CPOE.org Gene Testing
Gene testing is a clinical process that looks for genetic variations from the norm in the DNA of the tested individual. The test will be conducted by a clinician on a sample of blood, tissue or other bodily fluids taken from the individual. Gene testing looks for a variety of genetic anomalies including incomplete genes, lost genes, dynamic genes and more.
Different Types of Gene Testing
Genetic testing takes several different forms including:
Diagnostic testing: Diagnostic testing looks for genetic disorders including Down Syndrome, Cystic Fibrosis, Sickle Cell Anemia and Huntington’s Disease. If a person suspects they may have a genetic disorder gene testing can be used to confirm or debunk the notion.
Preimplantation testing: This type of genetic testing is commonly done at the behest of couples hoping to conceive through in-vitro fertilization. During the test the technicians look for chromosomal abnormalities in the embryo before it is implanted into the uterus. This helps ensure a healthy child at birth.
Predictive testing: This type of test is conducted on individuals who have reason to believe they may have a hereditary issue lurking in their genes that may raise its head later in life. These tests are sometimes recommended when a relative has a hereditary condition, even if the tested individual is showing no signs of illness.
Prenatal testing: Prenatal gene testing can potentially reveal if a baby will suffer from various birth defects. Prenatal testing is typically multifaceted with gene testing being only 1 aspect of the overall testing regimen.
Pharmacogenetics: Pharmacogenetics is loosely defined as the study of how a person is likely to respond to various medications based on their genetic makeup. Pharmacogenetics is still in its relative infancy, however, and as such is only one of several indicators a doctor may weigh when determining an appropriate treatment.
Carrier testing: This type of gene testing is designed to inform the tested individual whether they are carrying a genetic mutation that may negatively affect any potential offspring. People often undergo carrier testing prior to marriage.
Newborn gene testing: This is one of the most popular types of gene testing and is done on newborns so that their parents know whether or not their child is likely to have serious health issues later in life. Early detection can go a long way toward reducing the severity of genetic maladies.
How it’s Done
If an individual wishes to undergo Carrier Testing, Predictive Testing or Diagnostic Testing they can expect the process to unfold in the following manner:
- Upon arriving at the clinic the gene counselor will discuss the test and its implications.
- You will likely have to sign a consent form agreeing to have your DNA examined.
- The clinician will take a sample from you. Most likely blood, but possibly saliva, skin or another bodily fluid.
- The sample will then be sent to the lab for analysis.
The lab will prepare and sequence your DNA, analyze it, interpret the results and return the results to the clinic. The clinic will then contact you to come in and discuss the results.