With 2.3 million new cases diagnosed annually worldwide, breast cancer remains the most common cancer affecting women. For decades, chemotherapy has been a cornerstone of breast cancer treatment. Though it has helped to save lives, persons undergoing that experience significant physical and emotional side effects, including fatigue, nausea, hair loss, infertility, and long-term health complications.
A recent international study called OPTIMA (Optimal Personalised Treatment of Early Breast Cancer Using Multi-parameter Analysis) suggests that many patients may be able to avoid chemotherapy altogether without compromising their chances of survival with Genomic testing.
Genomic testing
Genomic testing is a laboratory test that examines gene activity within a tumour to help predict how genes interact and is often used to understand complex conditions or to predict disease behaviour. By analysing cancer cell DNA, tests identify specific genetic changes or biomarkers driving tumour growth, and this information allows healthcare providers to select targeted therapies, improving outcomes and reducing side effects. (biologyinsights)
The trial demonstrated that genomic testing can identify patients with hormone-sensitive breast cancer who are unlikely to benefit from chemotherapy.
OPTIMA study used Veracyte's Prosigna genomic test, which measures the activity of genes involved in breast cancer growth. Veracyte's Prosigna genomic test is currently offered in the United States as a laboratory-developed test.
The OPTIMA Trial
The OPTIMA trial followed more than 4,400 breast cancer patients across the United Kingdom, Australia, New Zealand, Norway, Sweden, and Thailand.
Researchers focused on determining whether genomic testing could safely reduce the use of chemotherapy, and the trial recruited women and men aged 40 or older following surgery for hormone-sensitive breast cancer. OPTIMA included premenopausal women and patients with more extensive disease.
Most had their cancer spread to the underarm lymph nodes, which placed them at high risk of future recurrence. The tests were performed on cancer tissue samples, and extraction from diagnostic needle biopsies was also successful.
Participants were randomised into two groups: the standard treatment group, with patients who received hormone therapy, followed by hormone therapy, and the test-directed group, who had their tests checked with Prosigna.
In the test-directed group, those with a high score above 60 were treated with chemotherapy and hormone therapy, and those with a low score were given hormone therapy alone. In both groups, radiotherapy and other treatments were given as usual.
The trial primarily tried to understand whether test-directed treatment would or would not lead to a meaningful increase in the number of people whose cancer returned or who died within five years.
Key Findings
Of the 4,429 people who took part in the trial, more than two-thirds (68%) had a low Prosigna score.
Importantly, 94.8% of those who received chemotherapy alongside hormone therapy were alive and free from breast cancer recurrence, and 93.6% of those treated with hormone therapy alone were also alive and recurrence-free.
This means that only 2% of patients with a low Prosigna score treated with chemotherapy benefited from this treatment.
The results show that people aged 40 or older with hormone-sensitive breast cancer and a low Prosigna score can safely avoid chemotherapy.
Most importantly, researchers estimated that more than 5,000 patients in the National Health Service (NHS), the publicly funded healthcare system of the United Kingdom, could avoid chemotherapy each year as a result of this trial.
Challenges Ahead
Despite the promising findings, researchers caution that the study primarily included patients aged 40 and older with hormone-sensitive breast cancer, and it is not yet known whether findings apply to people under the age of 40.
Though the next OPTIMA trial aims to generate further information about the test use for premenopausal women, the result is still many years away.
The widespread adoption of genomic testing may also depend on cost, accessibility, and healthcare policy decisions.
Meanwhile, if implemented, a genomic-guided treatment approach looks like one that may transform breast cancer care by reducing overtreatment.
Conclusion
Avoiding unnecessary chemotherapy could improve quality of life during treatment, reduce healthcare costs, and lessen the risk of long-term complications. For many women, the possibility of receiving effective treatment without enduring chemotherapy's side effects represents a major advancement in cancer care.
As precision medicine continues to evolve, genomic testing may evolve to become an increasingly important tool in the fight against breast cancer, offering patients more targeted, effective, and patient-centred treatment options.
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