Knowing if you are a carrier of the mutation helps those diagnosed with breast, ovarian, prostate and pancreatic cancer to determine the most effective therapies. And to healthy family members, who are most at risk of getting sick, for prevention
The mutation of the BRCA genes (those that have become famous for having pushed the actress Angelina Jolie to undergo a mastectomy and the removal of tubes and ovaries in order not to get cancer) not only a female issue because it has been linked to an increased chance of developing breast, ovarian, prostate and pancreatic cancer. And it is not only of interest to patients, but also to their healthy family members: the tests available to verify the presence or absence of the alteration of the BRCA1 and BRCA2 genes are in fact precious both for identifying the most appropriate and effective personalized therapies in patients who already have a diagnosis of cancer, both to adopt the appropriate prevention measures in healthy people who are carriers of the mutated BRCA genes.
Tests and patients’ rights: too many differences between regions
Prevention, treatment and rights of the sick and family members were discussed in recent days at the Gemelli Hospital in Rome during the conference BRCA and beyond: new targets, old boundaries promoted by the aBRCAdabra association, the first born for carriers of BRCA oncogenetic mutations. About 150 thousand people of both sexes carry the mutation in Italy, more or less one in 400 – says the president of aBRCAdabra, Ornella Campanella -. Many are unaware, unaware of the existence of the genes and the test and, even when it is indicated, have not undergone it because they are discouraged or not adequately addressed. There is also no Italian register of people carrying the mutation, which prevents us from having a clear idea of the extent of their problems. And then there are things to complicate many regional differences in the execution of this examination, which is not reimbursed uniformly on the national territory. In our country, in fact, the National Health System (NHS) guarantees the exam free of charge to all people in whom it is indicated, female or male, healthy or already suffering from cancer. But to do this there must be a clear utility, established according to precise criteria that are the same throughout the national territory. The BRCA test can be carried out within the NHS with different access criteria depending on the region of residence: in practice, the reimbursement regime varies according to the territories.
What changes for those with the mutation
Intercept a healthy carrier (i.e. a person positive for the BRCA test, but not suffering from cancer) allows us to offer him two prevention strategies: the first, a strict surveillance program with some diagnostic tests to be performed even every six months, other than the screening ones to which subjects the general population which allows in some cases (for example in breast cancer) to identify the possible onset of a tumor at a very early stage, which can greatly change the prognosis of the disease. The other way to offer preventive breast surgery (mastectomy) and possibly also of fallopian tubes and ovaries (adnexectomy), that is to remove those organs in which a neoplasm could be born with high probability. Surgical options require a multidisciplinary approach that is possible in many treatment centers in Italy (such as Breast Units and specialized ovarian surgery centers) – he says Alberta Ferrari, breast surgeon of San Matteo di Pavia -. The woman’s decision must naturally take into account her life choices, her personal and family planning, the desire for motherhood, the results of premature menopause and aesthetic and of course psychological aspects. The interested party must receive all the correct information so that she can freely choose when and whether to undergo the risk reduction surgeryknowing that at the moment the only strategy capable of significantly reducing the risk of developing a tumor in these two organs and in particular in theovary where, to date, there is not even the option of early diagnosis to focus on.
Oncological genetic counseling
Before taking the test, the person must perform a genetic-oncological consultation with a specialist – he points out Sunday Lorusso, gynecologist oncologist of the Gemelli Polyclinic -. After having reconstructed his personal and family history, it will be the specialist within a specific counseling who, following the criteria listed in the reference guidelines, will explain to the person whether it is appropriate to proceed with the investigation, where, what is the its meaning and what can be done if the outcome is positive. The test today also has a predictive value, that is, it indicates the possibility for patients to respond to targeted and suitable therapies for their pathology.In fact, there are drugs that are particularly effective in patients with a BRCA gene mutation – adds Lorusso -. The so-called target therapies are not decided on the basis of the single organ, but on the basis of the “target” to be hit. Today, more than 30% of cancer patients (with ovarian cancer, for example) could receive targeted therapy starting from genomic analyzes that detect the presence of DNA alterations. Take care with women who have breast cancer to have the genetic test in time for choose the best surgery and not having to re-intervene perhaps after radiotherapy with a greater risk of complications – continues Ferrari -. For women with BRCA mutated breast cancer the scientific community is quite unanimous in recognizing that bilateral mastectomy is the first choice option especially if the patient is young and at the first oncological event, given that the risk of developing contralateral tumor is 80%. For healthy women, however, care must be taken to understand and select those who have made the choice with strong motivation.
What are the problems still to be solved
The current state only 7 Regions have approved the high risk PDTA (Diagnostic Therapeutic Assistance Path), that is the document that clearly defines who must do what, how, in what way and in how much time. Without this, people have no clinical points of reference, they move between healthcare facilities in search of answers, they waste money perhaps by carrying out additional services, they move to other Regions because they do not know that they could be treated adequately in their own Region – highlights Campanella -. In only 9 Regions the resolution that has the code D97 or D99 was approved, which allows the free diagnostic services provided for by the surveillance protocol. The annual cost of these services varies from 500 to 1,000 euros per person for each year. What if there are several carriers in a family? What if people can’t afford it? The risk that the tumor is not intercepted in its earliest stage with sometimes fatal consequences. The aBRCAdabra association also went to deepen the 9 resolutions and they all turned out to be different: the type of diagnostic test changes, at what age to start and for how long to continue the checks. Some only cover performance in women, others have updated and include men as well. All then leave out the coverage of many benefits, such as visits with a psychologist, inflation of expanders after preventive surgery, disorders and consequences of menopause. It’s still: risk reduction surgery not included in Lea (Essential levels of assistance), so in practice the hospital carries it out at his own expense because the NHS does not provide for it to be reimbursed. so paid very little, as a simple breast surgery, while it costs a lot and the reconstructive process requires well over the 15 days foreseen for checks.
March 15, 2022 (change March 15, 2022 | 19:27)
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