Personalised Medicine: What does it mean for Cancer Patients in Europe?

BIOMARKERS GUIDE FOR CANCER PATIENTS

Cancer Patients Europe (CPE) is proud to present its patients guide on personalised medicine. This publication sheds light on the opportunities and challenges of delivering truly personalised cancer care across Europe. Despite major scientific advances, too many patients are still excluded from life-saving treatments due to fragmented reimbursement systems, inconsistent biomarker testing, and unequal access to targeted therapies.

This patients guide gives policymakers, healthcare providers, industry partners, and patient advocates a clear roadmap to address these gaps and make precision medicine a standard of care for all – not a privilege for a few.

KEY HIGHLIGHTS

Implementation gaps in Europe: tests, therapies, and biomarkers must be treated as one package.
Policy mismatches: drugs are sometimes reimbursed while associated tests are not.
Patient impact: one in three patients is never tested before treatment.
Urgent call to action: ensure access, equity, and full integration of precision medicine in cancer care.

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Cancer affects millions of people worldwide. In 2020 alone, more than 19 million people were diagnosed with cancer, and this number is expected to rise by 50% by 2040¹.

One of the most promising ways to improve cancer care is through personalised medicine – choosing treatments that are tailored to each person. Biomarkers are at the heart of this approach. They help doctors understand what makes each cancer unique and guide decisions about the most effective and safest treatments.

A biomarker is any measurable sign in the body that provides information about health or disease.

1 https://www.who.int/news/item/03-02-2021-breast-cancer-now-most-common-form-of-cancer-whotaking-action

They can be molecules (like proteins or DNA), genes, mutations, or even patterns seen in medical imaging.

Biomarkers are found in blood, urine, saliva, stool, or tumor tissue.

They act like a “fingerprint” of cancer, helping doctors understand how it behaves.

Types of biomarkers and examples

Diagnostic biomarkers help detect cancer or identify its subtype. For example, HPV DNA testing can detect cervical cancer, and HER2 testing in breast cancer determines whether a tumor is HER2-positive.

Monitoring biomarkers are used during or after treatment to follow disease activity. Carcinoembryonic antigen (CEA) levels in colorectal cancer or circulating tumor DNA (ctDNA) in the blood, can signal whether treatment is working or if the cancer has returned.

Pharmacodynamic (response) biomarkers show that a treatment is having its intended biological effect. For example, measuring changes in hormone receptor activity during endocrine therapy for breast cancer can confirm that the drug is acting as expected.

Predictive biomarkers show which treatments are more likely (or less likely) to work. For instance, patients with KRAS mutations in colorectal cancer usually do not benefit from EGFR-targeted therapies such as cetuximab. On the other hand, patients with EGFR mutations in lung cancer may respond well to EGFR inhibitors.

Prognostic biomarkers give information about how aggressive a cancer may be, or the chance it will come back. The Oncotype DX^® test in breast cancer helps predict the risk of recurrence. BRCA1/2 mutations in breast cancer may also indicate a higher risk of developing a second cancer.

Safety biomarkers help predict or monitor side effects of treatment. For example, testing the TPMT gene in patients before leukemia treatment with thiopurines can prevent severe drug toxicity.

Susceptibility or risk biomarkers reveal an inherited tendency to develop cancer. For example, people with BRCA1/2 mutations have a higher lifetime risk of breast and ovarian cancer, while Lynch syndrome gene mutations increase the risk of colorectal and endometrial cancer.

How biomarkers are used in cancer care

Prevention and early detection → HPV DNA test, BRCA testing for high-risk women.

Diagnosis → Pathology tests for HER2, ER, PR (to classify breast cancer more precisely).

Treatment selection (personalised medicine) → Predictive markers (e.g., EGFR mutations in lung cancer) help choose targeted therapies over standard chemo.

Monitoring → Blood-based markers (CEA, ctDNA) can detect if treatment works and identifies recurrence early.

Benefits for patients

Precision: Treatments are tailored to the biology of the tumor.

