@23andMe Granted First FDA Authorization for Direct-to-Consumer Genetic Test on Cancer Risk
Authorization allows 23andMe to report on BRCA1- and BRCA2-related genetic risk for breast, ovarian and prostate cancer
23andMe, Inc., the leading personal genetics company, today received the first-ever FDA authorization for a direct-to-consumer genetic test for cancer risk. The authorization allows 23andMe to provide customers, without a prescription, information on three genetic variants found on the BRCA1 and BRCA2 genes known to be associated with higher risk for breast, ovarian and prostate cancer.
“Being the first and only direct-to-consumer genetics company to receive FDA authorization to test for cancer risk without a prescription is a major milestone for 23andMe and for the consumer,” said Anne Wojcicki, 23andMe CEO and co-founder. “We believe it’s important for consumers to have direct and affordable access to this potentially life-saving information. We will continue pioneering a path for greater access to health information, and promoting a more consumer-driven, preventative approach to health care.”
23andMe will report on three variants in the BRCA1 and BRCA2 genes associated with a significantly higher risk of breast and ovarian cancer in women, and breast cancer in men. The variants may also be associated with an increased risk for certain other cancers. These variants are most prevalent in those of Ashkenazi Jewish descent, and have been observed at much lower rates in other ethnicities. About 1 in 40 individuals of Ashkenazi Jewish descent has one of these three variants. Women with one of these variants have a 45-85% chance of developing breast cancer by age 70.
“This authorization is incredibly valuable for those who might not be aware of their Ashkenazi Jewish descent or aren’t familiar with their family history of cancer,” said Wojcicki. “But it’s important to understand that the majority of cancer is not hereditary, our test does not account for all genetic variants that can cause a higher risk of cancer, and people should continue with their recommended cancer screenings.”
New and existing 23andMe Health + Ancestry Service customers that were genotyped on the company’s most recent platforms will have access to this report in the coming weeks. As with select other Genetic Health Risk reports, customers must specifically choose for themselves if and when they want to receive this information. The report also includes an education module to ensure customers are fully informed on what they can learn from this report and how to use the results.
The 23andMe Personal Genome Service® submission for the BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report was extensively evaluated through the FDA de novo classification pathway, a regulatory process enabling classification and authorization for novel moderate-risk medical devices (FDA authorization # DEN170046). As part of the review process in order to establish safety and effectiveness for this authorization, 23andMe demonstrated a high level of accuracy (greater than 99% concordance to Sanger sequencing) and precision (demonstrated by studies yielding greater than 99% reproducibility and repeatability).
The 23andMe BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report utilizes the same informational concepts previously demonstrated in studies submitted to the FDA for its Genetic Health Risk reports which were shown to have 90% or greater overall user comprehension in a demographically diverse population study.
Current clinical guidelines for genetic risk evaluation are based primarily on personal and/or family history of certain cancers. However, a perspective by Mary Claire-King, Ph.D. (who received the Lasker award in 2014 in recognition of her pioneering discovery of the BRCA1 gene) published in The Journal of the American Medical Association has argued for broader access, citing a study where “50 percent of families found to harbor BRCA1 or BRCA2 mutations had no history of breast or ovarian cancer that would have triggered clinical attention.” (https://jamanetwork.com/journals/jama/fullarticle/1902783)
Consistent with those previous findings, 23andMe found that of those BRCA carriers who gave family medical history, about half reported no history of cancer in first-degree relatives. 23andMe has also observed that many of its customers for whom Ashkenazi Jewish ancestry was detected, did not self report any Jewish ancestry. These individuals might fall outside the guidelines of clinical testing.
With this authorization, 23andMe continues to pioneer consumer access to genetic information, and remains the only company able to offer genetic health risk reports without a prescription. This authorization is the third de novo authorization granted by the FDA to 23andMe. 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 has since enabled the company to bring 40+ carrier status reports directly to customers. These reports convey risk for diseases that may be passed to offspring. In April 2017, 23andMe was granted authorization by the FDA to market the first direct-to-consumer genetic health risk reports, to date the Company has launched 9 reports for a variety of genetic health risks.
The intended use of 23andMe BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report:
Indications for Use: The 23andMe Personal Genome Service (PGS) uses qualitative genotyping to detect select clinically relevant variants in genomic DNA isolated from human saliva collected from individuals ≥ 18 years with the Oragene Dx model OGD500.001 for the purpose of reporting and interpreting genetic health risks, including the 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants). The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of the BRCA1/BRCA2 variants in the general population. The test report does not describe a person’s overall risk of developing any type of cancer, and the absence of a variant tested does not rule out the presence of other variants that may be cancer-related. This test is not a substitute for visits to a healthcare provider for recommended screenings or appropriate follow-up and should not be used to determine any treatments.
About 23andMe
23andMe, Inc. is the leading consumer genetics and research company. Founded in 2006, the mission of the company is to help people access, understand and benefit from the human genome. The company was named by MIT Technology Review in its “50 Smartest Companies, 2017” list, and featured as Fast Company's #2 Most Innovative Health Company in 2018. 23andMe has millions of customers worldwide, with more than 80 percent of customers consented to participate in research. 23andMe, Inc. is located in Mountain View, CA. More information is available at www.23andMe.com.
