Science

23andMe is the first and only company that has received marketing authorization from the FDA for a direct-to-consumer genetic test.

We have genotyped more than 1 million people in our CLIA-certified and CAP-accredited laboratory. Our scientific processes have been designed with the goal of providing our customers with accurate, high-quality data in a format that is easy to understand and interpret. Each step in our workflow is carefully monitored and validated through quality control measures that ensure your patient’s data accurately reflects their genetic makeup.

Methods

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 which analyzes 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 analyzes approximately half a million variants. This custom chip has been designed to include variants:

  • In medically relevant genes
  • Involved in drug metabolism, efficacy and side effects
  • With known disease associations
  • Associated with traits
  • Used to assign genetic ancestry and ethnicity

Analytic validity

23andMe is the first and only company that has received marketing authorization from the FDA for a direct-to-consumer genetic test.

Our carrier status test results* are analytically validated and meet FDA requirements. Specific data on the analytic validity of the variants used in each report can be found on the scientific details page of each report.

For example: 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

We have established the clinical validity of our carrier status tests* based on FDA guidelines.

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 status reports, there must be sufficient evidence to establish the pathogenicity defined by:

  • Inclusion in at least two clinical studies, and
  • Functional evidence to support the pathogenicity of each variant and/or inclusion in professional society guidelines.

Prior to inclusion, each variant undergoes review by 23andMe’s scientific and medical teams to ensure that there is sufficient evidence to warrant inclusion.

Variant coverage

Variant coverage represents the proportion of disease-causing alleles in people with a given condition that would be detected by the test, sometimes referred to as the detection rate.

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.

CLIA certification and CAP accreditation

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.

Regulatory status

In 2015, 23andMe became the first and only company to receive marketing authorization for a direct-to-consumer genetic test for Bloom Syndrome.

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 our consumers' privacy and data security very seriously

Our consumers are in control of their genetic information.

At their discretion, our consumers can choose to authorize 23andMe to share their data with specific individuals, like their families, medical professionals or other institutions conducting disease research. We take all efforts to make sure they have complete control over access to their information.

We will not share your patients’ individual data without their explicit consent and we do not provide information to law enforcement unless required to comply with a valid subpoena or court order.

And we encourage your patients to understand the extent of their legal protection, under the United States’ Genetic Information Nondiscrimination Act (GINA) —a law that protects against employer and health insurance company discrimination based on one’s genetics.

23andMe customer data is protected by state-of-the-art physical, technical, and administrative security measures.

Read more

Limitations associated with genetic raw data

We support open access to patient genetic information, but you and your patients should understand that there are limitations.

  • The data is suitable only for research, educational, and informational uses.
  • The data is not suitable for medical or other uses.
  • The raw data could include sensitive information. Within the raw data, your patients could discover sensitive information about themselves and the family members with whom they share their DNA. For example, comparing data between family members could reveal non-paternity.

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The 23andMe Medical Professional Community is designed to help medical professionals better understand the 23andMe experience. By registering for the program, medical professionals will receive important updates from 23andMe, including notices about new features and upcoming educational programs, and opportunities to engage with 23andMe in a variety of ways (e.g., surveys, research, collaborations). You can also connect with a member of the 23andMe medical team.

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