Avoiding unnecessary treatments: Saves patients from side effects of drugs that won’t work for your cancer.

Better outcomes: Increases survival chances and quality of life.

Early warnings: Biomarkers can signal relapse earlier, allowing faster intervention.

Empowerment: Patients can discuss more informed treatment choices with their doctors.

Limitations of biomarkers

Not always available → Some hospitals or countries may not offer advanced biomarker tests.

Not 100% reliable → A biomarker result shows likelihood, not certainty.

Expensive → Some biomarker tests cost hundreds to thousands of euros and may not be reimbursed by insurance.

Complexity → Cancer is influenced by many factors; one biomarker alone may not give the full picture.

Unequal access in Europe → Western Europe offers many biomarker tests as standard care, but in Eastern and Southern Europe, availability is much lower.

Challenges for precision medicine in Europe

Clinically actionable biomarkers in Europe, according to the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT Tier I, a framework that classifies genomic alterations based on the strength of clinical evidence supporting their use as actionable targets for precision therapies)¹:

While these biomarkers are approved and recommended across Europe, their actual availability for testing shows notable regional discrepancies, with broader access in Western Europe compared to more limited implementation in Eastern Europe.

In general, patients in Western Europe benefit more from biomarker-guided care than those in Central and Eastern Europe². This is mainly because biomarkers and the detection tools are more available and reimbursed by the healthcare systems.

Lung Cancer:

ALK
EGFR
PD-L1 expression
ROS1
BRAF
MET
NTRK (1/2/3)
RET

Breast Cancer:

ER/PR
ERBB2 (HER2)
BRCA1/2
PIK3CA
MSI-H
NTRK (1/2/3)

Prostate Cancer:

BRCA1/2
MSI-H

Colon Cancer:

NRAS
BRAF V600E
KRAS p.G12C
MSI-H
NTRK (1/2/3)

1 Bayle A, Bonastre J, Chaltiel D, Latino N, Rouleau E, Peters S, Galotti M, Bricalli G, Besse B, Giuliani R. ESMO study on the availability and accessibility of biomolecular technologies in oncology in Europe. Ann Oncol. 2023 Oct;34(10):934-945. doi: 10.1016/j.annonc.2023.06.011. Epub 2023 Jul 3. PMID: 37406812.

2 Normanno N, Apostolidis K, Wolf A, Al Dieri R, Deans Z, Fairley J, Maas J, Martinez A, Moch H, Nielsen S, Pilz T, Rouleau E, Patton S, Williams V. Access and quality of biomarker testing for precision oncology in Europe. Eur J Cancer. 2022 Nov;176:70-77. doi: 10.1016/j.ejca.2022.09.005.

Across Europe, the availability of cancer diagnostic tools is uneven: while single-gene techniques such as immunohistochemistry (IHC), FISH, PCR, and MSI testing are widely and routinely available in nearly all EU countries, access drops sharply for more advanced technologies. Small NGS panels (<50 genes) are increasingly used but remain variable between regions, while large NGS panels (>50 genes), whole-exome/genome sequencing, RNA-seq, and tumor mutational burden (TMB) testing are still mostly limited to research settings or select centers, with notably poorer availability in Eastern Europe compared to Western Europe¹. In 2020, less than 25% of tumors were analyzed using NGS in many EU countries².

Of 86 biomarker submissions to the European Medicines Agency (EMA) between 2008-2020, only 13 were fully qualified³. The EMA follows a structured process for biomarker qualification⁴. A biomarker can be qualified when evidence shows it is reliable for a specific context of use (e.g., predicting treatment response or monitoring safety). The process involves several steps: defining the biomarker’s use, preparing a qualification dossier (with analytical, nonclinical, and clinical data), and submitting it to EMA for review. Once sufficient evidence is in place, the EMA may issue a qualification opinion, allowing the biomarker to be applied in drug development or clinical practice. The steps are summarized in the figure below.

