What’s the Difference Between Direct-to-Consumer and Formal Genetic Testing?

Categories: Genetic Testing

June 16, 2020

Today, more and more people are becoming proactive about their health. And one major way they’re doing so is through genetic testing. According to the American Medical Association (AMA), there are “thousands of genetic tests available to aid physicians in the diagnosis and therapy of many diseases.” And that’s not even counting the tests that can be taken without the assistance of a physician. While taking appropriate measures to get a better handle on your health— and potentially the health of your relatives— is a good thing, it’s highly important to understand that not all genetic tests are created equal and they don’t all test for the same things. In fact, the two major types of available genetic tests have enough differences worth noting before making any final decisions. 

The two main types of genetic tests available include direct-to-consumer (DTC) testing and formal, or clinical, testing. As the name suggests, a direct-to-consumer (DTC) test (also called direct-access genetic testing, at-home genetic testing, and home DNA testing) can be bought over-the-counter by consumers and taken at home. A formal, or clinical, test on the other hand, must be ordered by a healthcare provider and is often administered at the clinic, practice, or hospital.

Direct-to-consumer (DTC) genetic testing has been a relatively new field, but one that has certainly boomed in its short history. DTC genetic testing, also known as consumer-initiated or at-home genetic testing, is any test that does not require written approval from a healthcare professional to be ordered and that is marketed directly to the general public. 

The Difference Between Genetic Testing and Ancestry Testing

Most people who are familiar with at-home genetic testing know it in the context of ancestry testing. These include tests such as AncestryDNA and 23andMe. However, these ancestry genetic tests can sometimes offer additional information for various health conditions like cancer or heart disease, which can be overwhelming news to receive. 

Genetic testing for things like ancestry can be a great way to introduce the general public to genetics. Genetic testing for something as important as cancer risks and other medical concerns should be done with the assistance and guidance of trained professionals. 

To help differentiate DTC genetic testing from formal genetic counseling and testing in the context of medical management, here is a table highlighting just some of the differences.

Direct-to-Consumer Genetic Testing 

Formal Genetic Counseling and Genetic Testing 

Tests for limited number of genes related to particular diseases or cancers 

Testing for multiple genes associated with particular diseases and cancers 

 

Tests for select mutations in specific genes 

 

Tests for a range of mutations in the entire gene 

Additional testing may be required to confirm a mutation that was noted in the DTC test

 

No additional confirmatory testing required 

May not be covered by insurance  

 

Testing mostly covered by insurance 

Limited online education provided 

 

Personalized genetic counseling and risk assessment before and after testing 

 

 

Essentially, consumer genetic testing offers a “one-size-fits-most” approach to patients’ health, while formal genetic counseling and testing offers a personalized approach, enabling a provider trained in genetics to offer testing that is right for your patient.  

Genetic Counselors Play an Important Role in Understanding Your Results

When a patient goes through formal counseling and genetic testing there is interaction with experts in this field who can give you insight and answer questions that you can’t get through an at-home genetic test. Clinical genetic testing typically includes a consultation both before and after your tests with a trained genetic counselor.

As one journalist who received positive DTC genetic test results in an email said, “Talking to someone about the results versus reading them in an online report — even after wading through a long tutorial — was the difference between day and night.” In other words, the results of DTC genetic tests can be hard to understand. 

Should You Use At-Home Genetic Testing for Cancer Genes?

As fascinating and entertaining as DTC testing can be, it’s not the most reliable option if you’re looking for serious answers about your risk for a hereditary disease like cancer. For this reason, as well as the others listed above, it is always best to have a professional genetic counselor interpret results that could impact not only your health but also your family members’ health. Not to mention that unexpected news given to family members about their risk for developing cancer other diseases can be shocking and cause anxiety. A genetic counselor can help you with delivering accurate information to your family’s risk of developing cancer in a way that everyone can understand. 

Virginia Oncology Associates has a team of genetic counselors and other healthcare providers with formal training in genetics. If you’re a patient or you have a family history of cancer, we would be happy to meet and provide a formal assessment and offer appropriate genetic testing. For more information on our genetic counseling team and to schedule an appointment, please visit us here to learn more

View All Genetic Testing Topics