Medical genetics, personalized preventive medicine in L’Aquila

Medical genetics, personalized preventive medicine in L’Aquila
Medical genetics, personalized preventive medicine in L’Aquila

An investment in terms of innovation and professional training to relaunch the Medical genetics of the L’Aquila hospital, directed by Professor Francesco Brancati, enhancing prevention and preventive and personalized medicine, developing specific molecular tests and setting up clinics dedicated to specific diseases.

This is the project developed by Asl direction, in synergy withUniversity of L’Aquila, which will take its first steps with i oncogenetics tests, for now mainly reserved for women. The first tests will be carried out in the coming weeks and will concern the breast, ovarian and other diseases of oncological predisposition.

Genetic tests, which will be performed on patients selected according to certain criteria, will be used to identify the variants of DNA also on family members not affected by tumors, activating personalized prevention protocols. In this perspective, it is fundamental training of specialized personnel, in particular of a nurse to be trained according to the model of the genetic nursing anglosassone. This figure will have the task of explaining to the patients the aims and objectives of the genetic test during all the diagnostic process: a crucial phase to fully understand the importance of the tests to which one undergoes.

Another female trend, on which the medical genetics service will invest, is that of prenatal diagnosis, for which the process has already begun to reach the opening, scheduled for September, of new clinics and the introduction of new specific tests. There will thus be a service reserved for pregnant women through a care pathway which will run from the date of pregnancy to delivery, in close collaboration with the hospital’s gynecology. An important novelty that will allow women to have genetic testing services among the most advanced in the world, thanks to an agreement with the University. In the coming months, with the availability of the new premises, they will be activated specific (thematic) clinics for rare diseases, neurological and neurodevelopmental diseases, as well as for the cardiovascular prevention.

“I thank the medical director, Alfonso Mascitelli and the General Manager, Roberto Testa”, he claims Professor Brancati, “For the attention dedicated to medical genetics, a rapidly expanding discipline that can act as a driving force for all specialist branches”.

The overall project to relaunch the hospital’s medical genetics will include, thanks to the use of bioinformatics services of the University of L’Aquila, also the introduction of reading methods e integration of genetic data with health data and the use of the geolocation to start campaigns of screening together with local medicine.

“The process of enhancing medical genetics”, says the manager Head, “Represents a crucial stage in prevention strategies and the pandemic itself has reiterated the importance of having effective molecular diagnostic structures. The constant and fruitful dialogue with the Rector of the University, Edoardo Alesse, and with prof. Guido Macchiarelli, director of the Mesva department “.

Among the first in Italy, in the University and Health sector, the Chair of Genetics was established by Professor Giuseppe Del Porto at the University of the capital in the mid-1970s and led by the professor since 1999 Elvira D’Alessandro with the complex operating unit of Medical Genetics at theSan Salvatore Hospital.

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