Genetic testing can provide information about changes in chromosomes, genes, or proteins that might impact a person’s health, development, or ability to respond to certain medical treatments. Testing is available from pre-birth throughout the lifespan.
A genetic test can confirm or rule out a suspected genetic condition or determine whether someone might develop a medical condition or pass on a genetic disorder to a child. More than 1,000 genetic tests are currently in use, and more are being developed.
Testing is voluntary and personal. Families can discuss with providers whether information found through testing might help with choice-making or whether the testing might cause stress. A geneticist or genetic counselor can provide guidance about the pros and cons of the test and discuss the social and emotional aspects of testing.
Preimplantation testing is a when you screen a fertilized embryo before implantation. In-vitro fertilization is when a mother’s egg, and a father’s sperm are fertilized outside of the body, then implanted into the woman’s womb. When a mother chooses to go through in-vitro fertilization, the embryo gets tested for chromosomal or genetic disorders. Only the embryo without any genetic mutations or disorders gets implanted for pregnancy.
Prenatal testing is offered during pregnancy when there is an increased risk of the baby being born with a genetic disorder. Prenatal testing carries a small risk of losing the pregnancy through miscarriage due to the invasive nature of this test requiring amniotic fluid or tissue from the fetus area. Although prenatal testing won’t identify all possible genetic disorders, it can offer some answers and piece of mind.
The most common type of genetic testing is newborn screening. Typically, 1 to 2 days after a baby is born, a blood sample will be taken by pricking a baby’s heel, and be used to identify and genetic disorders that can be treated early in life. The parents only receive results if they are positive, followed by additional tests to detect any genetic disorders.
When a person is sent in to get diagnostic testing, there is usually a specific genetic condition.
If a patient is trying to find out what is making them ill, a medical provider may diagnose a specific condition, then have it confirmed with diagnostic testing.
Predictive and presymptomatic testing
Predictive and presymptomatic testing usually occurs when a family member may have been diagnosed with a genetic disorder. Predictive testing helps identify what mutations one may have that may increase their risk of developing specific disorders such as cancer, or heart disease. By finding a gene that increases someone’s chances of developing a disease, it can help patients make medical decisions about their health or lifestyle.
When people have a family history of genetic disorders or belong to an ethnic group that has an increased risk of a disorder, they may go through carrier testing. When two people carry a change in a gene they can pass it to their children. If both parents get tested, they can be informed about their risk of having children with that genetic condition.
Medical providers may sometimes have to prescribe pharmacogenomic testing to identify which medication is right for an individual.
Research genetic testing
Research genetic testing is done for research purposes. It helps researchers expand the knowledge of genetics and the human body.
How it works
Once a person comes to the decision with their medical provider, or genetic counselor that a specific genetic test is right for them, their medial provider will issue the test. A small blood sample, or other tissue such as the inside of your cheek with your DNA will be sent to a lab. The lab technicians will run the specific tests, then send the results to the patient’s doctor or genetic counselor. The medical provider will then interpret the results to the patient. If the patient requests, the lab results can be sent directly to them.
Challenges and Barriers
Aside from prenatal testing having small risks, there aren’t direct physical risks to getting genetic testing done. The drawbacks of genetic testing mainly consist of financial and emotional burdens.
Genetic testing can cost anywhere from $100 to $2,000 depending on the type of test. A more complex diagnoses will render more tests to be run, resulting in a higher bill. Getting results of the test may take from a few weeks to several months. Some test results may be available faster due to time sensitivity pertaining to that test, such as prenatal tests. Consulting with a genetic counselor or medical provider can give the individual information about turnaround time of a test.
When a genetic test is recommended by a medical provider, it may be covered by health insurance. Newborn screening can be fully or partially covered by many states as well. Coverage will depend on the type of test they are looking to get. Some people choose not to use their health insurance for genetic testing because the results can affect the person’s healthcare coverage. If you would like to know more about the Genetic Information Nondiscrimination Act (GINA) that protects individuals from genetic discrimination, visit; NHGRI
Emotional drawbacks of genetic testing can be as burdensome or more so than financial drawbacks. Finding out the results of the genetic tests, can cause anxiety, anger, guilt, or depression. One may hope for a positive outcome and end up with more information than they can handle. It is important to discuss the potential outcomes with your genetic counselor before going forward with the test.
Although there are limitations to genetic testing, getting a positive result doesn’t necessarily mean one will develop a disease. The Benefits of genetic testing is that it can help eliminate uncertainty and give you answers.
There are limitations to the treatment options for specific diagnosis and weighing the risks and benefits is important before making a decision to go through with genetic testing. After carefully discussing the risks and benefits of genetic testing, and choosing to go through with it, some people can find it helpful to have answers and the possibility for recommendations for treatments, and changes to lifestyle and habits. The opportunity to prepare for something gives some people peace of mind.