What Your Saliva Reveals About You: Direct-to-Consumer Genetic Tests

by | Dec 17, 2018 | Genetics, Medical Devices

Direct-to-consumer (DTC) tests, such as those marketed by 23andMe, are changing the classic paradigm of health professionals ordering and interpreting genetic testing for a patient. In this article, we provide an overview of the DTC landscape and the regulatory pathways.

Not all direct-to-consumer (DTC) genetic tests are regulated by the Food and Drug Administration (FDA). In general, low-risk tests such as ones for general wellness, entertainment, and ancestry exploration are not reviewed by FDA. Tests that have a higher risk, such as those that can indicate a predisposition for a serious disease are reviewed by FDA.

While DTC tests entered the market in an ambiguous regulatory environment, FDA is attempting to streamline the process for consumers to access their personal genetic information while weighing the risks of such tests. Today, DTCs are reviewed by FDA for accuracy, reliability, and consumer comprehension of the limitations of the test.

In 2015, the first DTC test granted FDA marketing authorization, a carrier screening for Bloom Syndrome, was evaluated via the De Novo Classification Request (“De Novo”) pathway. The De Novo process is a way to classify novel medical devices that do not have a marketed predicate device but are not sufficiently complex or of a high enough risk to warrant a Class III classification. When devices are classified into Class I or Class II through a De Novo process, they may be used as predicate devices for future 510(k) submissions.

The following are recent regulations created for DTC tests through the De Novo process:

21 CFR 866.5940 – Autosomal recessive carrier screening gene mutation detection system

21 CFR 866.5950 – Genetic health risk assessment system

21 CFR 862.3364 – Pharmacogenetic test

21 CFR 866.6090 – Cancer predisposition test


As genetic analyses become more affordable, DTC tests are set to become more prevalent. The regulatory framework for these tests have changed remarkably in the past decade, and will continue to evolve as technology improves, more genetic data becomes available for use, and more competitors enter the market.


Do you need assistance in preparing a De Novo Classification Request or do you want to know more about the regulatory pathway for direct-to-consumer tests? Please contact us at (248) 987-4497 or info@emmainternational.com.

Additional Information:

FDA In Vitro Diagnostics: Direct-to-Consumer Tests

Song Seto, Ph.D.

Song Seto, Ph.D.

More Resources

De Novo Classification

De Novo Classification

A device can be registered for the De Novo pathway if there is evidence of the safety and effectiveness of the device and there is not a previously legally marketed predicate device1. When determining if your device can go through the De Novo process there are two pathways available to determine the device classification.
Abbreviated 510k submission

Abbreviated 510k submission

There are three types of 510K, Premarket Notifications, which can be submitted to the Food and Drug Administration (FDA) traditional, abbreviated, and special. Abbreviated and Special 510K submissions can be utilized when the submissions meet the certain factors presented by the FDA. When submitting an abbreviated 510K the submission must include the elements that are identified in 21CFR 807.87 for the information required in a premarket notification submission.
Is your product a medical device?

Is your product a medical device?

Many marketed products are classified as medical devices and you would not even know it. Medical devices range from latex gloves and tongue depressors to respirators and heart valves. To determine if the product is considered a medical device by the Food and Drug Administration (FDA) you will need to analyze if your product meets the definition of a medical device per the Food, Drug, and Cosmetic Act1.

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