Earlier this month, the FDA authorized 23andMe to provide genetic risk information for certain health conditions, including AATD, late-onset Alzheimer’s disease and more.
As genetic health information becomes more accessible to consumers—23andMe has genotyped more than 2 million people—your patients are more likely to discuss genetic health risks with you.
Watch this 23andMe webinar to learn about the new Genetic Health Risk reports*, including the science behind our tests and how genetic risk information is communicated to consumers. The webinar features 23andMe’s Shirley Wu, PhD, Director of Product Science, and Stacey Detweiler, MS, LCGC, Genetic Counselor and Medical Affairs Associate.
This webinar is intended for healthcare professionals, though it is open to educators, researchers, students and lifelong learners.
View sample reports and package inserts for Genetic Health Risk reports.
Roberts J, Ostergren J. Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies. Current Genetic Medicine Reports 2013;1(3):182-200.
Darst, Burcu F. et al. “Characteristics Of Genomic Test Consumers Who Spontaneously Share Results With Their Health Care Provider.” Health Communication 29.1 (2013): 105-108.
Roberts, J. Scott, and Jenny Ostergren. “Direct-To-Consumer Genetic Testing And Personal Genomics Services: A Review Of Recent Empirical Studies.” Current Genetic Medicine Reports1.3 (2013): 182-200.
van der Wouden, Cathelijne H. et al. “Consumer Perceptions Of Interactions With Primary Care Providers After Direct-To-Consumer Personal Genomic Testing.” Annals of Internal Medicine164.8 (2016): 513.
*The 23andMe PGS test uses qualitative genotyping to detect clinically relevant variants in the genomic DNA of adults from saliva collected using an FDA-cleared collection device (Oragene·DX model OGD-500.001) for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. 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. 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 tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication or how much of a medication you should take. Any diagnostic or treatment decisions should be based on testing or other information deemed appropriate by a healthcare professional.
Why did the FDA shut you down before, and what was the key basis for the FDA’s approval? Would that criteria apply to upcoming health reports?
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.
How did you make the decision about which tests could be included? Are there genetic tests that you are not able to offer, and why?
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.
Does 23andMe plan to offer pre- and/or post-test genetic counseling services?
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.
Regarding the late-onset Alzheimer’s disease risk, do you plan to release the complete APOE genotype? The complete genotype will give additional information about risk (E2/E2 versus E3/E3 in those without E4, for example).
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.
How do I take the raw data provided by 23andMe and interpret it for purposes other than what has been FDA approved?
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.
What tests will 23andMe be adding to its panel of reports in the future? Will there be a price increase as tests are added?
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.
Why do you feel comfortable reporting on predispositions for conditions with no cure (e.g., late-onset Alzheimer’s disease)?
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.
What are the laws regarding access to this genetic information? Do the insurance companies have access to this information?
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.
Do results vary if saliva is affected by food, medications, supplements or illness?
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.
How is it best to utilize 23andMe in primary care for the individual?
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.
How can clients and healthcare providers contact 23andMe with any questions or concerns?
Stacey Detweiler: Customers are encouraged to contact our customer care team at customercare@23andme.com. Providers are encouraged to reach out to our Medical Professional Support Team at medical@23andme.com.