Written on .
It has been available for a few weeks in the IRST “Dino Amadori” IRCCS Biosciences Laboratory un new genomic test that will make it possible to combat advanced-stage ovarian cancer more effectively. The test, performed on tumor tissue using next generation sequencing (NGS), will provide oncologists useful elements to select the most effective treatment based on the genetic characteristics of the patients. In particular, identifying the patients HRD positive (about half of women with this form of cancer), will allow use a combination of targeted drugs recently approved by AIFA, which has been shown to be capable of long-term disease control with an improvement in quality of life.
The inclusion of the HRD kit in the already rich list of advanced tests that can be performed in IRST falls within the scope of the continuous improvement of molecular diagnostics in the oncological field, and is the result of the direct commitment of the Molecular Diagnostics Structure coordinated by dr. Daniel Calistriin particular of Drs Valentina Zampiga, Ilaria Cangini ed Erika Bandini who conducted the validation and routine introduction of the HRD genomic test.
About half of ovarian cancer patients show a deficiency in the mechanism of DNA repair by the genetic mechanism of homologous recombination (HRD), a process of “repair” of DNA essential for cell proliferation. These errors are mainly due to germline and somatic variants in the BRCA1 and BRCA2 genes, although other causes exist. “The test allows you to recognize – explains Dr. Zampiga – in addition to the mutational status of the BRCA genes, also the status of Homologous Recombination Deficiency (HRD) in the tumor tissue. This is an important milestone, as recognizing a situation of genomic instability will help identify which patients are most likely to respond to specific drug treatments based on their genomic makeup.”
Specifies Dr. Hugh de GiorgiDirector of the Clinical and Experimental Oncology Unit Innovative and high-dose therapies: “The clinical impact of such genetic tests can be decisive in a pathology such as ovarian cancer which often seems to respond to treatments but which tends to relapse into disease and become chronic. Thanks to the information provided by these tests, it will be possible to select and treat patients with specific drugs which, in the clinical study phase, have obtained promising long-term benefits, thus opening up opportunities for treatments that would otherwise not be possible. A tool, therefore, with great potential that we can offer to our patients.”
The HRD test, recently introduced in Italy, is nationally executable only in the context of structures that have specialist know-how and suitable instrumentation for its execution. In order, therefore, to promote the availability of the HRD test with a view to diagnostic appropriateness throughout the territory, Resolution 488 of last April 3 of the Emilia-Romagna Region indicated the IRST IRCCS Biosciences Laboratory among the three Hub Centers regional authorities authorized to perform this genomic test (the others are Bologna and Modena). To perform the test, the prescription of the oncologist of reference in IRST “Dino Amadori” IRCCS or AUSL Romagna is required. In this sense, it is a chance for the entire Romagna area, a further demonstration that only through collaboration between companies and institutions is it possible to access the highest levels of personalized medicine.
On an epidemiological level, in Italy, they are estimated at approx 5,200 new diagnoses of ovarian cancer each year. In many cases it is diagnosed in advanced stage and discovered occasionally during gynecological checkups. Element that affects survival 5 years after diagnosis, which today stands at 43%. Risk conditions include endocrine factors (infertility, first pregnancy over 35), family and genetic factors.
From left Erika Bandini, Valentina Zampiga, Ilaria Cangini and the head of the Molecular Diagnostic Area, Dr. Daniele Calistri