Evolution of At-Home Genetic Testing

From Information and Entertainment to Actionable Medical Tests

If you were a fan of the Winter Olympics like I was, perhaps you saw the seemingly endless parade of TV commercials for AncestryDNA and 23andMe, two of the biggest direct-to-consumer (DTC) genetic testing companies.  If you are not familiar with DTC genetic testing, you can order genetic tests online to learn about your ancestral make-up, certain genetic traits – for instance, whether you are able to smell asparagus in your urine – or information about general wellness like how your body metabolizes caffeine.  You receive a tube to spit in and send back to the lab, where your DNA is analyzed and… voilà! After a few weeks, you can access an online report with all the details of your test results.  

For the most part, DTC genetic testing was traditionally considered informational or entertaining since ancestry information, traits and wellness generally do not have medical significance.

That all changed last year when the Food and Drug Administration (FDA) granted 23andMe authorization to provide information about the risk to develop 10 genetic diseases or conditions.  Now, DTC genetic testing is more robust as you can learn about potentially treatable conditions, such as risk of developing blood clots or iron overload in the blood, as well as serious conditions that have few treatment options like Alzheimer’s and Parkinson’s disease (to read more about this, please check out this previous blog post).  People now have the ability to test for serious medical conditions, and more than one million people ordered a DTC genetic test this past holiday season. 

The evolution of DTC genetic testing that can now potentially diagnose a genetic disease combined with an increased demand for testing has turned the industry into a Wild West of sorts. You can find tests that will tell you whether you face a high risk of developing hereditary forms of heart disease, cancer, diabetes, high cholesterol or other conditions.  The idea is if you are shown to have a genetic risk for developing one of these conditions, this information may translate to medical decisions that you can make to improve your health and prevent disease. For instance, in the case of cancer, you could opt for increased screening than the average person to make an earlier diagnosis or have medical treatments, including surgery, to minimize the effects of the disease or in some cases, prevent the disease from ever occurring. 

DTC Genetic Tests Aren’t the Only Ones Out There

Direct-to-consumer tests aren’t the only genetic tests that you can order online. There are other tests, known as consumer-driven, consumer-directed, or consumer-initiated tests, that differ from DTC tests in at least one important way: a healthcare provider needs to order the test for you. If you don’t have a healthcare provider who is willing to order testing, some of the labs will work with a physician to order the test or connect you with a qualified physician or genetic counselor to help you order the test.  Since these are truly medical tests, which DTC tests cannot be used as medical tests, state and federal regulations require a healthcare provider to be involved in ordering them. 

Many of these consumer-driven tests provide results that help guide doctors in how they treat certain conditions.  For example, pharmacogenomic testing is one emerging type of consumer-driven testing that evaluates specific genes that determine how your body metabolizes medications.  Based on the results, your physician can better determine what medications to prescribe so that you get the desired effect of the medication instead of potentially experiencing significant side effects.

The newest additions to the marketplace are tests for children.  Every state screens newborn infants for 30 or more treatable genetic diseases (the exact number varies by state) and early instances of this testing have been occurring in the U.S. since the 1960s.  One lab recently launched a test that supplements newborn screening by testing for 193 genetic disorders that each have a specific intervention to treat or minimize the disease’s impact on the child. Another lab developed a non-invasive prenatal test for “clinically significant and life-altering single gene disorders” that are not included in standard prenatal testing. Neither of these tests are routinely offered but can be ordered by interested parents who want to know about what may lie ahead for their children.

The involvement of a medical professional – the key difference between DTC and consumer-driven testing – is a good thing.  Knowledge can be empowering, but there are many nuances to genetic testing.  You want to make sure you are getting the right genetic test, that you understand the risks, benefits and limitations of the test you want to order and how the genetic test results are going to impact your health as well as that of your family members.  Having this discussion will better prepare you for the results in the event a genetic risk is identified or may make you rethink the decision about moving forward with genetic testing.  Either way, it may be a good idea to speak to a genetic counselor before considering any genetic testing.  To find one in your area, click here.

Scott M. Weissman, MS, CGC is an NSGC Digital Ambassador and the founder of Chicago Genetic Consultants, LLC.  He provides genetic counseling for adult onset genetic disorders and DTC genetic testing.

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