Genetic counseling: what is it for??

In the oncological sector, prevention, research and early diagnosis are becoming increasingly important. The activities and events aimed at informing and sensitizing the population about the prevention of various types of cancer (breast, pancreas, stomach, ovary) increases. There are numerous screening tests through which it is possible to have an early diagnosis on your conditions, such as the BRCA TEST.

As declared by the World Health Organization (WHO), to minimize the development of cancer it is necessary to counter i risk factors connected such as: an unbalanced and not very varied diet, an unregulated lifestyle, the environment in which you live 1 . Inquiring well and recognizing the risk factors is the starting point of the primary prevention.

There secondary prevention provides for early diagnosis of neoplasm, and it is here that genetic advice plays a decisive role. If a tumor is diagnosed with an initial stage, the specialist doctor can intervene immediately with effective therapies and there is a high percentage of healing 2 . Discovering a breast tumor at the Zero stadium allows for example to women treated to have 98% of survival possibilities 2 .

The mutations to the BRCA1 and BRCA2 genes are related to the development of breast and ovarian cancer. Knowing which genes are at the basis of a genetic pathology allows both to know it better and to have more information on the therapy to be adopted 3 . Undergoing a genetic test can be instrumental in finding out if you have genetic mutations and in monitoring the development of cancer. Approximately one person in 400/800 is found to be a carrier of alterations to the BRCA1 and BRCA2 genes 4 .

Furthermore, it is estimated that the risk of getting breast cancer is 87% and ovarian cancer 40% for those women who have an alteration to the BRCA1 gene 5,6 .

Investigating one’s familiarity with neoplasms is therefore very important.