ELENA lives in Modena and knows she has a mutation in the Brca1 gene: it means that she has a high risk of developing tumors in the ovary, breast, pancreas and, although to a lesser extent, in other organs, such as the colon. He inherited it from his father Lino, who therefore also has a higher risk of getting the same tumors – including those of the breast and with the exception of the ovary (obviously), which is however replaced by the prostate. Luisa is in Palermo, she too is Brca-mutata. Michele is from Naples, Giorgia from Mestre. If the type of mutation is the same, will there also be the same pathway for active surveillance (i.e. early detection of any tumors)? Or not? Certainly not. And, needless to say, the exemption provided for these exams – which must be frequent – also varies from region to region. The aBRCAdabra association, which presented the data yesterday, during its annual scientific conference, at the Agostino Gemelli University Hospital Foundation in Rome, took an updated photograph of what is happening in our 21 health “districts”.
“Of our 21 Regions and Autonomous Provinces, 13 do not have a Diagnostic-Therapeutic-Care Pathway (PDTA) due to the high risk, and 11 do not provide for the D99 exemption that covers surveillance exams”, summarizes the picture, a to say the least discouraging and inhomogeneous, Ornella Campanella, president of aBRCAdabra. Let’s give the names, which are the result of an enormous work by the association: Emilia Romagna (which was the forerunner, already in 2012), Liguria, Veneto, Tuscany, Sicily and Campania have both a PDTA and an exemption ( but all not with the same code). Lombardy, Piedmont and Puglia have only the exemption, Lazio has only the PDTA. Only 5 regions provide the path / exemption also for men (Veneto, Tuscany, Sicily, Campania and Puglia).
Prevention? You often pay for it out of your own pocket
To understand the contradictions: “Lazio has a PDTA, but no exemption, so women who want to make an early diagnosis have to pay for it themselves. Piedmont, Lombardy and Puglia, on the contrary, guarantee the exemption, but have not defined a regional level what this surveillance path is to follow. But if the surveillance services are not within a regional PDTA, fragmentation is created, with the risk of wasting money and not really securing families “.
Going to read the resolutions it turns out, moreover, that the path is the most varied: the risk of pancreatic cancer is taken into consideration only in Sicily, the risk for colon cancer and melanoma only in Sicily and Campania ( although it cannot be said that doing more always means doing better, in the absence of strong scientific evidence). In other cases, only the risk for ovarian and breast cancer is considered. And, remaining on breast cancer, there are those who reimburse breast ultrasound from the age of 25, those from 18, those from 30. Wide variability also for the age group in which mammography and magnetic resonance imaging is reimbursed.
Many performances excluded from Lea
“We detect a great lack of homogeneity – continues Campanella – and yet, in theory the sources from which to draw inspiration should be the same for everyone. What does it mean? That based on where you live you have different possibilities. So there is a problem, not to mention the fact that many of the performances are not even in the Essential Levels of Assistance (LEA). I refer, for example, to the psychological support of people with the BRCA gene mutation or some breast reconstruction services for those who choose prophylactic mastectomy. trivial: when a definitive prosthesis cannot be put on immediately and the expander is used (a sort of temporary balloon, ed.), lipofilling and progressive inflation are not foreseen, therefore patients have to meet this expense with their resources for several weeks. ”
The requests of the patients
The association called the Italian Association of Medical Oncology around a table to team up. Eight requests: to make PDTAs homogeneous for the high inheritance-family risk according to models based on scientific evidence; extend the D99 exemption to all regions; review and standardize the list of reimbursed benefits; promote the involvement of the local area, primarily general practitioners who are often unaware of the high risk; identify regional hubs for high risk and ensure that people can know the centers they can turn to in a simple and clear way, within an institutional space; include risk reduction surgery in LEAs; build a national registry to understand the Italian epidemiology of BRCA mutations; integrate contact with fertility preservation centers into PDTAs. “These documents are not pieces of paper, but they change people’s history”, underlines Campanella: “And they also help us to direct them to the centers recognized by the Regions. The advantage we want to guarantee is one: the right to health. the primary collective interest of institutions, the scientific community and ours, that we are the patients’ ‘advocates’ “.
Claudia, who has learned to listen
Claudia’s story demonstrates that we are talking about lives and not pieces of paper. Before her, her paternal aunt became ill: a breast cancer diagnosed many years ago and then a second cancer, also in the breast, in 2018. That same year, a few months later, her sister also fell ill, at the age of 42 years old. The report is that of a triple negative, aggressive breast cancer, and the BRCA test is positive: there is an inherited mutation in the BRCA1 gene. Claudia, 32, now tells her story, and that of her family, in front of an audience of doctors and patients: “I took the test thanks to my sister. I also tested positive and at first it was hard to receive that one. answer and a lot of information that followed. Nobody can be prepared to listen to what doctors will tell you, if you have a mutation. Most of all, I realized that my head just didn’t want to listen. “
The doctors had talked to her about possible paths and choices to make: early diagnosis, with magnetic resonance imaging, ultrasound; or the prophylactic surgery, with the removal of the two breasts and, further on, the ovaries …. It all seemed exaggerated: “I had absolutely not understood the gravity of the situation or the urgency. triple negative breast cancer, of genetic risk, of mutations. Only after a few months, looking on social networks, I found the association aBRCAdaBRA, and my eyes opened. Read many stories of other families like mine, of girls who they had cases and cases among relatives, or who had fallen ill at 20, suddenly made me aware of what I was experiencing. I only realized then that it was serious and finally I began to listen to what the doctor was saying ” .
Refusal and the temptation to postpone
Still, however, Claudia would have liked to wait, postpone the process: “I was thinking about the surgery and I said to myself: later, now I have to get married, then I have a child so I breastfeed him, and then I put myself on the waiting list. It was nonsense and this once my sister thought about it to make me understand. She looked me in the eye, reminded me that her tumor had developed very quickly. She was afraid of not being able to see her children go to middle school, as unfortunately it did, because she left us a few months ago “.
“I have never regretted having done the surgery – continues Claudia – and I also did it for her children: I hope that my niece in the future, when she will take the test, if it is positive, she will be able to look at me and know that it will go everything is fine. And I hope to have a son too, to whom I can tell that everything is fine “.
Understanding the importance of genetic testing
Claudia has an important message to give, or rather two: one for those who receive the positive result of the BRCA genetic test, so that they learn to listen and understand its importance and every consequence. And one for doctors to learn how to communicate with patients. “I too, in my path, I met health workers who suggested that I wait to have the surgery, because ‘I was so young’ – explains Claudia – This creates a great confusion in us. I realize that it is very difficult to communicate what involves having a BRCA mutation. I needed the comparison between peers: it is very important that there is an association like aBRCAdaBRA and perhaps oncologists should advise all BRCA mutated patients to contact her and listen to what those who have already been through it have to say “.
The register “of” Fabi
During the conference, the first scholarship dedicated to Fabiana Gregori, co-founder of the association, who passed away due to BRCA-associated breast cancer in 2016, at the age of 36, was also presented. “It was exciting to deliver the first aBRCAdabra scholarship named after Fabiana Gregori”, concludes Alberta Ferrari coordinator of the association’s Technical Scientific Committee: “The winner is a young biologist, Francesca Doyle, and the study will be coordinated by me, Matteo Lambertini (Genoa) and Domenica Lorusso (Rome) on a project born from an intuition of Fabiana , or the need to start a sort of registry that collects the data of Italian people positive for the BRCA mutation. The initiative stems from the absence of epidemiological and clinical data of the Italian BRCA population: we start from those of the people who belong to our network “.