When a person is believed to suffer any form of genetic disorders, a test is carried out to determine a change in genes, proteins or chromosomes in order to confirm or debunk the suspicion or determine the individual’s chances of developing or transferring a genetic disorder. This test is known as “Genetic Testing”.
It is a voluntary process because while it enjoys many benefits, it comes with some risks and limitations. The decision to or not to undergo one is complex, it is incumbent on the geneticist or genetic counselor to school the patient on the highs and lows of the process.
There are different ways through which genetic testing can be carried out, and every day, new procedures are discovered. The major ones are:
- Molecular Genetic Tests: These are for gene tests. It involves studying single genes or short DNA lengths to identify differences or mutations that cause genetic disorders.
- Chromosomal Genetic Tests: Here, the scientist analyzes chromosomes or long DNA lengths to identify large genetic changes like an extra copy of a chromosome that causes a genetic condition.
- Biochemical Genetic Tests: Here, the geneticist studies the activity level of proteins or the total amount of same. Any abnormality in any could be an indication of changes in the DNA leading to a genetic disorder.
These fall under different methods. While thousands exist, some of them are:
Forensic Testing: It uses DNA sequences to identify persons, usually for legal purposes. It is not for checking genetic disorders but for the purpose of identifying victims and perpetrators of crime.
Diagnostic Testing: To confirm or rule out a specific genetic or chromosomal condition, suspected from physical symptoms. It can be performed before or after birth, but only for specific conditions.
Newborn Screening: It is performed after birth to identify genetic disorders that are treatable early in life. Example, phenylketonuria, congenital hypothyroidism, etc.
Preimplantation Testing: It is also known as Preimplantation Genetic Diagnosis (PGD). It is used to detect any genetic changes in embryos that created through assisted reproductive techniques like in-vitro fertilization (IVF). This process (IVF) involves taking egg cells from a woman’s ovaries and fertilizing them outside her body. PGD involves testing some cells from the selected embryos and testing them for genetic changes so that only embryos that have not undergone this change are implanted.
Prenatal Testing: It is performed on the genes or chromosomes of a fetus where there is an increased risk of the baby suffering a genetic or chromosomal disorder.
Carrier Testing: It is used to identify persons that carry a copy of gene mutation, which causes a disorder if present in two copies. It is carried out on persons with a family or ethnic history of a genetic disorder.
Predictive and Presymptomatic Testing: They are used to detect gene mutations related to disorders that appear after but later in life. This is helpful to persons who have a family history of genetic disorders. It will determine if a person will develop a genetic disorder before the symptoms begin to manifest.
The importance of genetic testing for the overall health of individuals, especially persons with a risk of inheriting them cannot be overemphasized. At Progressive Womens Health, we provide genetic testing, diagnosis and treatment services, let us serve you.