FDA. US: : The U.S. Food and Drug Administration today authorized for marketing 23andMe’s Bloom Syndrome carrier test, a direct-to-consumer (DTC) genetic test to determine whether a healthy person has a variant in a gene that could lead to their offspring inheriting the serious disorder.
Along
with this authorization, the FDA is also classifying carrier screening
tests as class II. In addition, the FDA intends to exempt these devices
from FDA premarket review. The agency plans to issue a notice that
announces the intent to exempt these tests and that provides a 30-day
period for public comment. This action creates the least burdensome
regulatory path for autosomal recessive carrier screening tests with similar uses to enter the market.
“The
FDA believes that in many circumstances it is not necessary for
consumers to go through a licensed practitioner to have direct access to
their personal genetic information. Today’s authorization and
accompanying classification, along with FDA’s intent to exempt these
devices from FDA premarket review, supports innovation and will
ultimately benefit consumers,” said Alberto Gutierrez, Ph.D., director
of the Office of In Vitro Diagnostics and Radiological Health in the
FDA’s Center for Devices and Radiological Health. “These tests have the
potential to provide people with information about possible mutations in
their genes that could be passed on to their children.”
In general, carrier testing is a type of genetic testing performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children. A carrier for a genetic disorder has inherited one normal and one abnormal allele
for a gene associated with the disorder. A child must inherit two
abnormal alleles, one copy from each parent, in order for symptoms to
appear.
No test is perfect. Given the probability of
erroneous results and the rarity of these mutations, professional
societies typically recommend that only prospective parents with a family history of a genetic disorder
undergo carrier screening. For example, when a gene mutation is
expected to be very rare, a positive result for the mutation may have a
high probability of being wrong.
Like other home-use tests for
medical purposes, the FDA requires the results to be conveyed in a way
that consumers can understand and use. This is the same approach the FDA
has taken with other over-the-counter consumer products such as
pregnancy, cholesterol and HIV tests for home use.
While
the FDA is not limiting who should or should not use these tests, it is
requiring that the company explain to the consumer in the product
labeling what the results might mean for prospective parents interested
in seeing if they carry a genetic disorder.
If sold over the
counter, the FDA is also requiring 23andMe to provide information to
consumers about how to obtain access to a board-certified clinical
molecular geneticist or equivalent to assist in pre- and post-test
counseling.
23andMe performed two separate studies to
demonstrate that their test is accurate in detecting Bloom syndrome
carrier status. One study conducted at two laboratories tested a total
of 123 samples, including samples from known carriers of the disease. An
additional study evaluated 105 samples at two additional laboratories.
Both studies showed equivalent results in detecting carrier status of
Bloom syndrome when the same samples were tested.
The company also
conducted a usability study with 295 people not familiar with the
23andMe saliva collection device to demonstrate consumers could
understand the test instructions and collect an adequate saliva sample.
Finally,
the company conducted a user study of 302 randomly recruited
participants representing the U.S. general population in age, gender,
race and education level to show the test instructions and results were
easy to follow and understand.
The test is intended only for
postnatal carrier screening in adults of reproductive age, and the
results should be used in conjunction with other available laboratory
and clinical information for any medical purposes.
23andMe
previously marketed a Personal Genome Service in the U.S. but it ceased
providing direct health information to U.S. consumers after the FDA
issued a 2013 Warning Letter.
The letter directed the company to stop selling the product because of
failure to obtain marketing clearance or approval to assure their tests
were accurate, reliable and clinically meaningful.
23andMe is based in Mountain View, California.
The
FDA, an agency within the U.S. Department of Health and Human Services,
protects the public health by assuring the safety, effectiveness, and
security of human and veterinary drugs, vaccines and other biological
products for human use, and medical devices. The agency also is
responsible for the safety and security of our nation’s food supply,
cosmetics, dietary supplements, products that give off electronic
radiation, and for regulating tobacco products.