Test type
Carrier screening tests: what FDA reviews
For people who want to know: whether I carry a variant I could pass to a child.
What FDA says
Exempt from premarket notification, with conditions
FDA: “These tests can be used to determine whether a healthy person carries a genetic variant that could be passed on to their potential future child(ren).” (U.S. Food and Drug Administration)
FDA explains the inheritance pattern these tests are about: “These tests are for disorders where two copies of an abnormal gene variant must be present for the disease or condition to develop, meaning that each parent has one copy of the abnormal variant that could be passed on, giving the child a 25% chance of developing the disease or condition.” (U.S. Food and Drug Administration)
The regulated device type is the autosomal recessive carrier screening gene mutation detection system, defined in 21 CFR 866.5940:
Autosomal recessive carrier screening gene mutation detection system is 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 use. The device is intended for autosomal recessive disease carrier screening in adults of reproductive age. The device is not intended for copy number variation, cytogenetic, or biochemical testing.
Its exemption from premarket notification has conditions written into the same regulation:
The device is exempt from the premarket notification procedures in subpart E of part 807 of this chapter subject to the limitations in § 866.9, except § 866.9(c)(2). Autosomal recessive carrier screening gene mutation detection system must comply with the following special controls:
The excepted limitation, § 866.9(c)(2), covers devices “For use in screening or diagnosis of familial or acquired genetic disorders, including inborn errors of metabolism;” (21 CFR 866.9) The general limitation in § 866.9 still applies: “The exemption from the requirement of premarket notification (section 510(k) of the act) for a generic type of class I or II device is only to the extent that the device has existing or reasonably foreseeable characteristics of commercially distributed devices within that generic type or, in the case of in vitro diagnostic devices, only to the extent that misdiagnosis as a result of using the device would not be associated with high morbidity or mortality.” (21 CFR 866.9)
Exemption from premarket notification is not exemption from FDA's other requirements. FDA's page puts it this way:
Carrier screening tests are exempt from FDA premarket review, but they do need to follow specific requirements that are described in the regulation for this type of test.
FDA records under product code PKB: one.
23andMe: Bloom syndrome carrier status
Bloom syndrome
What every home DNA result has in common
FDA: “No test is 100% accurate.” (U.S. Food and Drug Administration) MedlinePlus adds that “additional testing through a healthcare provider is usually required before direct-to-consumer test results can be used to diagnose a medical condition or make healthcare decisions.” (MedlinePlus)
Other test types
- Genetic health risk: first test reviewed; later tests exempt, with conditions (FDA's wording and conditions are on that page)
- Cancer predisposition: FDA reviews before sale (FDA's wording and conditions are on that page)
- Pharmacogenetics: FDA reviews before sale (FDA's wording and conditions are on that page)
- Ancestry: not reviewed by FDA (FDA's wording and conditions are on that page)
- Wellness and traits: generally not reviewed by FDA (FDA's wording and conditions are on that page)