5 things to know about direct-to-consumer genetic testing

Labs that process direct-to-consumer genetic tests are not required to be approved by the Food and Drug Administration (FDA). This is in contrast to labs that process clinical genetic tests, which do have FDA approval in the U.S.

While no test is perfect, labs that have FDA approval are required to follow stringent regulations to ensure accurate results. Labs that process DTC genetic tests may or may not follow the same strict protocols. Studies have shown that in some cases, test results from at-home genetic testing may be misinterpreted or are inaccurate.

Recommendation: Read the fine print before ordering a DTC genetic test kit to see whether the company uses an FDA-approved lab or a lab that has certifications for conducting genetic testing. When you get your test results, you may see a disclaimer at the bottom of the report indicating that the testing “is not for clinical diagnosis,” which may also indicate that the lab conducting the genetic testing is not certified for clinical genetic testing or FDA approved.

Direct-to-consumer genetic tests typically look for specific variants in your DNA but don't always sequence whole genes, which can provide more detailed information. If a direct-to-consumer genetic test suggests that you have or are at increased risk for a certain genetic condition, you’ll likely need to have it confirmed by a clinical genetic test administered by a health care professional.

Recommendation: If you are concerned about your risk for a specific health condition, meeting with a genetic counselor can help make sure you get the right test to give you the answers you’re seeking. At UT Southwestern, our certified genetic counselors are trained to work with high-risk families and help them understand options for prevention, early detection, and treatment.

Related reading: 5 myths about pregnancy-related genetic testing and counseling

When you get your results from a direct-to-consumer genetic test, it might contain one page or dozens of pages describing what your test was looking for and the results. Genetic testing results can be confusing and can lead patients to make important health decisions based on information they don’t fully understand.

For example, let’s say you get a negative result for a certain cancer-related gene with an at-home test. You may feel reassured. But if you have a personal or family history for cancer, it is important to speak with a genetic counselor who can go through your personal and family history in detail, help you select a test with the appropriate genes or variants and testing methodology based on your situation, and go over the results with you.

Recommendation: Some DTC genetic testing companies employ genetic counselors who can explain what the results may mean for your health, but not all of them do. Your genes are unique, and your genetic testing should be, too. Make sure you have access to a genetic counselor who can address your concerns and interpret the results of your test for the best and most useful results.

Related reading:

What genetic testing can reveal about your Alzheimer's disease risk

Can genetic testing explain the cause of recurrent miscarriages?

We all have differences in our DNA. But not every difference is significant or will cause disease. DTC genetic tests may not provide you with the context or information you need to know whether a result is concerning – not every variation negatively affects the gene or its function.

Certain gene variants are common in the general population. Just because you have one doesn’t mean you will have health problems. For example, your DTC genetic testing results may show a MTHFR (methylenetetrahydrofolate reductase) gene variant. These variants have been falsely linked to miscarriage. But MTHFR variants are very common, and no peer-reviewed, validated research has associated them with pregnancy loss. A genetic counselor can explain what a positive finding means and put it in context based on all the other results and information gathered about your overall health.

Recommendation: DTC genetic testing may look only at certain subsets of variants within genes. Many things it tests for are common in the general population, and some disease-causing variants may not be tested for at all. If you have a specific concern, clinical genetic testing is more equipped to look for uncommon genetic variations that cause rare genetic diseases.

In the scope of medical history, genetic testing is still in its infancy. We’re learning new things every day, particularly about genetic variations in certain ancestries. Most genetic research has been done in people of European descent, so we know more about which genetic variations are common in that population and whether those are significant or benign. The field of genetic testing is working to grow data and knowledge for more populations with diverse ancestries.

It's also important to remember that the presence of a genetic variant does not always determine whether someone will get a certain disease. For example, some DTC testing companies will check for gene APOE4, which has been found to slightly increase a person’s lifetime risk of developing Alzheimer's disease. But most people who have variants of APOE4, otherwise known as the apolipoprotein E gene allele 4, will never develop the disease.

So while genetic testing can provide some insights, it can’t tell the whole story of a person’s health. Your living environment, diet and exercise habits, substance use, occupation, and hobbies all factor into your overall health and potential risk for specific health conditions.

So, the results you get from DTC or clinical genetic testing are not the end-all, be-all of most health-related questions. There are almost certainly other factors to consider to get the most thorough answers.

Recommendation: Consider your lifestyle factors and genetic testing results as a whole, not in silos. A clinical genetic counselor can help you gain a fuller picture of your overall health.

Before you buy and take a DTC genetic test, ask yourself why you’re taking it:

• Do you want to learn more about your ancestry?
• Do you want to gain insight into personal traits, such as how your body converts food into energy, your circadian rhythms for sleep, or your taste preferences?
• Do you want to know whether you have or are at risk of a specific health condition?

If your goal is related to one of those first two questions, a DTC genetic test may give you the answers you’re looking for. If you seek answers to the third question, speak with a genetic counselor or health care professional before you go down the road of self-testing. We can order a personalized genetic test based on your unique history and help you interpret what the results may mean for your future.