In Italy, women living after being diagnosed with breast cancer have increased by 20% in eight years (from 692,955 in 2015 to 834,200 in 2023). Early diagnosis and advances in therapies have contributed to this important result. It is estimated that there are approximately 13 thousand potential candidates for genomic tests every year, capable of identifying patients with early-stage disease in whom, after surgery, chemotherapy is actually useful and cases in which therapy is sufficient hormonal. But in 2024 in Italy, based on estimates, only 9,000 tests will be performed. For more than three years, these gene profiling tests have actually been available and free in all 21 Italian regional health systems, however there are still difficulties in accessing them in certain areas of the Peninsula. To raise awareness among institutions, clinicians and patients on the importance of these molecular analyzes and on the need to expand the number of eligible women, the first observatory on genomic tests is launched. This is a real working table, coordinated by the Aiom Foundation and presented at a press conference at the 26th National Congress of the Italian Association of Medical Oncology (Aiom), underway in Rome.
“The Observatory’s first initiative is a position paper, i.e. a guidance document for the Regional Institutions and the General Directorates of hospitals, which will be ready by mid-2025 – states Saverio Cinieri, president of the Aiom Foundation -. Italy has adapted only in 2021 to the use of these molecular analyses, consolidated in the rest of Europe for over a decade, and we are still experiencing a significant delay compared to the practices adopted in other countries. The decrease in the improper use of chemotherapy translates into a benefit clinical treatment for patients, who are no longer exposed to excessive treatment and the related risk of toxicity, with an improvement in the quality of life. Not administering unnecessary chemotherapy, as well as reducing anxiety and the burden of suffering and discomfort for thousands of women, also determines a favorable impact on healthcare spending, which represents a fundamental element that clinicians also have to deal with. The average cost of chemotherapy cycles amounts, in fact, to more than 7,000 euros for each patient. On the other hand, genomic tests can help identify patients in whom chemotherapy is necessary and would not be performed without these analyses. The Observatory wants to contribute to a wider and more informed use of genomic tests and to a better knowledge of them. A social campaign will also be created with video interviews and talk shows.”
In 2023, in Italy, 55,900 new cases of breast cancer were estimated, the most frequent in the entire population. Significant progress has been made in the treatment of the disease, which has a 5-year survival rate of 88%.
”However, it should be considered that the recurrence of breast cancer can occur even 20 years after the initial diagnosis, especially in women with hormone receptor-positive carcinoma – explain Giuseppe Curigliano and Nicla La Verde, members of the AIOM national board -. Adjuvant chemotherapy treatment performed after surgery, it reduces the risk of recurrence, and the decision on whether or not to carry it out is traditionally based on the characteristics of the patient and the tumor, while for breast cancers that express the Her2 protein and for triple-negative ones , which do not present any of the receptors (estrogen, progesterone, Her2) used as targets in available therapies, adjuvant chemotherapy is often essential and the benefit is evident, in tumors that express estrogen receptors but not the Her2 protein, however, the advantage The addition of adjuvant chemotherapy to hormone therapy is, in some cases, controversial.”
Approximately 70% of breast cancer cases are luminal, i.e. they express estrogen receptors but not the Her2 protein (ER+/Her2-). “After surgery – continues Cinieri – systemic treatment involves the use of hormonal therapy in cases considered to be at low risk or the addition of adjuvant chemotherapy to hormonal therapy, in the presence of a high risk. In ‘intermediate’ risk luminal disease of recurrence or metastasis, however, there is significant therapeutic uncertainty as to when it is possible to omit chemotherapy or when, instead, it is necessary to administer it. Hence the importance of genomic tests”.
Genomics applied to breast cancer allows us to characterize breast tumor tissue and predict the probability of recurrence after surgery and response to therapies. “Anatomical pathologists can support the multidisciplinary team of the Breast Unit in choosing the best treatment, thanks to the molecular characterization of tumors – underlines Giancarlo Pruneri, director of the Pathology Department at the Irccs Foundation National Cancer Institute of Milan -. The results of the Genomic tests are useful to evaluate the prognosis and the probability of benefiting from the addition of adjuvant chemotherapy to hormone therapy in women with hormone receptor-positive and Her2-negative breast cancer function of their prognostic and predictive value. There are mainly five tests available on the market for analyzing gene expression profiles in breast cancer. To date, Oncotype DX is the multigenic test with the greatest number of supporting scientific evidence oncogenes and 5 reference genes”.
