On November 6, 2017, the U.S. Food and Drug Administration (FDA or the Agency) announced a series of actions it is taking with regard to certain in vitro tests to speed the time to market for such tests.

First, the Agency announced a series of actions with regard to direct-to-consumer tests intended to evaluate genetic risks (tests generally designed to allow consumers to obtain genetic risk results online by simply providing the test provider with a saliva sample). The test results can inform a consumer about his or her predisposition to certain diseases and conditions, permitting the consumer to make health and lifestyle changes accordingly. With regard to these types of tests, the Agency issued a final order reclassifying certain genetic health risk tests and a notice of intent to exempt genetic health risk assessment systems from premarket notification requirements, subject to certain limitations. The Agency also issued a final order exempting, with certain limitations, autosomal recessive carrier screening gene mutation detection systems from premarket notification requirements. This type of device is described as a qualitative in vitro molecular diagnostic system used for genotyping of clinically relevant variants in genomic DNA isolated from human specimens intended for prescription use or over-the-counter (OTC) use. The device type is intended for autosomal recessive disease carrier screening in adults of reproductive age.

Second, the Agency announced two actions related to certain vitamin D tests, including a final order reclassifying certain vitamin D tests and a notice of intent to exempt the tests from premarket notification requirements.

The five Agency actions are discussed separately in detail below.

1. Special Controls for Genetic Health Risk Tests

First, the FDA published a final order classifying OTC genetic health risk assessment systems into class II, subject to special controls.

As a device that was not in commercial distribution before May 28, 1976 (a post-amendments device), the device type was previously automatically Class III by operation of law. The FDA's action follows a 2016 request from 23andMe, Inc. for de novo classification of the 23andMe Personal Genome System (PGS) test. In April 2017, the FDA issued an order to 23andMe classifying the device into class II. The order codifies the classification by adding 21 C.F.R. § 866.5950. The order names the generic type of device a "genetic health assessment system" and describes the device as a "qualitative in vitro molecular diagnostic system used for detecting variants in genomic deoxyribonucleic acid (DNA) isolated from human specimens that will provide information to users about their genetic risk of developing a disease to inform lifestyle choices and/or conversations with a health care professional." In addition to the classification, this order also establishes the special controls to which the device type is subject (e.g., a user comprehension study, required limiting statements, required summary information to consumers).

2. Proposal to Conditionally Exempt Genetic Health Risk Assessment Systems from Premarket Notification

Second, the FDA published a notice of intent to exempt genetic health risk assessment systems from premarket notification requirements, subject to certain limitations.

The FDA exempts certain class II devices from 510(k) premarket notification when the Agency determines, among other things, that the device does not have a significant history of false and misleading claims or of risk associated with inherent characteristics of the device and that characteristics of the device are well established. See Procedures for Class II Device Exemptions from Premarket Notification, Guidance for Industry and CDRH Staff.

In this notice, the FDA proposes to exempt genetic health risk assessment systems (21 C.F.R. § 866.5950) from 510(k) premarket notification under certain circumstances. Specifically, a manufacturer of these tests would be required to "come to the FDA for a one-time review to ensure that they meet the FDA's requirements, after which they may enter the market with new [] tests without further review." Therefore, if this rule is finalized, a manufacturer of a qualifying genetic health risk assessment system would not be required to submit a premarket notification for subsequent tests after the FDA conducted a one-time review.

Interested parties may comment on this notice for 60 days after it is published in the Federal Register.

3. Autosomal Recessive Carrier Screening Gene Mutation Detection Systems Exempted from Premarket Notification

Third, the FDA published a final order exempting, with certain limitations, autosomal recessive carrier screening gene mutation detection systems from premarket notification requirements.

In October 2015, the FDA announced its intent to exempt certain autosomal recessive carrier screening gene mutation detection systems, which were classified as class II (special controls), from the 510(k) premarket notification. This order finalizes the FDA's determination that certain autosomal recessive carrier screening gene mutation detection systems meet the requirements for exemption from 510(k) premarket notification. Therefore, premarket notifications are no longer required for autosomal recessive carrier screening gene mutation detection systems that meet the requirements of 21 C.F.R. § 866.5940.

4. Special Controls for Total 25-Hydroxyvitamin D Mass Spectrometry Systems

Fourth, the FDA published a final order classifying total 25-hydroxyvitamin D mass spectrometry systems into class II (special controls) following a March 2017 request by AB Sciex LLC for de novo classification of the vitamin D 200M assay for the Topaz system.

The order codifies the classification by adding 21 C.F.R. § 862.1840, which identifies a total 25-hydroxyvitamin D mass spectrometry system as "a device intended for use in clinical laboratories for the quantitative determination of total 25-hydroxyvitamin D (25-OH-D) in serum or plasma to be used in the assessment of vitamin D sufficiency." Similar to the classification of genetic health assessment systems, this order also enumerates the special controls with which a device must comply in order to qualify for classification as a class II device.

5. Proposal to Exempt Total 25-Hydroxyvitamin D Mass Spectrometry Systems from Premarket Notification

Finally, the FDA published a notice proposing to exempt total 25-hydroxyvitamin D mass spectrometry systems from 510(k) premarket notification. This proposal was included in the same notice proposing to exempt genetic health risk assessment systems from 510(k) premarket notification discussed above. If the rule is finalized, a manufacturer of a total 25-hydroxyvitamin D mass spectrometry system will not be required to submit a 510(k) premarket notification if the device meets the general limitations of the exemption.

Interested parties may comment on this proposed exemption for 60 days following publication of the notice in the Federal Register.