Breast cancer no longer exists and the many treatments available today are not being exploited to the fullest. In fact, one of the great achievements of scientific research in the last few decades is to have understood that there are many different subtypes of cancer (breast, but a speech that applies to all neoplasms) and that be able to identify key genetic mutations for each subgroup a decisive step. In this way, new therapies were then developed that were able to counteract those mutations that made the disease particularly resistant to treatment or aggressive and rapid in its advancement. More effective therapies, which if they do not always succeed in bringing about recovery, often greatly lengthen the life of the sick. But to choose among the many treatments the right one, that is, targeted against the alteration of the DNA present in the tumor of the individual patient, it is necessary to carry out a specific genetic test and today, in Italy, technologies and laboratories capable of performing these tests are in short supply and they are not evenly distributed throughout the national territory. what emerges from an IQVIA research that involved almost 300 Italian pathological anatomy departments and molecular biology laboratories to focus on the available technologies and their effective use to carry out gene sequencing tests.
Only a third of the laboratories equipped
Among the departments involved in the survey, carried out for Novartis, only 33% have gene sequencing technologies available and of these only 30% perform this type of breast cancer test. Not only that: although they are recommended by international guidelines, today these exams are reimbursed only in Lombardy, Tuscany and the Autonomous Province of Bolzano. We are facing a turning point in the treatment of breast cancer that requires the definition of diagnostic-therapeutic pathways that increasingly take into account advanced molecular diagnostics – he explains. Pierfranco ConteProfessor of Medical Oncology at the University of Padua and director of Oncology 2 at the IRCCS Istituto Oncologico Veneto -. The knowledge developed on the genetic causes underlying tumor growth has in fact led to define differentiated therapeutic pathways in breast tumors with particular genetic alterations, such as for example HER2 + tumors and BRCA 1-2 mutated tumors. They have recently been fine-tuned new target therapies, aimed at targeting specific mutations, such as the PIK3CA mutation. These innovations, in light of the current paradigm of diagnosis and treatment, require the development of new strategies, which put the role of molecular diagnostics and the collaboration between clinicians and laboratories in the foreground. The mutated PIK3CA gene present in approximately 40% of patients with HR + / HER2- breast cancer (subtype that represents about 60% of all breast cancers) and its presence is linked to a poor prognosis and a poorer response to endocrine therapies or traditional chemotherapy: this is why identifying it is particularly important in order to take advantage of the most effective drugs.
Create a new organizational model
The availability of advanced molecular diagnostic technologies and scientific discoveries on tumor genomics have profoundly changed the role of the laboratory, which today and increasingly in the near future will be the essential starting point of the diagnostic and therapeutic path for the treatment of breast cancer. – he comments Angelo Paolo Dei Tos, director of Pathological Anatomy at the University of Padua -. Today in the laboratory we are able to detect the mutation status of the genes involved in the growth of breast cancer, such as hereditary mutations of the BRCA1-2 gene and the frequent somatic, and therefore non-hereditary, mutation of the PIK3CA gene. Knowledge and technologies that, in order to be translated into clinical practice, require the implementation of a new model, to guarantee the availability of technologies and resources to the pathological anatomy departments to carry out gene sequencing tests and to foster collaboration between laboratories and oncology departments. In practice, it is first of all necessary that genomic tests are reimbursed by the NHS in all regions, but also a uniform distribution of technologies throughout the national territory to strengthen and expand the capacity of pathological anatomy laboratories to support oncologists in defining personalized therapeutic approaches. It is important that the tests are carried out quickly, because in some cases they allow to avoid chemotherapy in those women who have less risk of recurrence, in others (such as for the PIK3CA mutation) they help to choose the drugs to be prescribed to women with cancer breast already advanced, in the metastatic phase. Predictive molecular diagnosis must be guaranteed to all patients – concludes Dei Tos -: this has advantages both for patients and for the entire health system, because prescribing targeted therapies also allows economic savings. Finally information to women is a key element: increasing their knowledge on the opportunities offered by advanced molecular diagnostics is a fundamental step to involve them as an active and aware part in the diagnosis and treatment process.
May 3, 2021 (change May 3, 2021 | 19:27)
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