The 23andMe Personal Genetic Service has been designed to provide customers with accurate, high-quality data in a format that is easy to understand. Each step in our workflow is carefully monitored and validated through quality control measures to ensure every customer’s data accurately reflects his or her genetic makeup. All samples are processed in labs that meet local regulations.
We use genotyping technology to look at specific genetic variants in the genome that can be informative about an individual’s health and ancestry.
Unlike sequencing that analyzes all nucleotides in a gene to identify changes, genotyping detects specific known variants within the genome. 23andMe uses a leading technology to genotype an individual’s DNA – a custom version of the lllumina Global Screening Array. This custom chip has been designed to include variants:
In 2015, the FDA authorized the marketing of the first DTC genetic health-related test for Bloom syndrome. Since then 23andMe has received FDA authorization in all four categories of DTC genetic tests felt to have an impact on medical care.
These categories include genetic health risk, carrier screening, pharmacogenetics and cancer predisposition. Evaluation and regulation of DTC genetic tests by the FDA are based on analytic validity, clinical validity and how well a consumer understands the descriptive information about the test and its results without the participation of a healthcare provider.
23andMe is the only DTC genetic testing company to receive marketing authorization by the FDA in all four health categories. We currently provide over 60 Genetic Health Risk, Cancer Predispositions, Pharmacogenetics, and Carrier Status reports* to our customers. We believe genetics can be an integral part of healthcare and will continue to work with the FDA to release additional reports.
Analytical validity refers to the accuracy and precision of the 23andMe genotyping platform — or how well each test predicts the presence or absence of specific genetic variants. Our Genetic Health Risk, Cancer Predispositions, Pharmacogenetics, and Carrier Status reports* results are analytically validated and meet FDA requirements. Specific data relative to the analytical validity of the variants used in each report can be found in the Scientific Details of each health report.
Clinical validity is the degree to which a test accurately identifies or predicts a disease of interest. Our Genetic Health Risk, Cancer Predispositions, Pharmacogenetics, and Carrier Status reports* meet FDA requirements for clinical validity.
White Paper 23-15: Scientific Standards for 23andMe’s Health and Trait Reports
Genetic variants must meet one of the following criteria to be included in a Carrier Status report:
Genetic variants must meet the following criteria to be included in a Pharmacogenetics report:
Some Pharmacogenetics reports include examples of medications whose processing may be affected by the genetic variants included in the report. The list of medications (if included) is not a comprehensive list and may change over time as new evidence emerges.
Medications must meet one of the following criteria to be included in a Pharmacogenetics report:
Variant coverage represents the proportion of disease-causing alleles in people with a given condition that would be detected by the test. It varies by condition, and within each condition, it varies by ethnicity. For certain conditions in which a single variant accounts for all known cases of the disease, 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.
To ensure that our customers are able to understand their 23andMe Genetic Health Risk, Cancer Predispositions, Pharmacogenetics, and Carrier Status reports* without relying on a healthcare professional, we have performed rigorous studies and met FDA requirements for consumer comprehension. Overall comprehension rates per test report concept were greater than 90% across all concepts.
A diverse group of people answered questions about the test reports in a controlled, lab-based setting. Comprehension was tested through a two-step process. First, participants’ understanding of genetics was tested prior to viewing the educational module and test reports. Second, participants were shown the educational module and the test reports. Participants then completed the test report comprehension survey.
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