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What Is Genetic Testing?
A genetic test can divulge mutations in the chromosomes, proteins, or genes that make up DNA, which indicates a predisposition to a particular disease or a genetic disorder. Unlike DNA testing to determine ancestry, Genetic tests deal with health issues.
Genetic testing can confirm or eliminate pertinent information to help diagnose possible genetic conditions. It can also help predict the odds of developing the disorder or passing it on to children. Testing positive doesn’t mean you will contract or pass on the disease or condition.1
Types of Genetic Tests
- Newborn Screening– Testing for early detection and treatment of genetic disorders
- Diagnostic Testing– Used in the identification or ruling out of definitive genetic or chromosome disorders
- Carrier Testing– For people with a proclivity in their family or ethnic background of a higher risk for particular genetic conditions, disorders, and diseases
- Prenatal Testing– Performed on a fetus to reveal changes in chromosomes or genes
- Preimplantation Testing– This test is done on embryos created using assisted reproductive techniques (such as in-vitro fertilization) to test for genetic changes before being implanted.2
- Predictive and Presymptomatic Testing– Use this test to ascertain the risk of specific diseases or disorders.
- Forensic Testing– This test is used to identify people for legal reasons.
- Pharmacogenetics– Genetic testing that may be beneficial in choosing the proper medication and dosage for certain diseases.
How Is a Genetic Test Performed?
Depending on which type of genetic testing you are having, either a sample of blood, skin, saliva, amniotic fluid or tissue is obtained and taken to the lab for analysis.
Is Genetic Testing Covered by Insurance?
If a person’s doctor recommends genetic testing, insurance may cover the cost; however, it’s a good idea to call your insurance representative to check your policy and the types of tests covered before taking a genetic test. Also, review your state’s privacy policies.
The Benefits of Genetic Testing if the Results Are Positive
- Alleviates uncertainty
- Can help to diagnose and dictate the next steps in treatment
- Indicate possible lifestyle changes that are needed
- Knowledge of risks when planning pregnancies
The Benefits of Genetic Testing if the Results Are Negative
- It can relieve concerns, even though it is not 100% conclusive.
- Avoid unnecessary testing
The Risks and Limitations
Most of the genetic testing consists of blood samples or taking a few cells from the cheek; therefore, there is minimal physical risk in taking a genetic test; however, a prenatal test has a small risk of a miscarriage.2
Don’t underestimate the emotional, social, or monetary costs. That’s why it is recommended that a person speaks with a professional before taking part in testing and making sure you understand all the outcomes. This is called informed consent.
The decision to participate in genetic testing is personal and complicated. It is voluntary, and may help in treating or in taking preventative measures; however, due to the limitations and emotional aspects, it is recommended that you consult with a doctor or a medical geneticist.