Genetic testing is a medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can give you information about your chances of developing certain illnesses or diseases.
Genetic tests can determine if you carry genes that may cause illness or disease in your children. Genetic tests are also for individuals who have a family history of a certain condition, and families can decide to take these tests to understand their chances of developing it.
Genetic tests can also confirm or rule out a diagnosis. They can help determine the best treatment plan or detect gene-related risks of diseases in a family.
In some cases, genetic testing can predict how well someone would respond to certain medications.
Genetic testing can be used for the following reasons:
Doctors use several types of genetic tests to diagnose, manage, and treat a variety of medical conditions.
The most common types of genetic tests are:
Your doctor can help you decide if a genetic test is right for you based on the following:
You can take a test if you are considering having children in the future. This helps to know if there are changes in certain genes that could cause a disease and be passed to future generations.
Genetic testing can be beneficial for a variety of people.
Genetic testing is available through many healthcare facilities including primary care doctors, medical centers, and specialty clinics.
Many states offer public health services that provide genetic testing for qualifying individuals, such as those with certain inherited conditions.
Positive result: The test confirms the patient does have a genetic change that can cause a disease.
Negative result: A negative genetic test result means that the patient does not have a change in the gene or genes that were tested. This doesn’t necessarily mean the patient is completely free of the risk of developing an inherited disorder in the future.
Uncertain result: A uncertain test result means there is not enough evidence of whether a change in a gene could possibly cause a disease.
If possible, you should collect detailed family members' medical history. Provide information about the medical conditions in the family to your health care team so they can determine which tests are best suited for you.
A physician may then recommend a blood test or imaging studies to help rule out certain conditions before undergoing a genetic test.
Genetic testing involves a DNA sample of cells from your body. Physicians send the sample to a laboratory for analysis.
Common samples are taken from a blood sample, saliva sample, or cheek swab.
The laboratory will then extract the DNA from the sample and analyze it for gene variants associated with certain conditions.
Genetic counseling is useful if you are at a higher risk of carrying a genetic condition. Genetic counselors are specially trained healthcare professionals who can help you understand your risk factors and options for testing and treatment.
They can also provide support and guidance in making decisions about how to manage any potential high risks. They will spend time with you to discuss your personal and family history, understand your concerns, and provide education about genetic conditions.
