Genetic testing is a medical test highlighting the changes in the chromosomes, genes, or proteins that might lead to disease or illness. It includes the testing of the individual’s DNA.
Although It can show vital information regarding treating, diagnosing, and preventing infection, there are also some drawbacks.
For instance, if an individual is healthy, a positive figure from genetic results may not always indicate the signal of disease development. Likewise, a negative figure would not assure that the individual won’t have a particular illness.
Therefore, you must consult the healthcare provider, preferably a genetic or geneticist counselor, to discuss the result of the genetic examination.
Types of Genetic Testing
There are different kinds of It; some of which are listed below;
1. Diagnostic Genetic Testing :
- If an individual experiences any signs of illness caused by changes in the genes, sometimes referred to as the mutated genes, It will aid in revealing the suspected illness.
2. Predictive and Presymptomatic Genetic Testing:
- If an individual has a family history of a genetic condition, it is vital to have it before the signs of a congenital disease appear. This kind of gene testing can aid in identifying the individual’s risk of colorectal cancer.
3. Carrier Genetic Testing :
- This test is vital to be conducted before planning children in the following cases;
- If an individual has a family history of a genetic disorder, such as cystic fibrosis or sickle cell anemia.
- If an individual is in an ethnic group with a high risk of a specific genetic disorder.
4. Pharmacogenetics Genetic Testing:
If an individual has a specific disease or health condition, this kind of it will aid in determining what dosage and medication will be most beneficial and effective for an individual.
5. Prenatal Testing:
- This test is explicitly conducted on pregnant females that help detect specific abnormalities in the fetus’s genes.
6. Newborn Screening:
- This type of it is vital if the test outcome indicates any illness like congenital hypothyroidism, (PKU) phenylketonuria, or sickle cell disorder so that the treatment and care can be started right away.
7. Preimplantation Testing:
- This test is called the preimplantation genetic diagnosis. It is mainly conducted when the individual plans to conceive a child through in vitro fertilization to identify any congenital abnormalities in the embryo. An embryo, without exceptions, is placed in the uterus in hopes of achieving pregnancy.
Risks of conducting Genetic Testing
Every medical procedure comes with some risk factors. They mainly depend upon the patient’s medical condition. It mostly does not come with physical testing. However, some types of It, like chronic villus sampling or amniocentesis, may have some chance of miscarriage or pregnancy loss.
Furthermore, there is a possibility that genetic testing can have social, emotional, and financial risks as well. Therefore, you must discuss all the possibilities of genetic testing with the healthcare provider before conducting a genetic examination.
Preparation for Genetic Testing
- Before opting for it, collect detailed information about the family’s medical background.
- Before the examination, discuss the patient’s personal and family medical history with the health care advisor to avoid potential risks and better understand the patient’s condition.
- After discussing all the possibilities regarding the test, the genetic counselor will decide whether to conduct it.
Expectations from Genetic Testing
According to the type of it, the healthcare provider will take the following samples of the patient’s blood, amniotic fluid, skin, or other tissues and send them to a lab for analysis;
1. Cheek swab:
- A swab sample inside the individual’s cheek is collected for genetic testing.
2. Blood sample:
- In this process, the sample is taken by injecting a needle into a vein of the individual’s arm. While for newborn screening tests, a blood sample is taken by pricking the infant’s heel.
3. Chronic villus sampling:
- The consultant will take a tissue sample from the patient’s placenta. According to the patient’s medical condition, the sample may be taken with a catheter through the individual’s abdominal wall or cervix and uterus with the help of a needle.
- This kind of It comes under prenatal genetic testing. Here the consultant injects a hollow needle by the individual’s abdominal wall into the uterus to gather tiny amounts of amniotic liquid for testing.