BRCA risk, the video poster with patient requests to improve care

BRCA mutations run in the family. Because if a patient with cancer discovers he has it, then all his family members have the possibility to know if they are carriers. And, therefore, if they are at risk of getting sick too. Of breast cancer (and it also applies to men) but not only: of ovarian, prostate, pancreatic cancer.

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Knowing this is an important opportunity for prevention and early diagnosis, but according to aBRCAdabra and 7 other associations, not enough is being done to exploit it. That’s why a poster. Better: a direct and concise (only 4 and a half minutes) video-manifesto born completely “from below”, with very specific requests to improve the management of genetic risk.

What are the associations asking for?

The associations know the critical issues and know what it takes to solve them. But they can’t do it alone. This is why they are asking for the collaboration of institutions and health professionals to:

1. Introducing quality criteria and certifications for the centers that carry out research on the BRCA genetic mutation. Currently, in fact, these tests can be performed, for a fee, even in laboratories that do not offer onco-genetic counseling either before or after, to explain the result and accompany any positive people on a path to managing high risk.
2. Diagnostic-therapeutic-assistance pathways (Pdta) for high risk based on scientific evidence, uniform, disseminated and approved in all regions. Currently, the PDTAs for high risk have only been approved in 7 regions, and with all different contents.
3. Recognize the D99 exemption (which guarantees free access to surveillance exams for healthy people with mutation) in all regions with homogeneous contents by age, organ, duration and gender. Currently, the exemption is recognized only in 9 regions, with great differences from each other (some only for women, some only for some exams, some only for some organs…).
4. Surgery for risk reduction (ie the preventive removal of breasts, fallopian tubes and ovaries) must be included in the Essential Levels of Assistance (LEA). Currently, hospitals are willing to pay for these operations, with the risk that access to the most innovative and best surgery depends on the economic resources of the individual centre.
5. Include onco-fertility preservation pathways in highly specialized centers in the Pdta for the high risk. Onco-fertility, sexual well-being and the management of early menopause are still topics forgotten by institutions and healthcare professionals.
6. Produce specific communication campaigns for BRCA-associated risk for men. Men carrying BRCA mutations can also develop different types of cancers, but I’m not aware of them.
7. Treating patients with complex pathologies in multidisciplinary structures, organized on the territory according to the model Hub and spoke. The multidisciplinary centers of reference are not distributed uniformly throughout the territory and the quality standards necessary to treat these neoplasms are not found everywhere.
8. Involving general practitioners and specialists to inform and make public opinion more aware. Without coordinated action we cannot be effective.

That’s why the 8 associations ask, with one voice, the establishment of BRCA Risk Awareness Day. “The BRCA is damned scary, but it allows you to open a window. Then you can choose whether to look out of that window and sew your own choice on yourself. But you have to give it, this possibility of choice”, he said Ornella Campanellapresident of aBRCAdabra during the presentation of the video-manifesto today at the National Press Room in Milan (it can be seen again on the association’s Facebook channel).

Review the access criteria for genetic testing

But in order to be able to open as many windows as possible, one of the needs is certainly to broaden the current criteria for access to the BRCA genetic test within well-defined assistance pathways. “The US and Canada have launched two pilot projects – he explained Alberta Ferraribreast surgeon and coordinator of the scientific committee of aBRCAdabra: “The former are offering the test to all patients with breast cancer, while the latter have activated a population screening for all women under 30. We will see the results. There are scientific assumptions, advantages and criticalities in carpet tests”.

There could also be some changes in Italy, since the association of medical oncologists, Aiom, is drawing up guidelines for other risks. “However, it should be remembered – continues Ferrari – that many people with mutations who could be intercepted with the current criteria, in fact are not, even where there are paths”.

This applies to patients with tumors best known to be associated with BRCA mutations, such as ovarian and breast cancer, and even more so for those tumors where the genetic risk is unacknowledged. Like pancreatic cancer, to which November 17th is dedicated.

“BRCA mutations are the only known biomarker for this pathology, and which can direct treatments towards some specific therapeutic protocols”, he says Piero RivizzignoPresident of Codice Viola: “It is estimated that approximately 5-8% of patients with pancreatic cancer are BRCA-mutated, which is not a low percentage, and that there is another 5% of patients who do not know they have mutation. Today we are here, among the 8 associations, also because knowing if one carries the BRCA mutation represents for us one of the very few weapons for early diagnosis. To date, 80% of patients discover the disease when it is now in the advanced”.

A gift and a promise

The funds that allowed the making of this video-manifesto are a gift. “A gift from Ariadne Fur, a friend and a young woman and mother, carrier of the BRCA mutation, who left us too soon”, continues Campanella. “His family and his many friends wanted to donate a contribution to his memory, and all the donated funds had to materialize in a strong project, of national scope. So this video is a promise to Arianna, her family and all the families we represent. The promise – he concludes – to give more and more people the opportunity to know and choose”.