What is Direct-to-Consumer Genetic Testing?
Direct-to-consumer (DTC) genetic testing offerings continue to increase in number. Some tests look at ancestry and traits, such as your likelihood to have a unibrow, while others can identify hereditary risks for cancer or heart disease. The name “direct to consumer” means that a health care provider is not involved in the ordering of these types of tests. Rather, a patient orders the test through a website, receives a test kit in the mail, collects a sample of their saliva at home and ships it to the company, and then receive their results via the internet in a matter of weeks -- no office visit necessary.
What You Should Know About Direct-to-Consumer Genetic Testing Companies
You may wonder: are these tests reliable? The answer, like genetics itself, is complicated! While it may not be true of all DTC tests, for some tests the clinical validity (the test's ability to accurately predict the target of interest) is unclear. This means that a result or prediction from a DTC genetic testing company may not be accurate because there is no requirement that companies “prove” their tests are accurate prior to offering them for sale.
In fact, many DTC genetic testing companies recommend that results from their tests be discussed with a health care provider and confirmed in a clinical testing laboratory (tests that are ordered by a health care provider) before being used to make medical decisions.
You should also be aware that DTC genetic testing companies may be involved in research or data sharing efforts. They may ask for your consent to allow them to use your genetic data for research or other purposes. It’s important to read consent documents and the “fine print” of the testing agreement carefully to be sure you are comfortable with the company’s policies.
Does the FDA Regulate Genetic Testing?
The FDA regulates some DTC tests, but many DTC genetic testing companies are not subject to any oversight. In many cases, this means that there is no safeguard against:
- whether a test is accurately and reliably testing your genes
- whether test results can actually predict the target of interest (your ancestry, for example) and/or
- whether the company’s advertising regarding their test is truthful.
Interpreting the Results of DTC Genetic Tests
Interpreting a DTC genetic test result can be complicated, and you may find it useful to discuss your results with a genetic counselor in order to best understand them. In some cases, a positive result may confer a relatively small risk of developing a disease, while in other cases, the risk may be significant. Additionally, a negative result may not rule out the possibility of a genetic risk for disease, as many DTC tests are not comprehensive, and there may be other genetic factors that were not included in the testing.
Additionally, you should be aware that in rare cases, a DTC genetic test may reveal unexpected information, such as previously unknown information regarding biological relationships, including adoption or unknown siblings.
Consult a Genetic Counselor Before Genetic Testing
Consulting with a genetics expert such as a genetic counselor or physician geneticist prior to pursuing DTC genetic testing is recommended to ensure that the test you order will be able to give you the information you are looking for. In many cases, a health care provider-ordered test may be much more useful and accurate than a DTC offering depending on what you are hoping to learn. Additionally, your health insurance company may cover part or the entire cost of a health care provider-ordered genetic test, whereas the cost of a DTC test will typically be out-of-pocket. In other cases, such as ancestry testing, a DTC test may be the best option. Regardless of which test, clinical or DTC, you decide, a genetic expert can still help you navigate the hundreds of different DTC options available and decide where your time and money will be best spent.
A genetic counselor can also discuss issues surrounding genetic discrimination. In some cases, the results of a genetic test may impact your ability to get life, disability or long-term care insurance.
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