Angelina Jolie’s choice raises the importance of genetic testing

"Angelina Jolie made a fine mess …" declares, in a positive tone, Doctor Maria Grazia Tibiletti, head of the cancer genetics counselling service – Anatomical Pathology, managed by Professor Sessa at the Ospedale di Circolo of Varese.

The revelation made by the popular American actress has turned the spotlights on an important issue: the genetic predisposition to breast and ovarian cancers. "In Varese, since 1994, this research has started in a pioneering way and since 2008 a specific service has been opened. We have effectuated, since then, over 200 consultations and 164 genetic testing, detecting 61 cases."

 

It all began with the research of the genes BRCA1 and BRCA2 and with their mutation. "If the genes mutate, the possibility to contract the two types of cancers is very high. In these cases, there are several solutions: either a personalized monitoring therapy or a prophylactic surgery" explains the geneticist.

 

Doctor Tibiletti does not take the merits for Angelina Jolie’s choice: not only American and Italian women are divided by deep cultural differences, but they also live in countries with different health care systems. In Italy, for example, it is more widespread and it is something that reassures oneself: "To live with the idea that one is predisposed to cancer is not something easy to accept. In Italy, however, the medical support can constitute a guarantee: in Varese, for example, the Breast Care Centre is multidisciplinary in which you can find different specialized and skilled staff, who work in team."

 

When does the genetic service come onstage?

"The gynaecologist is the first to be consulted. They are the one who have to carry out an evaluation on the medical history of the patient. There is a big difference between the medical history and the heredity and it is not always true that in the presence of the first, you will always have the second. That is the reason why you need to carry out an evaluation on the medical history. In a positive case, the patient is sent to our service in order to talk about her medical history and about the genealogical relationship of previous cancer cases. If we find a link to the medical history, we immediately carry out genetic testing. It is done by taking a blood sample, followed by a complex and costly analysis in the laboratory. In short, it takes six to seven months to get the outcome.” Each genetic test costs about 3,200 Euros, but they are fully taken in charge by the Italian Healthcare Service.

 

Therefore, if the two genes appear to have mutated, the patient is sent to the doctor: "Usually, breast specialists establish a personalized monitoring therapy whereas gynaecologists tent to prefer breast surgery due to the aggressiveness of the cancer. In general, in the case of women after the age of 40 and who don’t have the motherhood feeling anymore, oophorectomy is carried out without doubts."

 

Finding out to have a high predisposition to develop cancer is not something easy to handle: the good news is that the genetics team in Varese is well-advanced and it has a great teamwork in a very accurate centre.