Direct-to-consumer genetic testing refers to any DNA test that a person can buy and use without a doctor or genetic counselor ordering it first. A kit is purchased online or over the counter, a saliva or cheek-swab sample is collected at home and mailed to a laboratory, and a report is sent back directly to the person, usually through a website or an application. This is fundamentally different from clinical genetic testing, where a doctor or genetic counselor first evaluates a person’s personal and family medical history, chooses a test suited to a specific medical question, and then reviews the result together with the person afterward.

Direct-to-consumer tests are marketed for several different purposes, and it matters a great deal which one a given product is designed for. Some report on ancestry and geographic origin. Some estimate risk for common, multi-factor conditions such as heart disease or type 2 diabetes based on many genetic variants combined, called polygenic risk. A smaller number look for specific, well-studied disease-causing changes, such as three particular changes in the BRCA1 and BRCA2 genes linked to breast and ovarian cancer risk, or genetic changes linked to conditions such as Parkinson disease. Others are marketed as “wellness” or nutrigenomic products, claiming to guide diet, fitness, or supplement choices based on genetic variants whose everyday relevance is often not well established. A single company’s kit may combine several of these categories in one report, and the quality of evidence behind each category can be very different even within the same kit.

The most important distinction for a patient or family member to hold onto is this: a direct-to-consumer test is not a substitute for a clinical genetic evaluation, even when it examines some of the same genes. It is typically not accompanied by a structured discussion of family history beforehand, and the laboratory generating the report is often not the same one that would be used for a diagnostic evaluation ordered by a physician. Professional bodies including the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors have both stated that when a result raises a genuine medical question, whether reassuring or concerning, it should be discussed with a doctor or genetic counselor rather than acted upon on its own, and the sections below explain why.