The personalization of care also involves new diagnostic tools such as genomic tests which are able to identify, with greater precision, women who can really benefit from chemotherapy and those who can do without it because they would have no benefit from it. In Italy there are around 13 thousand women with breast cancer who could benefit from genomic tests every year, yet there are still many access difficulties despite these diagnostic tools having been available free of charge for two years. It was discussed today in Rome at the national conference ‘Next perspectives. From the constellation of regional health systems to a new scenario of application of genomic tests in Italy’.

What are genomic tests

Genomic tests are gene profiling tests that are now fundamental for selecting treatments in cases of Hr+/Her2 negative early cancer at intermediate risk of recurrence or metastasis. “Female breast cancer is the leading cause of global cancer incidence and there are estimated to be over 2.3 million new cases worldwide every year,” she says Francesco Cognetti, president of Foce (ConFederation of Oncologists, Cardiologists and Hematologists) and scientific director of the Rome event. “All the scientific evidence has underlined how genomic tests are able to identify, with greater precision, women who can truly benefit from chemotherapy and those for whom the benefits are absent. Aggressive and disabling treatments and a whole significant series of side effects and direct and indirect costs can be avoided and limited.”

How many women could do genomic testing?

During the event in which over 100 specialists participated, data was also presented on the number of patients who could access these tests: “Based on new epidemiological data and other parameters coming from international scientific literature – explains Carlo Tomino, pharmacologist and former director of the Italian Medicines Agency – we have evaluated the number of women for whom we can request genomic tests. The estimate, compared to that of 2021, must be updated to around 13,000 possible candidates. Insights from the scientific community are always necessary whenever a new tool or innovative technology is established. Especially when these allow us to make the best use of healthcare resources and improve the quality of life of our patients.”

Access difficulties

The use of genomic tests is increasingly widespread, but this does not yet happen regularly in our country. “For about two years – he adds Alessandra Fabi, national councilor of the Italian Association of Medical Oncology (Aiom) – the tests are actually available and free in all 21 Italian regional health systems. However, there are still difficulties in accessing tests in certain areas of the Peninsula. We sometimes see an underestimation by some specialists of the advantages induced by the tests. It is clear that we must promote them more with targeted educational activities and thus increase their use”.

The uncertain cases

In July 2021, the decree of the Ministry of Health was published in the Official Journal for the allocation method and requirements for using the fund for genomic tests for early-stage hormone-responsive breast cancer. “It was a long-awaited provision which followed the allocation of 20 million euros for the purchase of exams decided months earlier by Parliament – he recalls Cognetti. This provision indicated and established, among other things, the categories of women at low or high risk and the so-called uncertain cases: in this intermediate group the tests provide information on the clinical outcome, regardless of the treatment”.

Genomic tests available

What are the most reliable genomic tests currently? “Among the four available so far – replies Cognetti – the Oncotype DX® test is currently the genomic test with the greatest amount of scientific evidence to support it. It uses the qRT-PCR technique and analyzes 21 genes: 16 oncogenes and 5 reference genes. It is indicated in the most important international and national guidelines for its both prognostic and predictive capacity regarding the benefit obtained from the addition of chemotherapy to hormone therapy alone”.

The importance of early diagnosis

At the moment, breast cancer is the most frequently diagnosed cancer in women in Italy. Most likely – Fabi underlines – the incidence will continue to grow if we consider the main risk factors such as age, incorrect lifestyles, reproductive and hormonal factors, family history or heredity. It is clear that, if we want to increase survival and recovery, we must further increase the number of early diagnoses. At the same time, we must increasingly be able to personalize treatments by adapting them to the individual case.”

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