A few years ago, 23andMe offered a direct-to-consumer DNA test kit that provided both genealogical and health information. In November of 2013, the Food and Drug Administration (FDA) required 23andMe to stop offering the health data. They were allowed to continue offering the genealogical information that came from the DNA testing.
In February of 2015, the FDA has granted authorization for 23andMe to market the Bloom syndrome carrier status report. This is significant for a number of reasons. It is the first time that the FDA has granted authorization for a company to market a direct-to-consumer genetic test. It also gives 23andMe some framework for future submissions.
The FDA has confirmed on their website that the organization authorized 23andMe’s Bloom Syndrome carrier test. In addition, the FDA is classifying autosomal recessive carrier screening tests as class II and exempting these devices from FDA premarket review.
What’s a carrier test? The FDA defines it as a type of genetic testing that is preformed on people who display no symptoms for a genetic disorder but may be at risk of passing it on to their children. A person who is a carrier for a genetic disorder has inherited one normal, and one abnormal, allele from their parents for a gene associated with a specific genetic disorder.
The carrier doesn’t have Bloom Syndrome themselves. They just carry an abnormal allele that can cause it. The existence of one gene that can cause Bloom Syndrome is not enough on it’s own. A person who inherits two abnormal alleles for Bloom Syndrome, however, will have the disorder. Two parents, who each carry an abnormal allele that causes a specific genetically heritable disorder, have an increased chance of passing that abnormal gene to their offspring.
The FDA also states that 23andMe’s direct-to-consumer DNA test for Bloom Syndrome is intended only for postnatal carrier screening in adults of reproductive age. The results should be used in conjunction with other laboratory and clinical information for medical purposes.
According to the Center for Jewish Genetics, Bloom Syndrome is caused by changes in the a gene called BLM that is responsible for copying and repairing DNA in cells. The changes result in a high incidence of breaks in a person’s chromosomes.
The most serious manifestations of Bloom’s Syndrome include a predisposition to cancer and a compromised immune system (among other symptoms). There currently is no treatment available for Bloom’s Syndrome. The average age of death for a person who has this genetic disorder is 27 (and is often related to cancer).
Image by Derek Purdy on Flickr.
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