, considering patient-centric evidence.
- Educate clinicians and patients through targeted campaigns on biomarker testing and personalised treatment options.
- Implement ESR1 testing via liquid biopsy as a standard of care in the management of ER+/HER2- mBC patients.
Conclusion
This case illustrates how personalised medicine is not only driven by scientific innovation, but also by patient engagement, timely diagnostics, and responsive health policy. By learning from this collaborative effort, anchored in patient advocacy and supported by emerging HTA frameworks, countries like Italy can lead the way in making precision oncology a lived reality for patients.