Genetic Testing: An Overview of Benefits, Limitations, and Risks
Genetic Testing: An Overview of Benefits, Limitations, and Risks

Genetic Testing: An Overview of Benefits, Limitations, and Risks

Use a magnifying glass to look at colored DNA structures

What is Genetic Testing and Why is it Done?

Genetic testing analyzes a person's DNA, RNA, chromosomes, or proteins to provide information about their genetic makeup and risk for certain diseases. With over 77,000 genetic tests currently available, this testing is done for several key reasons. These include diagnosing a genetic disease in someone already experiencing symptoms, determining if a healthy person is a carrier who could pass on a genetic mutation, assessing an individual's risk of developing a disease later in life, guiding treatment choices for diagnosed conditions, and informing family planning decisions about having children.

Who Should Seek Genetic Counseling and Testing?

Since genetic testing can have major health and emotional implications, professional genetic counseling is highly recommended before and after undertaking testing. Such counseling helps ensure people fully understand their motivations for testing, the specifics of the test, and the potential ramifications of the results. Genetic counseling may be advisable for individuals with a family history of a genetic disorder, early onset of disease in multiple family members, increased risk due to ethnic factors, or a history of multiple pregnancy losses. Counseling can provide guidance on whether testing is recommended and which type may be most appropriate.

What Kinds of Information Do Genetic Tests Provide?

There are several main types of genetic tests. Diagnostic testing confirms or rules out a specific genetic disorder in someone exhibiting symptoms. Predictive testing assesses the future risk of developing a disease, such as certain cancers, in currently healthy individuals. Carrier testing determines if a person carries genetic mutations that could be passed on to their children, potentially causing disease. Prenatal testing diagnoses fetal abnormalities from a sample taken during pregnancy. Each test type provides insights that can inform major medical decisions related to treatment, family planning, and prevention.

What Are the Potential Benefits of Genetic Testing?

Genetic testing offers several potential benefits. Diagnostic testing can end a lengthy search for the cause of symptoms, enabling earlier and more targeted treatment in some cases. Testing healthy individuals can alert them to higher genetic risks for preventable or manageable diseases. In turn, this allows for recommended lifestyle changes or increased screening to detect disease sooner. For couples planning children, carrier testing determines risks of passing on genetic mutations, while prenatal testing detects fetal abnormalities early in pregnancy. For those considering direct-to-consumer genetic testing, professional genetic counseling is recommended to understand the implications of results from unregulated tests of uncertain validity.

What Are the Risks and Limitations That Should Be Considered?

Despite the benefits, there are also important risks and limitations to consider regarding genetic testing. The testing process can cause significant emotional distress, anxiety, depression, or guilt. Diagnosis of a genetic disorder does not always lead to treatment, since interventions are not available for all conditions. Testing of healthy individuals cannot always predict if, when, or how severely a disease will develop in the future. The socially and ethically complex results may also impact family dynamics. Results revealing increased genetic risk for disease may lead to added health expenses for follow-up testing and screening. There are also concerns about potential genetic discrimination, despite protections through legislation like GINA. Weighing these factors underscores the value of genetic counseling to make informed decisions about pursuing testing.

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