A blue and yellow dot – the colors of the Mutagens Foundation logo – to identify the hospitals capable of offering Diagnostic Therapeutic Assistance Pathways (PDTAs) to high-risk hereditary-familial patients. This is the initiative of the non-profit organization, with the aim of directing people to the most virtuous hospitals. In Italy it is estimated that there are 600 thousand carriers of constitutional pathogenetic variants, therefore at risk of developing hereditary-familial tumors, such as breast and ovarian cancers in women, prostate in men, but also in the colon, pancreas , skin and endocrine system, which affect both genders.
“For almost ten years, health legislation has provided for the implementation of clinical courses dedicated to those with family syndromes – explains Salvo Testa, president of the Mutagens Foundation -. Unfortunately, the delays and defaults are significant. Initially, we focused only on the typically female ones, in particular on the pathogenetic BRCA variants, ignoring the high number of men at risk of developing hereditary cancers and transmitting the mutation to their offspring. Today, moreover, the paths dedicated to the most common syndromes, such as HBOC (breast, ovary, prostate, pancreas) and Lynch (colorectal, endometrium, ovary), have been officially approved in less than a third of the regions and provinces. autonomous. These are critical issues on which we must act as soon as possible “.
What services do PDTAs provide
The actions envisaged by the PDTAs include first of all access to genetic and genomic tests, essential for identifying the type of mutation present and deciding if and how to intervene to better manage already ill subjects and those healthy at risk of the disease. For those sick, access to innovative personalized therapies (precision medicine, immunotherapy). For healthy ones, in addition to intensified surveillance, for an early diagnosis, it is possible in some cases prophylactic surgery, which involves the preventive removal of organs to avoid the formation of neoplasms. “As a Foundation we have decided to offer recognition to virtuous health centers, able to offer complete Diagnostic Therapeutic Assistance Pathways and specialized Multidisciplinary Oncology Groups (GOM Hereditary Syndromes). It is important that people know where to turn to obtain complete support – tests genetics and genomics, examinations, visits, surgical interventions, oncological therapies, psychological support, advice on prevention, fertility and responsible procreation, on psychological aspects – to make themselves and their families safe, thanks to the work of specialists able to recommend the best path for the individual case “, explains Testa. “We are also working to sign memoranda of understanding with these structures for the dissemination of information on hereditary syndromes, the organization of information and training events in hospitals and collaboration between structures. Later, in collaboration with some scientific societies. , we have an ambitious goal: to structure a process for obtaining a qualitative certification, aimed at improving over time the taking in charge in the largest number of centers equipped with these paths. It will require a lot of work, but we are sure of the benefits it can guarantee ” .
The theme of procreation
Today in Italy it is not possible – except in very rare cases – to access the pre-implantation diagnosis of embryos (PGT-M), within the NHS, in order to be able to interrupt the generational cascade of hereditary mutations. For this reason, through a memorandum of understanding with the scientific association NIDO, the Mutagens Foundation is preparing an ad hoc recommendation with a multidisciplinary team, made up of geneticists, gynecologists, andrologists, PGT and MAP specialists. They will be joined by jurists who are experts in issues related to procreation and pre-natal genetic tests. “We hope in this way to offer an opportunity to the many patients who today find themselves in difficulty and who are forced to resort to high costs in private facilities to satisfy their desire for responsible parenting”, underlines Testa.
The risks not to take
Without the identification of the hereditary syndrome, patients who are already ill cannot take advantage of personalized oncological therapies, such as those with molecular targets (PARP inhibitors, drug-combined antibodies, immunotherapy). “Today these techniques are more and more effective, they allow both to cure neoplasms and, in case complete remission is not possible, to make them chronic, guaranteeing a good quality of life. more organs at risk: it is therefore necessary to include sick patients in specific prevention and intensified surveillance protocols, precluded if the syndrome has not been identified “, concludes Testa. “Another ‘side effect’ of the shortcomings of pathways for high-risk subjects is that on healthy family members, who represent an even larger population than the sick one. In this case, primary and secondary prevention protocols (early diagnosis) are fundamental both to save many human lives, and to identify the tumor as soon as possible, in order to have the best weapons to deal with it “.