The genetic test is “the analysis of DNA, chromosomes, proteins, and metabolic processes to detect hereditary diseases, being related to the genotype, mutations, the phenotype or karyotype, with clinical purposes.”(Holtzman & Watson 1997). It is a complex test performed in a specialized laboratory for DNA analysis and it serves to identify the genetic cause (mutation) of a particular disease in a patient. When alterations in the genome are so great that can be detected by observing the chromosomes under a microscope, it is called karyotype or cytogenetic study and when changes in the genome are so small that affect a single chemical base of DNA, they are called molecular studies and it is necessary to sequence a small portion of the genome of the patient, which need sophisticated DNA analysis techniques. These molecular studies can diagnose inherited diseases based on genetics, they are used to calculate risk for certain diseases where genes play an important role, and also play an important role in the metabolism of different drugs. Additionally, it is also possible to know the ancestry of a person. To perform a genetic analysis it is necessary to study the genetic material found in our cells. It is typically done from a blood sample, but it can also be realized from cells that we can find for example in our saliva. DNA is extracted from the sample and the reading from this portion of the genome is performed. Every human has two copies of each gene, one inherited from their father and one from their mother. It is thought that more than 25,000 genes exist. Since genetic testing may cause ethical and psychological problems they must be accompanied by genetic counseling.
There are different types of analysis and genetic tests (prenatal testing, genetic fingerprint, etc ..) but tellmeGen offers the following, all included in one complete test:
- Predictive Test: These tests are used to detect mutations that are associated with diseases that may appear throughout life. These tests can help people who have a family member suffering a genetic disease but they are not suffering it when the test is performed to predict if they will suffer the disease in the future, to know their genetic susceptibility to suffer it. These predictive tests identify mutations that increase or decrease the chances of developing a disease. Genetics will play a role in different degrees but knowing these results will help make important decisions about health care to mitigate the risks of developing a disease.
- Carrier Test: The carrier genetic test is used to screen people who own one copy of a genetic mutation. When that mutation is present in two copies, it causes a genetic disease. This kind of test is offered to people who have a family history of genetic disorders and people of ethnic risk groups who have specific genetic diseases. If both parents are tested, the test can provide information about the risk of having a child with genetic problems.
- Pharmacogenetic Test: The goal of pharmacogenomics is to create drugs and prescriptions tailored to each patient and tailored to their genomic conditions. It helps to determine which drug will be most effective and powerful, determine which drug will be the safest (limiting side effects) and determine the proper dose of a given drug. This test is of immediate application. It is important to be aware that in addition to genetic factors, environment, diet, lifestyle and health status may influence in the response to a drug.
- Traits: Different phenotypic characteristics which are determined by genetics in a greater or lower measure. They can also help to reach a broader knowledge about oneself: from nutrigenomics to eye color, baldness, obesity, metabolic values, etc.
- Ancestry: The genetic ancestry tests allow those persons interested in their family history to obtain complementary information to that they could find through their relatives or in the historical records. Examining DNA variations can give us clues about the origins of a person’s ancestors. Certain patterns of genetic variation are often shared among people with a particular background.