Genetic information is core to our existence. It forms the basis for what makes us similar and unique. It has the potential to unlock ancestry, dictate traits, and influence health. 23andMe was founded with the mission of enabling people to access, understand, and benefit from this powerful information. Over the last nine years we have worked hard to make genetic information easily accessible, affordable, and simple enough for consumers of all education levels to understand, while being interesting enough for consumers to stay engaged and keep learning.
In 2015, the Bloom Syndrome (BLM) test became the first direct-to-consumer genetic test to obtain marketing authorization from the FDA. This is just the beginning of a very exciting genetics revolution that will help genetics become an increasingly important part of our lives.
Samples are processed in a CLIA-certified and CAP-accredited lab.
More than 60 genetic reports are returned to our customers through a private and secure account online. The analysis includes information on carrier status, wellness, genetic traits and ancestry, which enables consumers to learn about genetics and how it may impact their health and spark conversations about family health history.
Unlike sequencing which analyses all nucleotides in a gene to identify changes, genotyping detects specific known variants within the genome. 23andMe uses a custom Illumina HumanOmniExpress-24 format chip that analyses approximately half a million variants. This custom chip has been designed to include variants:
Specific data on the analytic validity of the variants used in each report can be found on the scientific details page of each report.
23andMe is the first and only company that has received marketing authorization from the FDA for a direct-to-consumer genetic test. Accuracy of the Bloom Syndrome test was determined by comparing results from the BLM test with results from sequencing 70 samples. 70 out of 70 genotype results were correct. An additional study evaluated 105 samples at the same two laboratories. Both studies showed equivalent results in detecting carrier status of Bloom Syndrome when the same samples were tested.
Clinical validity is the degree to which a test accurately identifies or predicts a disease of interest. For a variant to be eligible for inclusion in any of the 23andMe carrier reports, there must be sufficient evidence to establish the pathogenicity defined by:
Prior to inclusion, each variant undergoes review by 23andMe’s scientific and medical teams to ensure that there is sufficient evidence to warrant inclusion.
This varies by condition and within each condition it varies by ethnicity. For some conditions there is a single variant that accounts for all known cases of disease and our coverage is >99%. In other cases there are many variants that can cause the disease and we include some but not all of these on our assay. The coverage for specific ethnicities and the specific variants tested can be found in the scientific details section of each report.
23andMe laboratory testing is done in U.S. laboratories certified to meet CLIA (Clinical Laboratory Improvement Amendments of 1988) standards, including qualifications for individuals performing testing and other standards to ensure the accuracy and reliability of results. The laboratory is also accredited by the College of American Pathologists (CAP), which has served as a model for various federal, state, and private laboratory accreditation programs throughout the world.
The FDA has classified carrier status screening* as class II and created a regulatory path for autosomal recessive carrier status screening tests with similar uses. Thirty-five additional carrier status reports in the 23andMe experience also meet FDA standards. 23andMe will continue to seek FDA authorization to offer new reports.
We take all efforts to make sure they have complete control over access to that sensitive information.
Because we believe that people should be protected against genetic discrimination, we encourage consumers to understand the extent of legal protection for their genetic information—in the U.S., under the Genetic Information Nondiscrimination Act (GINA) , a law that protects against employer and health insurance company discrimination based on your genetics, before they share it with anyone.
We strive to be responsible stewards of consumers’ information and to be as transparent as possible about our data use policies and practices. We’ve done our best to ensure information is protected by physical, technical, and administrative security measures.
We support open access to patient genetic information, but you and your patients should understand that there are limitations.
Through our innovative research platform we’ve been able to change the research paradigm and enable consumers to actively participate in genetic research. 23andMe has more than one million genotyped customers worldwide and over 80 percent have consented to participate in research. They have contributed over 300 million phenotypic data points, resulting in over 30 publications. Our research is conducted independently and in collaboration with third parties including leading academic institutions such as University of Chicago, the MRC Epidemiology Unit, University of Cambridge, Stanford University, and the Broad Institute of MIT and Harvard; industry such as Pfizer and Genentech; and non-profits such as the Lupus Research Institute, The Michael J Fox Foundation and the National Parkinson Foundation.
Discoveries include a host of new disease genetic associations as well as understanding consumer comprehension of, and behaviors in response to, direct-to-consumer genetic test results.
Over time there has been an increasing recognition of the power of Big Data and the methods that 23andMe has pioneered to analyze the genome. In 2015, in response to this growing understanding, we announced a new therapeutics group to advance our understanding of the biological mechanisms of disease and work towards identifying drug targets, and ultimately accelerate drug development.
*Our tests can be used to determine carrier status in adults, but cannot determine if you have two copies of the genetic variant. Each test is most relevant for people of certain ethnicities. The tests are not intended to diagnose a disease, or tell you anything about your risk for developing a disease in the future. On their own, carrier status tests are not intended to tell you anything about the health of your fetus, or your newborn child’s risk of developing a particular disease later in life.