Lately genetic testing has changed the face of medicine and modified clinical practice. Thanks to spectacular advances in biotechnology, we have more knowledge on how the human body works than we ever had before. Human genome mapping created new opportunities for genetic tests to predict diseases, in order to prevent and treat them more efficiently.
But what is genetic testing?
A genetic test analyses the DNA of a person, which contains the genetic information that make a that person unique: from eyes and hair colour to the predisposition to develop a disease or pass it to the offspring. DNA is contained in the nucleus of our cells and can be extracted from any human tissue: blood, saliva, skin, hair, and so on.
A fragment of DNA defines a gene. Each gene has a specific role and sometimes abnormalities or damages in genes prevent it to function properly, which may lead to disorders. Some gene mutations may run in families; some just happen unexpectedly. Most diseases are caused by a combination of genetic and environmental factors.
Furthermore, genes provide information that can help us to make decisions with greater awareness about our health, with unprecedented positive impact on our life.
Whereas, predictive testing is used to search for genetic mutations linked with a condition before you show any signs of a disease. It can give information about whether or not a person will develop or is likely to develop a specific condition, usually at a later stage in his or her life.
One of the most noticeable changes introduced by genetic testing is the risk assessment of developing ovarian and breast cancer, the first between lethal malignancies in women across the world. The detections of significant mutations in the genes called BRCA1 and BRCA2 (Breast cancer 1 and 2) reveals an increased risk of developing ovarian or breast cancer (up to 80%) and guide screening and preventive measures.
Genoma has developed Serenity, an advanced screening test to detect inherited mutations in BRCA1 and 2 entire genes which may lead to an increased risk of developing ovarian and breast cancer, in women any age.
Today, the leading scientists advocate for BRCA1 and BRCA2 genetic screening for every woman at about age 30 as a part of routine medical care. Early detection of BRCA mutations is vital for cancer prevention and saves lives.