The U.S. Food and Drug Administration granted 23andMe authorization to offer ten genetic health risk 
reports including late-onset Alzheimer’s disease, Parkinson’s disease, celiac disease, and a condition associated with harmful blood clots.
For several years, 23andMe has worked on demonstrating that its reports are easy to understand and analytically valid in order to meet FDA requirements. The decision this week provides a clear pathway for submitting additional genetic health risk reports for the FDA’s consideration.
“The FDA has embraced innovation and has empowered people by authorizing direct access to this information,” said 23andMe co-founder and CEO Anne Wojcicki. “It is a significant step forward for 23andMe and for the adoption of personal genetics.”
• Alpha-1 Antitrypsin Deficiency (AATD)
AATD deficiency is a genetic condition that can lead to lung and liver disease. It is caused by decreased levels of the alpha-1 antitrypsin (AAT) enzyme.
• Celiac Disease
Celiac disease is a condition that is characterized by bloating, diarrhea, and abdominal pain after eating gluten.
• Early-Onset Primary Dystonia (DYT1/TOR1A-Related)
Early-onset primary dystonia is a rare genetic condition characterized by involuntary muscle contractions and other uncontrolled movements.
• Factor XI Deficiency
Factor XI deficiency, also known as hemophilia type C, is a bleeding disorder caused by abnormally low levels of a protein called factor XI. When factor XI levels are too low, blood does not form clots properly to stop bleeding.
• G6PD Deficiency
G6PD deficiency is a common genetic condition characterized by episodes of anemia. People with this condition often have no symptoms unless triggered by certain factors. This condition is particularly common in people of African origin.
• Gaucher Disease
Gaucher disease is a rare genetic disorder than can affect many organs. The most common form of this condition is Gaucher disease type 1, which often leads to an enlarged liver and spleen a well as bone abnormalities. A person must have two variants in the GBA gene in order to have Gaucher disease.
• Hereditary Hemochromatosis
Hereditary hemochromatosis is a genetic condition in which the body absorbs too much iron. This leads to iron overload, which can cause liver disease.
• Hereditary Thrombophilia
Hereditary thrombophilia is a predisposition to developing harmful blood clots. These harmful blood clots most commonly form in the legs and can travel to the lungs.
• Late-Onset Alzheimer’s Disease
Alzheimer’s disease is characterized by memory loss, cognitive decline and personality changes. This report identifies the status of a variant in the APOE gene associated with developing late-onset Alzheimer’s disease.
• Parkinson’s Disease
Parkinson’s disease is characterized by problems with movement, tremor and muscle stiffness. This report includes two genetic variants associated with a risk factor for Parkinson’s disease.
The decision on these reports came through the FDA’s de novo classification process. This is a regulatory pathway for first-of-its-kind medical devices that the FDA considers low to moderate risk, but have special controls to ensure safety, effectiveness and accuracy.
For this authorization, 23andMe conducted extensive validation studies for accuracy and user comprehension that met FDA standards.
23andMe is now the only company authorized by the FDA to provide personal genetic health risk reports without a prescription. These reports provide individuals with information about genetic variants that could increase their personal risk for certain diseases.
The company will release its first set of new genetic health risk reports including late-onset Alzheimer’s disease, Parkinson’s disease, hereditary thrombophilia, alpha-1 antitrypsin deficiency, and a new carrier status report for Gaucher’s disease in April, with additional reports to follow. New 23andMe Health + Ancestry customers in the U.S. will have access to these reports. Current 23andMe customers will be notified directly on their eligibility for receiving the new genetic health risk reports.
In addition to the authorization, the FDA indicated it will create something called a “Class II Exemption for substantially equivalent reports.” This opens a pathway for 23andMe to release additional genetic health risk reports that meet this “substantially equivalent” designation.
Prior to this most recent authorization, the FDA authorized 23andMe in February of 2015 to market the first direct-to-consumer genetic test for Bloom Syndrome under the de novo pathway. This in turn enabled the company to bring back more than 35 carrier status reports which identify inherited recessive variants.
Genetic health risk reports, by contrast, convey personal health risk, necessitating a separate FDA review classification pathway. In its decision this week, the FDA specifically authorized 23andMe to market genetic health risk reports through the de novo classification pathway including: alpha-1 antitrypsin deficiency (AATD), celiac disease, G6PD deficiency, hereditary thrombophilia which is associated with blood clotting, early-onset primary dystonia, hereditary hemochromatosis, which is associated with iron overload in the blood, among other reports.
Answers to some of your questions:
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Does this mean 23andMe will bring back all the health reports they previously offered to customers?
We will continue to work with the FDA to offer additional genetic health risk reports to our customers — we can’t speculate on specific new reports or the timing of those reports. - What is a ‘genetic health risk’ report?
A genetic health risk report offers customers the opportunity to see whether they have genetic variants that affect their chances of developing certain health conditions. Some variants can add to a person’s risk, some can lower their risk and others have no effect. Not everyone with a risk variant will develop the health condition and not having a genetic variant does not eliminate the risk of the health condition. -
What does it mean to be granted a de novo authorization?
The Food and Drug Administration Modernization Act of 1997 (FDAMA) added the de novo classification option, which provides an alternate pathway to classify novel devices of low to moderate risk. The de novo process is used by the FDA to grant marketing authorization for devices that are new and unlike any other on the market. In addition de novo marketing authorization means that 23andMe met the FDA’s premarket requirements to demonstrate the following: accuracy, validity and user comprehension. -
When will you be getting clearance for the other health reports?
We do not know, but we will continue to work in close collaboration with the FDA, on additional submissions for other genetic health risk reports. - Is this the first time that the FDA has made this type of authorization for a genetic health report?
In February of 2015 we obtained the first ever FDA authorization for direct-to-consumer genetic testing covering our Autosomal Recessive Carrier Reports which inform people of genetic risks they may pass onto to their children. This new FDA authorization is the first for any direct-to-consumer test which informs individuals about their own genetic health risks.. -
Will this speed up the process for authorization of other reports?
23andMe has now established a regulatory pathway with FDA and designed and validated its products to meet those standards.
