FDA Authorizes 23andMe’s Direct-to-Consumer Genetic Health Risk Reports

23andMe Inc., the personal genetics company, 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 23andMe’s substantially equivalent reports, opening a pathway for the company 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 35+ carrier status reports directly to its customers. These reports convey inherited risk. Genetic health risk reports, by contrast, convey personal health risk, necessitating a separate FDA review classification pathway.
 
The 23andMe Personal Genome Service (PGS) Test uses qualitative genotyping to detect the following relevant variants in genomic DNA isolated from human saliva collected from individuals ≥ 18 years with the Oragene·Dx model OGD-500.001 for the purpose of reporting and interpreting Genetic Health Risks (GHR).
 
Specific 23andMe Genetic Health Risk Reports authorized through the de novo pathway:
 
Hereditary Thrombophilia
The 23andMe PGS Genetic Health Risk Report for Hereditary Thrombophilia is indicated for reporting of the Factor V Leiden variant in the F5 gene, and the Prothrombin G20210A variant in the F2 gene. This report describes if a person has variants associated with a higher risk of developing harmful blood clots, but it does not describe a person’s overall risk of developing harmful blood clots. This report is most relevant for people of European descent.
 
Alpha-1 Antitrypsin Deficiency (AATD)
The 23andMe PGS Genetic Health Risk Report for Alpha-I Antitrypsin Deficiency is indicated for reporting of the PI*Z and PI*S variants in the SERPINA1 gene. This report describes if a person has variants associated with AAT deficiency and a higher risk for lung or liver disease, but it does not describe a person’s overall risk of developing lung or liver disease. This report is most relevant for people of European descent.
 
Late-Onset Alzheimer’s Disease 
The 23andMe PGS Genetic Health Risk Report for Late-onset Alzheimer’s Disease is indicated for reporting of the ε4 variant in the APOE gene. The report describes if a person’s genetic result is associated with an increased risk of developing Late-onset Alzheimer’s Disease, but it does not describe a person’s overall risk of developing Alzheimer’s Disease. The ε4 variant included in this report is found and has been studied in many ethnicities. Detailed risk estimates have been studied the most in people of European descent.
 
Parkinson’s Disease
The 23andMe PGS Genetic Health Risk Report for Parkinson’s Disease is indicated for reporting of the G2019S variant in the LRRK2 gene and the N370S variant in the GBA gene. The report describes if a person’s genetic result is associated with an increased risk of developing Parkinson’s disease, but it does not describe a person’s overall risk of developing Parkinson’s disease. The test is most relevant for people of European, Ashkenazi Jewish, and North African Berber descent.
 
Gaucher Disease
The 23andMe PGS Genetic Health Risk Report for Gaucher Disease Type 1 is indicated for reporting of the 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.
 
Factor XI Deficiency
The 23andMe PGS Genetic Health Risk Report for Factor XI Deficiency is indicated for reporting of the F283L, E117X, and IVS14+1G>A variants in the F11 gene. This report describes if a person has a variant associated with Factor XI deficiency and the potential for a higher risk of excessive bleeding following trauma or surgery, but it does not describe a person’s overall risk for excessive bleeding. This report is most relevant for people of Ashkenazi Jewish descent.
 
Celiac Disease
The 23andMe PGS Genetic Health Risk Report for Celiac Disease is indicated for reporting of a variant in the HLA-DQ2.5 haplotype. The report describes if a person has a haplotype associated with an increased risk of developing celiac disease, but it does not describe a person’s overall risk for developing celiac disease. This report is most relevant for people of European descent.
 
G6PD Deficiency
The 23andMe PGS Genetic Health Risk Report for Glucose-6-Phosphate-Dehydrogenase Deficiency is indicated for reporting of the Val68Met variant in the G6PD gene. This report describes if a person has a variant associated with G6PD deficiency and a higher risk for episodes of anemia, but it does not describe a person’s overall risk of developing anemia. This report is most relevant for people of African descent.
 
Early-Onset Primary Dystonia (DYT1/TOR1A-Related)
The 23andMe PGS Genetic Health Risk Report for Early-Onset Primary Dystonia (DYT1/TOR1A-Related) is indicated for reporting of the deltaE302/303 variant in the DYT1 gene. This report describes if a person has variants associated with a higher risk for early-onset primary dystonia, but it does not describe a person’s overall risk of developing dystonia. This report is most relevant for people of Ashkenazi Jewish descent.
 
Hereditary Hemochromatosis
The 23andMe PGS Genetic Health Risk Report for Hereditary Hemochromatosis is indicated for reporting of the C282Y and H63D variants in the HFE gene. This report describes if a person has variants associated with hereditary hemochromatosis and a higher risk for iron overload, but it does not describe a person’s overall risk of developing iron overload. This report is most relevant for people of European descent.
 
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.