December 27, 2019

Genetic Testing: What You Should Know before Ordering Your Test

DNA By Chad Haldeman-Englert, MD, FACMG

Direct-to-consumer (DTC) genetic testing has become extremely popular over the last few years and is often performed to learn more about ancestry and health information. But digesting your own genetic information can be complicated and even misleading. After all, not all genetic tests are created equal.

While DTC testing can be exciting, it’s also delicate.

In order for you to get the most out of your results, you should approach this testing with consideration and preparation. Here are some important things to know and consider if you are planning on doing DTC genetic testing.

What Is Direct-to-consumer Genetic Testing?

This type of genetic testing is different than traditional genetic testing that is performed by a healthcare provider, as it is marketed directly to customers through various media outlets and can be bought online or in stores.

Why Would Someone Do DTC Genetic Testing?

The most common reason for doing this type of genetic testing is to learn about one’s ancestry. Results can often be used to make predictions about health, provide information about common traits, identify if you are a carrier for particular conditions and determine if individuals may be related to one another.

What Should You Ask Prior to Doing DTC Genetic Testing?

Having access to this sophisticated information is empowering, but it can also be complicated – and sometimes, even emotional. Before choosing a DTC genetic test, find out what kinds of health, ancestry or other information will be reported to you – think about whether there is any information you would rather not know. In some cases, you can decline to find out specific information if you tell the company before it delivers your results.

Because there is currently little regulation of DTC genetic testing services, it is important to assess the quality of any services before pursuing any testing. Here are some questions that the Genetic Home Reference recommends asking when choosing a DTC testing company:

  • Does the company provide adequate information about the services it offers, including sample reports, pricing and methodology?
  • Does the company have experienced genetics professionals, such as medical geneticists and genetic counselors, on its staff, and do they offer consultation about test results?
  • Does the company explain which genetic variations it is testing for, including scientific evidence linking those variations with a particular disease or trait? Are the limitations of the test and interpretation of results made clear?
  • What kind of laboratory does the genetic testing? Is the laboratory inside or outside the US? Does the laboratory meet US federal regulatory standards called the Clinical Laboratory Improvement Amendments (CLIA) or is it approved by the US Food and Drug Administration (FDA)?
  • Does the company indicate how it will protect your privacy and keep your genetic data safe now and in the future?
  • Does the company indicate who will have access to your data and how it may be shared? Does it share or sell their customers’ genetic data for research or other purposes?

What Companies Offer This Testing?

There are many companies that offer DTC genetic tests for a variety of purposes. All genetic tests have their own limitations, and it can be challenging to determine which ones will be most informative and helpful to you. Consider what you are most interested in learning about with the testing, and choose a lab that is reputable and provides the information you are seeking. You can also contact the company ahead of time with any questions or concerns.

You’ve Purchased Your Genetic Testing Kit. What Now?

The customer will usually send a saliva sample to the company. You’ll receive your results typically within 2-4 weeks directly from a secure website or in a written report.

Understanding Your Results

Digesting your own genetic information or results can be complicated and even misleading. It is important to know that DTC testing should not replace a genetic test that is performed by a clinician. It is generally not as complete – for example, one DTC testing company tests for three specific genetic changes to the BRCA1 and BRCA2 genes; however, there may be hundreds of possible mutations to these genes. That means that negative testing by a DTC company could still mean that you have a change to this gene. If you are concerned about your chances of having an inherited change (or mutation) that could increase your risk for developing cancer, it’s important to seek additional genetic testing through a qualified provider.

The FDA recommends not changing or stopping any medicine based on a report from a DTC genetic test. Discuss the results of the genetic test with your healthcare provider, including whether the medication label includes information on how to use genetic information to determine dosage, and whether your healthcare provider recommends changes to your treatment. Medicine (prescription and over the counter) should always be taken as directed by a healthcare provider.

If a concerning genetic change is identified on DTC testing, it should be confirmed by a clinical test. Here in western North Carolina, you have access to a team of genetic counselors, geneticists and a pharmacist at the Mission Fullerton Genetics Center who can help you understand the complexity of these results and assist you with additional testing if needed.

What If I Have Questions about My Results?

The DTC testing company will often have representatives who can answer your questions. In addition, if clinical testing is necessary, the providers at the Mission Fullerton Genetics Center are available to discuss this further and arrange for appropriate testing as needed. Our team can provide you with information and emotional support to help you make the most informed choices for you and your family.

Chad Haldeman-Englert, MD, FACMG, is a physician and clinical geneticist with Mission Fullerton Genetics Center.

Fullerton Genetics Center is the region’s only comprehensive genetics and personalized medicine program with two geneticists, six genetic counselors and a licensed clinical pharmacist. Our genetics center provides services for individuals of all ages, from newborn to adult, with a known or suspected genetic disorder, birth defect, intellectual disability, dysmorphic features, an increased risk for similar problems in pregnancy or by birth, as well as drug metabolism concerns in children and adults. The team can help you understand your genetic test results or help you choose the right test. Learn more or contact the Fullerton Genetics Center.