New genetic technologies hold great promise in their potential to treat patients based on their individual genetic information. Advances in mapping the human genome has created different opportunities for genetic tests to predict diseases, in order to prevent and treat them more efficiently.
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 and Precision medicine is allowing us to analyze a person’s genetic makeup and target treatments based on their specific need.
As a matter of fact, Science and medicine are bringing about innovations shifting the paradigm of current clinical approaches.
So, what is precisely genetic testing?
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed.
Several methods can be used for genetic testing: (Ref: Genetics Home Reference-US National Library of Medicine)
- Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder.
- Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.
- Biochemical genetic tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.
Advanced genetic technologies have facilitated non-invasive prenatal testing (NIPT) through the analysis of cell-free fetal DNA (cffDNA) in maternal plasma.
This is a profound development in prenatal care that represents a substantial improvement over traditional multiple marker screening.
Cell-free fetal DNA screening has been introduced in 2011 in several countries and requires a simple blood draw from an expectant mother to analyze fragments of fetal DNA that have been released into her bloodstream and detect genetic abnormalities such as Down syndrome.
Tranquility is our risk free prenatal test based on DNA for the early detection of the most common trisomies including Down Syndrome.
Many human diseases have a genetic component. Genetic conditions can be caused by a mutation in one or multiple genes, by a combination of gene mutations and environmental factors, by damage to chromosomes or by unexpected copies of chromosomes. Some genetic conditions are inherited, while others occur spontaneously.
The detection 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.
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.
Genoma Swiss Biotechnology 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.
To sum up, what can I learn from genetic testing?
The results of genetic testing may help to:
- Diagnose a disease.
- Find genetic differences that have caused your already diagnosed disease.
- Find genetic differences that may increase your risk for getting a disease.
- Find genetic differences that you could pass on to your children.
- Guide your health care provider to choose the best treatments for your disease.