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Genetic Testing | What Do I Need to Know?

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What should I know about genetic testing?


Genetic testing is a means of determining if you have a genetic predisposition for certain medical conditions by examining your DNA. The results of such a test allow you to take steps to minimize the probability and/or impact of the condition actually occurring.

While genetic testing can be a helpful indicator, it is not meant to be a fortune teller. In other words, a positive result does not guarantee you will have a particular illness or disease. Likewise, a negative result does not mean you will never have a specific disorder. It is just a way to better assess your risk so that you can take preventative measures.

Either way, genetic testing is a very serious and personal decision with many factors to consider. The Mayo Clinic and the National Institute of Health list the following as reasons you may want to be tested:

• Diagnostic testing: If you have symptoms which could be related to a genetic condition, this type of testing can determine if you have that condition.
• Presymptomatic and predictive testing: Even without symptoms, if you have a family history of a genetic condition, testing could indicate your risk of developing that condition.
• Carrier testing: This test can indicate if you carry a gene for a specific condition, and this test often is done as part of family planning when there is a family history of certain conditions.
• Pharmacogenetics: This test can help determine which pharmaceutical products may be right for you if you have a specific health condition or disease.
• Prenatal testing: Babies can be tested in the womb for certain genetic disorders.
• Newborn screening: Babies are tested for certain genetic disorders soon after birth.
• Preimplantation testing: This testing is done as part of in vitro fertilization to determine if embryos have genetic abnormalities.

According to the National Library of Medicine, there are over a thousand genetic tests in use today that use several different methods to achieve results.

• Molecular genetic tests: These tests study a single gene or short length of DNA to look for a variation or mutation that could indicate a genetic disorder.
• Chromosomal genetic tests: These tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes that could indicate a genetic condition.
• Biochemical genetic tests: These tests study the proteins or enzymes, looking for changes that may indicate a change in DNA which could then result in a genetic disorder.

If you choose to seek genetic testing, your doctor and counselor may recommend a specific test that is best for you and your circumstances. You may need to undergo more than one test or give more than one type of tissue sample if there are multiple diseases for which you may be at risk. Regardless of the test type, a sample of tissue will be needed so it can be evaluated in a lab. Testing can be performed on just about any cell or tissue from the body but the following are the most common:

• Blood
• Saliva
• Hair
• Cheek swab
• Urine
• Stool
• Bone
• Amniotic fluid
• Chorionic villus sampling (tissue sample of the placenta)

Whether or not you choose genetic testing is a very personal decision. If you have a family history of conditions for which genetic testing is available, talk to your doctor about a referral to a genetic counselor. Working with the counselor can help you decide if and which genetic testing is right for you. Remember: your test results, positive or negative, could have an impact on your emotional, mental, and physical health. Additionally, your results could impact other members of your immediate and extended family. This is not a decision to be taken lightly. Seek out proper, professional guidance before making a decision.


This content was written by staff of HysterSisters.com by non-medical professionals based on discussions, resources and input from other patients for the purpose of patient-to-patient support.



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