2023-11-07 17:03:39
Faster tests, family history checks during the first screening mammogram and comprehensive care of families at risk. These, in short, are the requests contained in the document ‘Breast cancer with mutation of the Brca1 and Brca2 genes’ presented today in Milan to the regional institutions, together with a Manifesto with 4 Key points, in an event organized by Fb & Associati with the non-conditional contribution from Pfizer. The project which underlines the value of precision medicine and diagnostic tests to be extended to a national level – specifies a note – is part of a journey started in 2022 which brought together a group of experts, scientific societies and patient associations around a table and Institutions, which led to the drafting of a Policy brief containing a national call to action.
The Lombardy Region has invested in and strengthened genomic profiling tests, screening, surveillance programs for early diagnosis and has joined the assignment of the D99 exemption to women and men with the Brca mutation in order to offer this category free of charge specialist services related to prevention are at risk. It also envisaged the regional Pdta for the management of people at risk and/or with breast cancer, defining a shared multidisciplinary clinical and organizational path. But this is not enough.
“We recognize the courage and strength of the women and families who face this challenge – states Emanuele Monti, president of the IX Permanent Commission on Social Sustainability, Home and Family in the Lombardy Region – and we know that there is still a lot of work to do. The regional institutions are committed to promoting prevention, research and access to high-quality treatments for patients affected by these genetic mutations”. As underlined by Paola Bocci, secretary of the Lombardy Region Commission itself, “we recognize that this challenge requires a multidisciplinary approach and collaborative. We firmly believe that only through a synergy between institutions, research and development, and close collaboration with patient associations and clinicians, can we achieve significant progress in the prevention, diagnosis and treatment of this disease.”
Even for women with the BRCA mutation, the criticality of the waiting lists persists, not only in Lombardy. “The women in whom the mutation has been identified – recalls Loredana Pau, vice-president of Europe Women’s Italy – are basically asking for quicker access to surveillance services. We also ask that familiarity be verified upon first access to the screening mammography”.
Currently, a significant share of mutation carriers, equal to approximately 15-20%, is not identified. “These mutations – observes Alberto Zambelli, associate professor of Medical Oncology at Humanitas University and section head of Oncological Senology at the Humanitas Irccs Oncology Center in Rozzano, Milan – are not so rare and become targets of treatment for different therapeutic choices. The old scheme of criteria very selective to allow access to the test and exclude others, today it must be remodeled – he clarifies – precisely to intercept those who are carriers of the mutation without knowing it. We are talking about the healthy population and the need to activate public health interventions, which must certainly be addressed in a ‘pharmacoeconomics perspective’.
The issue is not just Lombard, but national. The genetic test, if carried out on all citizens, requires a significant investment on the part of the State which, however, in the long term would provide savings compared to a possible development of the disease in the same family in subsequent years. In this logic, however, it is necessary that the costs of the tests are reduced and that the management and personnel involved are adequate in terms of resources. Speaking of personnel, “a psycho-oncology service must also be structured within the Breast Units, which is not always adequately present at the moment”, highlights Alessandra Huscher, president of the Susan G. Komen Italia Regional Committee.
Today, “women – clarifies Gabriele Martelli, oncologist and breast surgeon Sc General Oncology Surgery 3 Senology of the National Cancer Institute of Milan – are aware of what a diagnosis of cancer means and they know what risks the presence of a genetic mutation. They want to be reassured, but above all informed and with scientific data in hand” to “choose the best path”. “In this regard – he continues – on 4 October we published in Jama Surgery a scientific work which demonstrates, in operated patients of breast cancer and carriers of germline Brca 1 or 2 mutation, a significant improvement in survival in those who have performed a prophylactic salpingo oophorectomy compared to those who have not performed it. Not only due to a clear decrease in mortality from ovarian cancer, which has a high incidence in mutated patients especially Brca1, but also for a protective effect in terms of reduction in mortality from breast cancer which is found above all in patients with triple negative breast cancer”.
Speaking of tests, in the last two years, the Ministry of Health has made a fund available for the implementation of the use of the Ngs (Next Generation Sequency) platform which, however, is still very limited in Hubs with very strict requirements. In the Lombardy Region there are 13. “We cannot remain in a similar reality in which there is one region that works well and others less – remarks Giancarlo Pruneri, Director of the Department of Diagnostic Pathology and Laboratory – Fondazione Irccs National Cancer Institute of Milan – Structuring a network of laboratories in each region is very useful and pragmatic. Today we know that in the case of families with a strong component of oncological diseases but negative BRCA tests, we must look for other mutated genes, such as Palb2, Atm and Chek2. We must therefore think about extending the research panel to these ‘critical’ genes too, and this requires Hubs with cutting-edge equipment and specialized personnel”.
The request therefore starts from Lombardy to create a dedicated path in each region, the creation of Hubs and Molecular Tumor Boards, multidisciplinary groups that allow an acceleration of diagnostic and management times. The various patient associations are also ready to network, “it is a necessary collaboration – conclude Pau and Huscher – in order to develop common objectives. And best manage an information campaign throughout the national territory.”
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