Oncotype DX is indicated in the most important international and national guidelines for its prognostic and predictive capacity, such as those of the American Society of Clinical Oncology (Asco), the European Society of Medical Oncology (Esmo), the St. Gallen International Breast Cancer Conference and the National Comprehensive Cancer Network (NCCN).
Interview: Time.news Editor & Saverio Cinieri, President of the Aiom Foundation
Editor: Welcome, Saverio. It’s great to have you here to discuss the recent advances in breast cancer treatment and the establishment of the first observatory on genomic tests in Italy. Let’s start with some promising news: the number of women living after a breast cancer diagnosis in Italy has increased significantly over the last eight years. How do you explain this positive trend?
Cinieri: Thank you for having me. Yes, it’s an encouraging development. The 20% increase in women surviving breast cancer is largely attributed to early diagnosis and advancements in therapies. Our healthcare system has been able to embrace innovative treatments and provide better support, which has a clear impact on survival rates.
Editor: That’s wonderful to hear! Part of this advancement includes the use of genomic tests. Could you explain what these tests are and their importance in breast cancer treatment?
Cinieri: Certainly. Genomic tests help identify specific characteristics of the cancer, enabling healthcare providers to determine whether chemotherapy is necessary after surgery. This personalized approach significantly reduces the use of unnecessary chemotherapy for many patients, thereby improving their quality of life while also minimizing healthcare costs. Unfortunately, despite their availability, we estimate that only 9,000 tests will be performed next year, despite there being around 13,000 potential candidates annually.
Editor: It seems there is a gap between availability and actual usage. What do you think is causing this discrepancy in access to genomic tests across different parts of Italy?
Cinieri: Absolutely, access issues play a significant role. Although these tests have been available for free across all regions since 2021, administrative difficulties and a lack of awareness about their benefits still exist. The launch of the observatory aims to tackle these challenges by raising awareness among institutions, clinicians, and patients about the importance of these tests.
Editor: What specific initiatives will the observatory undertake to improve access and education around genomic tests?
Cinieri: One of the first initiatives is creating a position paper by mid-2025 to guide regional institutions and hospital directors on best practices. We also plan to conduct a social campaign, including video interviews and talk shows, to share insights on genomic testing’s role in personalized treatment.
Editor: That sounds like a comprehensive approach! Now, while we celebrate the increase in survival rates, we know that breast cancer can still recur even decades later, particularly in hormone receptor-positive cases. How does this influence patient treatment decisions?
Cinieri: Recurrence is a crucial consideration. Decisions about treatments like adjuvant chemotherapy depend on the specific tumor characteristics and individual patient profiles. For many luminal cases, the treatment will involve hormonal therapy or a combination with chemotherapy if the risk of recurrence is deemed high. The complexities of treatment underscore the need for comprehensive evaluation through genomic tests.
Editor: With approximately 70% of breast cancer cases being luminal, how can genomic tests further refine treatment options for these patients?
Cinieri: Genomic tests serve as essential tools in determining the appropriate treatment course. For patients classified as having “intermediate” risk, these tests can help define whether to pursue hormonal treatment alone or to combine it with chemotherapy. This tailored approach can improve patient outcomes, reduce unnecessary side effects, and bolster overall healthcare efficiency.
Editor: It really highlights the critical need for more widespread adoption of genomic testing. In light of these developments, what are your hopes for the future of breast cancer treatment in Italy?
Cinieri: My hope is that by raising awareness and improving access to genomic tests, we can make significant strides in how we manage breast cancer. Incorporating these tests into routine care can transform treatment paradigms, lessen the emotional and physical burdens on patients, and enhance the quality of life for thousands of women.
Editor: Thank you, Saverio, for sharing these insights. It’s inspiring to hear about the advancements and the initiatives underway. The establishment of the genomic test observatory is a promising step, and I look forward to seeing how it influences the breast cancer landscape in Italy.
Cinieri: Thank you for having me. Together, we can make a difference in the lives of many.
