April 3, 2018, at 11 am PT/2 pm ET
BRCA (Selected Variants)* Test for Advocates
In light of the recent FDA approval of the BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report, 23andMe hosted an educational webinar for advocacy organizations.*
The goal of the webinar is to answer questions and ensure you and your teams have the information needed to support constituents who may access the report and receive information relating to their BRCA1- and BRCA2-related genetic risk for breast, ovarian and prostate cancer. The webinar will:
Shirley Wu, PhD, leads the team of PhD scientists responsible for researching, critically evaluating, and writing 23andMe’s health reports. She received her B.S. in Computational Biology from Brown University and her PhD in Biomedical Informatics from Stanford University working with Dr. Russ Altman. Shirley joined 23andMe in 2009 as a Curation Scientist and took on roles at the intersection of product development, scientific critique, regulatory affairs, quality assurance, and science communication. Serving as head of 23andMe’s scientific product team since 2010, Shirley is committed to maintaining rigorous scientific standards, making an accessible and compassionate product experience, and providing information that engages individuals towards better health and wellness.
Stacey Detweiler, MS, LCGC, is a licensed and board certified genetic counselor with 4 years of clinical and research experience in perinatal genetics. She is also an active member of the National Society of Genetic Counselors. Stacey joined 23andMe in 2016 as a Medical Affairs Associate and focused on product, clinical, and educational development. In her previous roles, Stacey served as both a perinatal genetic counselor and clinical research coordinator at Rutgers-Robert Wood Johnson Medical School. She also continued her work as a perinatal genetic counselor providing direct patient care at Palo Alto Medical Foundation.
*The 23andMe PGS test uses qualitative genotyping to detect clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks and reporting carrier status. The relevance of each report varies based on ethnicity. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. Our carrier status reports can be used to determine carrier status, but cannot determine if an individual has two copies of any genetic variant. These carrier reports are not intended to tell an individual anything about risk for developing a disease in the future or anything about the health of a fetus, or newborn child’s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. These reports are intended to provide genetic information that can be used to inform lifestyle decisions and conversations with healthcare professionals, but are not intended to diagnose disease, determine medical treatment or medical intervention including whether to take a medication or how much of a medication to take, or tell the user anything about their current state of health. Any diagnostic or treatment decisions must be based on confirmatory prescription testing and/or other information that you determine to be appropriate for your patient, such as additional clinical testing and other risk factors that may affect individual risk and health care. Warnings & Limitations: 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 BRCA1/BRCA2 variants in the general population. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action.
For important information and limitations regarding other genetic health risk reports and carrier status reports, visit https://www.23andme.com/test-info/.
In November 2013, the U.S. Food and Drug Administration (FDA) required that we cease marketing certain reports until we obtained FDA clearance. The FDA reviewed extensive analytical, clinical and scientific data from peer-reviewed literature that we submitted as well as our study data demonstrating user comprehension of our reports, which we described in this presentation. We can’t speculate on what the FDA will require for future clearances.
The reports included in this recent U.S. Food and Drug Administration (FDA) market authorization cover topics that were previously included in 23andMe’s product. They represent diseases with associated genetic variants known to have a significant impact on risk and include conditions with significant customer interest, such as late-onset Alzheimer’s disease. This authorization does not include cancer risk reports, reports on dominant diseases with complete penetrance or reports about drug metabolism.
At this time, 23andMe does not offer pre- and/or post-test genetic counseling services. Instead, we encourage customers, especially those who may be identified as high risk for a condition, to speak with their healthcare provider and/or meet with a genetic counselor to learn more. Links are provided throughout the report for the “Find a Genetic Counselor Tool” via the National Society of Genetic Counselors. This tool allows individuals to search for those genetic counselors who specialize in at-home or direct-to-consumer DNA testing, some of whom provide services via non-traditional methods such as telephone and video.
We are currently authorized only to provide information about clinically relevant variants associated with higher risk for disease, and specifically for the e4 variant of the APOE gene associated with late-onset Alzheimer’s disease. Additional variants would need to meet the same requirements for clinical and analytical validity and may require additional regulatory processes, so we cannot speculate on whether or when this might happen.
23andMe customers do have access to their raw genetic data, which they can view or download from their 23andMe account. This raw data has undergone a general quality review; however, only a subset of markers has been individually validated for accuracy. Thus this data is only suitable for research, educational and informational use. It is not for medical use.
The U.S. Food and Drug Administration (FDA) authorization includes additional reports and provides a pathway for similar reports meeting the same requirements for clinical and analytical validity. We do plan to add more reports, but we cannot comment on whether or when specific reports might be added. We also cannot comment on future pricing.
It is true that genetic testing for late-onset Alzheimer’s disease is not currently recommended by any healthcare professional organization, one of the reasons being that there is no cure. However, we know from our customers that genetic risk information for late-onset Alzheimer’s disease and Parkinson’s disease is desired. In addition, concerns around significant adverse outcomes from learning such information have been mostly unfounded in the literature. Overall, 23andMe’s mission is to help people access, understand and benefit from the human genome, and providing our customers with these types of reports, so they can choose whether or not they would like to know if their genetics predisposes them to an increased risk for certain conditions, is one way we can work toward that goal.
There is not one simple answer for this question; there are a number of relevant laws. If you’re interested in this topic, we recommend that you perform additional research or consult a lawyer to learn more about anti-discrimination and disclosure laws. At a baseline, federal legislation called the Genetic Information Nondiscrimination Act (GINA) prohibits health insurance companies and employers from making decisions about your coverage or discriminating against you based on your genetics. However, GINA does not include protections for life, disability and long-term care insurance. If you’re located in California, Vermont or Oregon, there are state-level protections in place for those three insurance types.
Regardless of where you live, we won’t share individual-level customer information with anyone, including an insurance company, without explicit consent from the individual.
No. As part of our FDA submissions, we have tested the impact of food, drink, smoking and chewing gum. When used as instructed in the package insert, those do not interfere with results.
Our package insert contains more information about technical performance details.
Stacey Detweiler: I think there is a lot of benefit in having patients exposed to genetics and how it relates to their own health. Some individuals seem very motivated by the information they discover, which can help to engage them and lead them into thinking about health and how genetics and lifestyle all related. It is important, though, to emphasize that the 23andMe Health + Ancestry Service does not diagnose any diseases or conditions and that it does not include all possible genetic variants associated with a condition. However, we strongly believe the information obtained can still be useful when shared with an individual’s healthcare provider. Regarding the genetic health risk reports, knowing that your patient has a genetic risk factor can enable further discussion and identification of additional risk factors that may be present in that patient’s life, such as family history or certain lifestyle choices. I think of the information provided in 23andMe reports as just one piece of a much larger disease risk puzzle because the conditions included in the genetic health risk report category are caused by both genetic and non-genetic factors. Learning more about one’s genetic risk does not complete the disease-risk picture. Instead, genetic risk information is another data point that, when followed up with appropriate diagnostic testing, and/or when taken in context with a patient’s other risk factors, may be able to help improve patient care and lead to a patient who is empowered.
Stacey Detweiler: Customers are encouraged to contact our customer care team at firstname.lastname@example.org. Providers are encouraged to reach out to our Medical Professional Support Team at email@example.com.