There is an enormous variety of genetic tests available in the market today. These include:
- Diagnostic tests
Diagnostic testing is used to identify (or rule out) a specific genetic alteration that is suspected to cause a certain disease. This type of tests is not available for all known genetic disorders, but for those available, it will help you choose the best course of treatment and management for your patient, providing a much more informed and personalised healthcare.
- Carrier tests
Carrier testing is used to find people who “carry” one copy of a DNA alteration that is associated with a disorder. Carriers may show no signs of the disorder, but when in presence of two of these copies, it may cause the genetic disorder to precipitate. Thus, it is very important to know beforehand if they may pass these copies on to their offspring. Having both parents tested, will provide information on the probability of having a child with this disorder. Usually, this type of testing is carried out in individuals who already present a family history of a genetic disorder or who belong to specific ethnic groups that have increased risks of particular disorders.
- Predictive and pre-symptomatic tests
Predictive and pre-symptomatic types of testing are used to detect DNA alterations associated with disorders, that increase a person's chance of developing these disorders in the future. In pre-symptomatic genetic testing, a healthy person is tested for a condition with delayed onset before any symptoms even appear. A positive result indicates that the patient will develop the condition but does not indicate when this will occur. Predictive genetic testing differs from pre-symptomatic testing in that it informs individuals of an increased (or decreased) risk of developing the disorder in question. However, it is important to note that predictive test results will only reflect a likelihood for developing (or not) the disorder under study. The results of these tests can help a patient making decisions about prevention (lifestyle changes and monitoring for instance) or make more informed healthcare decisions.
- Pharmacogenomics tests
Pharmacogenomics testing provides knowledge about how certain drugs will be processed by the patient´s metabolism. This type of test can help choose a more personalised treatment or dosage of a certain drug, according to the patient’s genetic profile.
- Newborn tests
Newborn screening is used to test babies just after birth to determine genetic alterations known to cause diseases and development problems. Some of the latter can be treated early in life, and some are currently tested in most developed countries (such as phenylketonuria, congenital hypothyroidism, amongst many others).
- Prenatal tests
Prenatal testing is used during pregnancy to determine genetic alterations in a fetus's DNA that will lead to specific disorders. These tests usually look for an increased risk for having common chromosomal disorders, but it is important to note that they will not determine all conceivable inherited disorders and birth defects.
- Research genetic tests
Research genetic testing is used to understand how specific DNA alterations cause diseases and learn their individual contribution. This type of testing has academic purposes and do not benefit patients in the short term. Nevertheless, they can help investigators understand the basis of certain disorders and help other patients in the future.
- Forensic tests
Forensic testing uses DNA patterns to study a specific individual for legal purposes. This type of testing may establish paternity for instance (or other relationship between people under study), identify (or rule out) crime suspects or identify catastrophe fatalities, amongst others.