What you should know about at-home genetic testing

At-home genetic testing, or direct-to-consumer (DTC) genetic testing, can appear to shed light on everything from ancestry and wellness to risk for serious health conditions like heart disease, genetic disorders and cancer. By submitting a simple saliva sample, you can have your DNA analyzed and get results sent directly to you.

However, it can be hard to interpret all of the data and understand what it means for your everyday life, particularly when the reliability and validity of the information may be unclear. Baylor College of Medicine genetic counselor Tanya Eble offers tips on what to consider before doing taking an at-home genetic test.

An illustration of a DNA double helix.
Assess your needs with your doctor

First, Eble recommends thinking about what you hope to learn from genetic testing. If you have an interest in your ancestry, at-home DNA tests may be a recreational way to learn more about your family tree.

But if you want to learn more about your risk for certain health conditions or you have concerns about a genetic disorder, Eble says you should speak to your healthcare provider before taking a test to determine what’s right for you. Depending on your concerns, you may be referred to a medical geneticist or a genetic counselor.

“Genetic testing is just one piece of your risk assessment,” said Eble, assistant professor of molecular and human genetics and manager of the adult genetics clinic at Baylor. “When a patient comes to our clinic for a genetic evaluation, we go through their medical history and a thorough family history. We take that information, assess the patient’s risk and determine which test might be the most appropriate for them, if any. You miss a lot of that risk assessment if all you get is the report from an at-home test.”

Consider the scope of the test

When taking an at-home genetic test, keep in mind that your results may not provide a full picture of your risk for certain health conditions. For example, many tests look for mutations on the BRCA1 and BRCA2 genes, which are linked to increased risk of breast and ovarian cancer.

But according to Eble, the DTC genetic test may only examine a small number of mutations, such as those more commonly found in Ashkenazi Jewish populations, and there are more than 1,000 known variants of BRCA genes associated with increased risk of cancer.

“If a person has a normal test result, they might be reassured,” she said. “But there are other genes linked to moderate to high risk for developing breast cancer and other cancers, and those genes may not be considered in the test. There’s no substitute for consulting with a healthcare provider when you’re trying to get medical advice.”

Risk for diseases like heart disease may be influenced by many different genes, lifestyle factors and the environment. Assessments focused on genomic variants will only provide one piece of your risk for disease, and Eble says it’s important to consult with your doctor about the impact of other risk factors.

In addition, DTC genetic tests may be more accurate for certain populations. The tests are largely skewed toward Caucasian populations because other populations are as not well represented in genomic databases.

Be aware of potential consequences

Before choosing to get any kind of DTC genetic testing, Eble advises that consumers learn about how the test results could be used.

“Find out if the company can sell your information to third parties,” she said. “Will it be used for research? Will it be used in criminal cases? Depending on the company’s policies and practices, information could also impact privacy in closed adoptions or cases of anonymous sperm and egg donors.”

The Genetic Information Nondiscrimination Act protects against discrimination due to genetic information in employment and health insurance, but it does not provide protection in other types of insurance, such as life insurance or disability insurance.

If you have taken genetic tests, you may be required to provide your results to an insurance company, which could impact coverage availability or pricing. Eble walks her patients through potential impacts of genetic testing as part of the consent process. She recommends that anyone interested in pursuing testing reach out to his or her healthcare provider for information and possibly a referral to a medical geneticist or genetic counselor.

Learn more about Baylor Medicine’s General Adult Genetics Clinic or call 713–798–7820.

-By Molly Chiu

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