Earlier this month, 23andMe, the leading personal genetics company, announced that the FDA has given authorization for the company to market genetic reports on personal risk for certain diseases. This authorization includes reports on late-onset Alzheimer’s disease, Parkinson’s disease, hereditary thrombophilia, and others.

Included in these reports is a test for GBA, the gene related to Gaucher disease. Of the over 300 known gene mutations that cause Gaucher, the test will screen for N370S, 84GG, and V394L variants in the GBA gene. This report describes if a person has variants associated with an increased risk for developing carrier status for Gaucher disease type 1 in adults. This report also describes if a result is associated with personal risk for developing symptoms of Gaucher Disease Type 1, but it does not describe a person’s overall risk of developing Gaucher Disease Type 1. This test is most relevant for people of Ashkenazi Jewish descent.

We applaud 23andMe and their efforts to offer these genetic reports to the public.

To learn more about 23andMe or to purchase a kit, please visit their website.

It is important to note that the 23andMe screening does not include genetic counseling. If you find out you are a GBA carrier, please reach out to your physician or the National Society of Genetic Counselors to find and speak with a genetic counselor near you.

Please reach out to us to learn more about carrier screening or testing for Gaucher disease as well as to locate resources.