Breast cancer remains one of the world’s most significant health challenges. According to the World Health Organisation (WHO), approximately 2.4 million women were diagnosed with breast cancer globally in 2024, making it the most diagnosed cancer among women worldwide and a leading cause of cancer-related death among women in many countries.1 The good news is that outcomes continue to improve, particularly when cancer is detected early and patients have access to timely, high-quality diagnostics and treatment.2
As medicine becomes increasingly personalised, diagnostics are playing a greater role than ever in helping clinicians understand each patient’s disease and make more informed decisions throughout the care journey.
On World Breast Cancer Day, we spoke with Iris Faull, Chief Medical Officer at SYNLAB Group, about how diagnostics are shaping the future of breast cancer care.
How is genomic profiling changing breast cancer management?
This has been a key game changer over the last decade, improving diagnosis and shifting treatment towards being more personalised. We can look at the biology of the tumour by analysing the tissue or even the blood of the patient. Profiling technologies allow us to analyse a large number of genes that can be important as treatment targets or prognostic factors. This has provided the basis for personalised therapies.
We can also look for genes or signatures that indicate whether someone may be a candidate for immunotherapy.
European guidelines recommend genomic profiling at different stages of breast cancer management, including:
- at diagnosis
- to monitor response to therapy in patients with advanced breast cancer
- at disease progression
Tumours can change over time, which means their genetic characteristics can also change. As treatment decisions may depend on these changes, we must track them.
Liquid biopsy is receiving growing attention. What potential does it offer?
Liquid biopsy has been another tremendous technological and medical advance in recent years. To provide the best therapeutic option for a patient, we need to understand the biology of the tumour. Usually, this involves taking a biopsy and analysing the tissue. However, in many situations, the biopsy cannot be taken, the fragments obtained may not be representative, the patient may be too unwell to undergo a biopsy or other factors may limit access to the tissue.
Sometimes, results are also needed urgently to guide treatment, and organising a biopsy and analysing the sample takes time. Taking a blood sample, on the other hand, is very simple, much like a routine blood test, and the sample is available immediately for analysis.
Technology has made it possible to detect genetic material of the tumour in the peripheral blood and sequence it to identify the potential mutations or genetic changes. This is called liquid biopsy, as we analyse tumour DNA circulating in the blood.
For advanced breast cancer, European guidelines recommend liquid biopsy at diagnosis when tissue is not available or results are urgently needed, and to monitor response to therapy or if the disease progresses.
In other parts of the world, liquid biopsy is being used one step further, in the early stages of disease. After a localised tumour has been removed, liquid biopsy can be used to check if there is minimal residual disease (MRD) in the blood which cannot be detected through imaging. This approach is already starting to be used in some parts of the world. In Europe, we are awaiting the results of clinical trials before it can be implemented more widely.
What emerging trends in diagnostics are you particularly excited about?
The potential use of liquid biopsy to detect minimal residual disease, the development of new therapies, including vaccines, that can target genetic changes, as well as blood-based solutions and AI, are all promising developments. To develop targeted therapies, we need to analyse the biology of the tumours and understand their genetic “fingerprint”. Blood-based solutions and AI can also help us find tumours earlier and identify the best ways to treat them.
At the same time, women should participate in screening as recommended by their healthcare systems, as screening has been shown to save lives.
Breast cancer remains a major health challenge worldwide. What gives you optimism today?
International collaboration across biotechnology, diagnostics and pharma companies, scientific societies and patient associations has enabled incredible advances in cancer diagnostics and treatment. In many parts of the world, five-year survival for breast cancer after diagnosis is above 80% which is a tremendous achievement. If we detect more cases early, outcomes can improve even further.
Continued cross-country collaborations will allow us to develop and implement progress in diagnostics and therapies more quickly and efficiently.