23andMe, Inc. Granted First FDA Authorization to Market Direct-to-Consumer Genetic Health Risk Reports
April 6, 2017
Genetic risk reports for Alzheimer’s disease, Parkinson’s disease and Hereditary Thrombophilia included in the FDA authorization, among others
Mountain View, California – April 6, 2017 – 23andMe, Inc., the leading personal genetics company, today announced that the U.S. Food and Drug Administration (FDA) granted the company the first authorization to market genetic reports on personal risk for certain diseases. The authorization includes reports on genetic risk for ten conditions, including late-onset Alzheimer’s disease, Parkinson’s disease, celiac disease and hereditary thrombophilia (harmful blood clots), among others.
“This is an important moment for people who want to know their genetic health risks and be more proactive about their health,” said Anne Wojcicki, 23andMe CEO and co-founder. “The FDA has embraced innovation and has empowered individuals by authorizing direct access to this information. It is a significant step forward for 23andMe and for the adoption of personal genetics.”
23andMe Personal Genome Service® submissions for genetic health risk reports were evaluated through the de novo classification pathway, a regulatory process for low- to-moderate-risk medical devices that are first-of-a-kind, for which special controls can be developed. In addition to general controls the process provides a reasonable assurance of safety and effectiveness of the devices (full list of authorized reports below). Further, the FDA indicated it will create a class II exemption for substantially equivalent reports, opening a pathway for 23andMe to release additional genetic health risk reports.
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 Service 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 February 2015, 23andMe was granted authorization by the FDA to market the first direct-to-consumer genetic test for Bloom Syndrome under the de novo pathway which enabled the company to bring back 35+ carrier status reports which convey inherited risk. Genetic health risk reports, by contrast, convey personal health risk, necessitating a separate FDA review classification pathway.
The intended use of 23andMe Genetic Health Risk Reports:
The 23andMe® Personal Genome Service (PGS) Test and the 23andMe Genetic Health Risk Reports provide the results of qualitative genotyping of clinically relevant variants in genomic DNA isolated from human saliva collected with the Oragene·Dx model OGD-500.001. The PGS Test and the Genetic Health Risk Reports are intended for use by adults, and are not intended for copy number variation, cytogenetic, or biochemical testing.
Specific 23andMe Genetic Health Risk Reports authorized through the de novo pathway:
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. This report includes the two most common variants linked to hereditary thrombophilia.
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. This report includes the two most common variants linked to this deficiency.
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 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.
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.
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. This report covers the three most common variants in the F11 gene that can cause factor XI deficiency.
Celiac disease is a condition that is characterized by bloating, diarrhea, and abdominal pain after eating gluten. This report covers one variant associated with this condition.
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 report includes the most common risk variant for the condition in people of African descent.
Hereditary hemochromatosis is a genetic condition in which the body absorbs too much iron. This leads to iron overload, which can cause liver disease. This report includes the two most common risk variants linked to this condition.
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. This report includes the most common risk variant associated with the condition.
Analytical validity/accuracy and user comprehension:
As part of the review process, 23andMe met certain thresholds for user comprehension of the key concepts conveyed in its genetic health risk reports. This was assessed by user testing across a wide range of demographic characteristics in a controlled lab-based setting.
The analytical testing of the 23andMe genotyping process and the ability to correctly identify the variants in each of these reports had to meet accuracy thresholds of 99 percent or higher, per the review process.
About de novo authorization:
The Food and Drug Administration Modernization Act of 1997 (FDAMA) added the de novo classification option, which provides an alternate path to classify novel devices of low to moderate risk that are not substantially equivalent to an already legally marketed device. Devices that are classified through the de novo process may be marketed and used as predicates for future 510(k) submissions.
23andMe, Inc., headquartered in Sunnyvale, CA, is a leading consumer genetics and research company. Founded in 2006, the company’s mission is to help people access, understand, and benefit from the human genome. 23andMe has pioneered direct access to genetic information as the only company with multiple FDA clearances for genetic health reports. The company has created the world’s largest crowdsourced platform for genetic research, with 80% of its customers electing to participate. The 23andMe research platform has generated more than 180 publications on the genetic underpinnings of a wide range of diseases. The platform also powers the 23andMe Therapeutics group, currently pursuing drug discovery programs rooted in human genetics across a spectrum of disease areas, including oncology, respiratory, and cardiovascular diseases, in addition to other therapeutic areas. More information is available at www.23andMe.com.