What do the results of direct-to-consumer genetic testing mean?
Direct-to-consumer genetic tests are generally for informational purposes and are not meant to diagnose, prevent, or treat disease; they typically provide estimates of likelihood rather than definitive "yes or no" answers.
Understanding Your Results
Direct-to-consumer genetic testing companies analyze large datasets of genetic variants to predict the likelihood of certain health outcomes. Because these tests differ from clinical genetic testing, it is important to remember that results are often estimates. Companies may provide updates to these results as research and technology improve.
Carrier or Disease Risk Tests
These tests indicate how specific genetic variants may impact disease risk or the likelihood of passing variants to children. They do not look at all genetic factors associated with a disease. A positive result does not mean you will definitely develop a disease, and a reduced risk result does not mean you will never develop it. If your results indicate an increased risk, you may benefit from speaking with a genetic counselor or healthcare professional.
Pharmacogenomic Tests
These tests analyze how genetic variants affect your body's ability to break down (metabolize) medications. While these tests provide insights, many other factors—including sex, age, weight, diet, and other medications—also determine how your body responds to drugs.
Trait Tests
These tests predict the likelihood of having certain physical traits, such as eye color or cheek dimples. Because they do not account for all factors influencing these traits, the results may not always be accurate.
Lifestyle Tests
These tests assess genetic variants related to nutrition (nutrigenomics), fitness, or sleep. The link between genetic variation and complex traits like weight or athletic performance is complicated, making it difficult to predict the significance of these results.
Ancestry Tests
Ancestry results offer clues about geographic origins by comparing your DNA to a reference database. Results are presented as percentage breakdowns and may include maps and chromosome diagrams. Be aware that receiving unexpected or ambiguous information about your background is a potential risk.
Kinship Tests
These tests identify potential biological relationships based on DNA similarities. Like ancestry testing, these can reveal unexpected information about family relationships.
Raw Data
Some companies allow you to download your raw genotype data (the specific A’s, C’s, T’s, and G’s of your DNA). Once downloaded, this data is no longer protected by the original company’s privacy measures. Interpreting this data independently is challenging, and you should carefully assess the credibility and privacy practices of any third-party service you use to analyze it.
Next Steps
If you have questions about your results, you may be able to access professional support through the testing company or your own healthcare provider. Always consult your doctor before making major changes to your health, diet, or fitness management based on these results.