2 OECD Health Working Papers No. 170. “Access to oncology medicines in EU and OECD countries.” Authors: Thomas Hofmarcher, Caroline Berchet, Guillaume Dedet. Organisation for Economic Co-operation and Development, 19 September 2024. DOI: https://dx.doi.org/10.1787/c263c014-en.

3 Bakker, E., Hendrikse, N.M., Ehmann, F., van der Meer, D.S., Llinares Garcia, J., Vetter, T., Starokozhko, V., & Mol, P.G.M. (2022). Biomarker Qualification at the European Medicines Agency: A Review of Biomarker Qualification Procedures From 2008 to 2020. Clinical Pharmacology & Therapeutics, doi:10.1002/cpt.2554.

4 European Medicines Agency (EMA). ICH Guideline E16 on Genomic Biomarkers Related to Drug Response: Context, Structure and Format of Qualification Submissions. EMA/CHMP/ICH/380636/2009. December 2010. Available at: www.ema.europa.eu.

Submission Preparation

Compile data supporting the biomarker qualification.
Align submission structure with the Common Technical Document (CTD) format.

Submission Sections

Section 1: Regional Administrative Information
Include region-specific documents (e.g., application forms, cover letter).

Section 2: Summaries

Biomarker Qualification Overview: Introduction, context of use, methodology, results, and conclusion.
Data Summaries: Analytical, nonclinical, and clinical data.

Section 3: Quality Reports

Structural, manufacturing, and quality characteristics (if applicable).

Section 4: Nonclinical Reports

Analytical assay development and validation reports, in-vitro and in-vivo study reports.

Section 5: Clinical Reports

Analytical assay development and validation reports, clinical pharmacology, efficacy, and safety study reports.

Context of Use Definition

Specify general area (e.g., nonclinical, clinical).
Define specific biomarker use (e.g., patient selection, dose optimization).
Identify critical parameters (e.g., assay specifications, species, demographics).

Data Presentation

Summarize methods, results, and critical appraisal of studies.
Use tables, figures, and cross-references for clarity.

Regulatory Review

Submit dossier to relevant regulatory authorities.
Address inconsistencies or provide additional data if requested.

Qualification Decision

Regulatory authorities assess biomarker data and context of use.
Qualified biomarkers can be used in drug or biotechnology product development.

Post-Qualification

Incorporate biomarker data into product-related applications (e.g., NDA, BLA, MAA).
Provide assessment reports for previously qualified biomarkers in new submissions.

Implementation gap: Even when biomarkers are validated, they can’t always be used as recommended. A key challenge for the implementation of precision medicine in Europe lies in the fragmentation of reimbursement pathways. Biomarkers, diagnostic tools, and targeted therapies are often evaluated and reimbursed separately, even though their clinical utility is intrinsically linked. For precision approaches to be effective for patients, all three components – biomarkers that identify the right population, validated diagnostics that detect them, and targeted therapies that provide clinical benefit – need to be recognized as a package. A biomarker without a test is useless in practice. A test without an available therapy is frustrating for patients and clinicians. A therapy without accurate testing risks treating the wrong patients, wasting resources, and causing avoidable side effects. In many European health systems, biomarkers, diagnostics, and drugs are evaluated and reimbursed separately. This creates policy mismatches: a therapy may be approved and reimbursed, but its associated test is not; or a test is validated but not funded, leaving patients to pay out-of-pocket. This fragmentation undermines the whole precision medicine model and puts patients at risk of not having access to potentially life-saving precision treatments.

Evidence from Cancer Patients Europe’s survey adds a critical dimension: despite the availability of biomarker-guided therapies, many patients are still not benefiting because testing is not consistently performed. 1 in 3 patients (33%) reported that they were never tested for biomarkers before starting treatment. This means a significant proportion of patients may have begun therapy without knowing whether a targeted option was available, or without confirming whether their cancer would respond to the prescribed treatment.

In summary, precision medicine offers a clear path toward more effective and individualized cancer care, but current gaps in access, validation, and implementation prevent many patients from benefiting. Addressing these challenges is essential to ensure that precision medicine fulfills its potential as a standard of care rather than a privilege limited to certain regions or populations.