Could it be useful to subject not only healthy members of family members carrying the mutation but also the general population in the age group at risk for breast and ovarian cancers caused by these mutated genes to genetic testing for BRCA mutation? This is the hypothesis put forward by an Italian study recently published in The Breast journal, which also evaluates the ethical aspect and social impact of screening on the entire healthy population, to which is added a possible positive influence on health expenditure thanks to the reduction of costs due to late care.
Mutation linked to the risk of breast, ovary, prostate, pancreas cancer
BRCA tests are valuable both for identifying the most appropriate and effective personalized therapies in cancer patients carrying the mutation, and for adopting the appropriate prevention measures in healthy people who are carriers of the mutated BRCA genes (those famous for having pushed the actress Angelina Jolie to undergo a mastectomy and the removal of tubes and ovaries to avoid getting sick). The mutation to date has been linked to an increased likelihood of developing breast, ovarian, prostate and pancreatic cancers. The test can be performed in two ways, with a simple blood sample or with the analysis of tumor tissue and today and the National Health System guarantees its execution free of charge to all people in whom it is indicated, female or male, healthy or already cancer patients, with different access criteria depending on the region of residence (the reimbursement scheme currently varies from region to region). There are several laboratories in Italy, whether or not affiliated with the NHS, in which it is possible to carry out the test: for healthy people, who have suspicions because there are several cases of cancer in the family, the offer of the test organized through a consultancy process genetics.
Targeted therapies and prevention for healthy carriers
The genetic test for breast and ovarian cancer of the hereditary type linked to mutations of the BRCA gene is currently administered, after genetic counseling, using very stringent guidelines and which indicate the probability of having an access threshold to the test. BRCA mutation greater than 10% – explains Marco A. Pierotti, author of the study on The Breast and scientific deputy director of Cogentech Societ Benefit belonging to the FIRC Institute of Molecular Oncology in Milan -. The results of our analysis indicate that a population screening would represent a more accurate preventive intervention than the current guideline-based approach to reduce the risk of breast and ovarian cancer and, for health systems, a beneficial model. in terms of cost reduction. Since about 20 years ago the geneticist Mary-Claire King localized, on their respective chromosomes, the genes BRCA 1 and BRCA2, believed to be responsible for the susceptibility that some families showed more than others to the development of breast and ovarian cancers, a long way has been made on the methodologies used for the identification of these particular cancer patients, as identifiable when still healthy. Much has been done both on the therapeutic front, with the development of new drugs aimed at contrasting neoplasms in which the mutation plays a decisive role (for example PARP inhibitors), and on the prevention front for healthy family members. , for which targeted surveillance and cancer risk reduction strategies have been studied.
Benefits also for mil health system
And there is still a lot of room for improvement, first of all in the interception and positioning within the health systems of these – underlines Pierotti, who is also director of the Cancer Genetic Test laboratory in the same structure. The current guidelines, in fact, take into account particular characteristics of the patient’s personal and family history and clinical criteria that give a probability of having a BRCA mutation greater than 10%, as a threshold for accessing the test. But this threshold could limit the inclusion capacity of some patients affected by mutations in the BRCA gene who, not fully satisfying the election criteria, could be lost or misunderstood, with consequent repercussions not only on their health and that of their family members – underlines Filomena Ficarazzi, first author of the study alongside Pierotti -, but also with important economic implications on health systems, given the general increase in costs due to late diagnosis and the related more expensive and invasive treatments. How many and what advantages would the introduction of population screening for the identification of BRCA mutated subjects bring, in terms of ethics and economic resources? The answer that emerges from the study is certainly multiple – replies Pierotti -. Following the guidelines, it is estimated that there is a lack of detection of about 50% of mutated cases in patients with breast cancer. On the other hand, a population screening would allow the identification of a higher number of subjects with BRCA mutation, their introduction into targeted care pathways, the saving of expensive diagnostic investigations when subsequent to a failure to detect the disease promptly and a lowering of the costs of the tests. genetic, which boil down to a huge benefit for health systems. Finally, the study shows that the costs borne by health systems would decrease, as well as the cost of individual tests – concludes Ficarazzi -. According to some simulations, the latter would not exceed a few hundred euros per patient and would lead to the enormous advantage of being able to invest the resources saved in diagnostic implementation.