Hereditary Disease & Genetic Health Risks

The distinction comes down to whether a variant is disease-causing (a primary driver of a specific condition) versus a risk modifier, as well as the strength of evidence supporting that role:

Pathogenic and likely pathogenic (P/LP): These are variants classified as primary drivers of a specific condition. "Pathogenic" indicates that the evidence for a disease-causing role is well established, while "likely pathogenic" describes substantial, though not yet exhaustive, evidence supporting that role. In clinical practice, P and LP variants are typically managed similarly. Depending on the gene and inheritance pattern, a P/LP result might indicate an increased disease risk, explain a clinical diagnosis, or identify a carrier (for example, autosomal recessive conditions like cystic fibrosis).

Risk allele: A variant that influences disease susceptibility, but is neither necessary nor sufficient to cause a condition on its own. Risk alleles are often common in the general population and carry a smaller individual effect size, so many people who carry one never develop the condition. They can help contextualize a patient's overall risk profile alongside clinical history and lifestyle factors.

The variant classification for a given finding appears in the clinical sequencing lab report, which patients using Premium Ancestry + Total Health can download from their account.

No, but coverage depends on the test type.

Patients using Premium Ancestry + Total Health receive exome sequencing, which covers the full coding regions of BRCA1 and BRCA2 along with 30+ hereditary cancer-related genes. Pathogenic and likely pathogenic variants are reported; variants of uncertain significance (VUS) are not.

Patients using Premium Ancestry + Health receive a genotyping-based report that tests 44 specific BRCA1/BRCA2 variants selected for their clinical significance and prevalence. There are more than 4,000 known pathogenic BRCA1/BRCA2 variants, so the genotyping report does not capture all possible risk variants. A negative genotyping result does not rule out hereditary breast and ovarian cancer risk. For patients with a significant personal or family history, referral for comprehensive cancer panel testing is warranted regardless of their 23andMe result.

23andMe's genotyping platform achieves greater than 99% analytical accuracy, making a false positive rare. Even so, the FDA requires that direct-to-consumer cancer risk reports include a prominent label stating that results must be confirmed by an independent clinical genetic test before taking medical action. This requirement reflects the high stakes of cancer risk interventions, including prophylactic surgery and enhanced surveillance, where the consequences of acting on an incorrect result are serious and potentially irreversible.

Certain reports, including Late-Onset Alzheimer's Disease (APOE), Parkinson's Disease, BRCA1/BRCA2 (Selected Variants), and other cancer-related reports, are designated sensitive reports and require a separate opt-in before they can be viewed. This is an FDA requirement and a deliberate design choice. Customers must actively choose to unlock these reports and complete a dedicated educational module before viewing their results. If your patient's report is not visible, they may not have completed the opt-in process. Direct them to their 23andMe account to complete the opt-in steps for any sensitive report they wish to access.

Exome sequencing generates data across all coding regions of the genome, encompassing 20,000+ genes, but clinical reporting is intentionally limited to genes with established clinical validity and actionability. The Premium Ancestry + Total Health sequencing report returns findings most relevant for population screening, specifically genes where evidence supports a clear disease association and where preventive action is possible. This includes all genes recognized by current standards and guidelines to be medically actionable, including those on the ACMG Secondary Findings list.

This means a patient's sequencing data will include information on additional genes that are not reported clinically, and clinical interpretation of that data is not provided.

In addition, for the genes reported on, limitations in coverage apply. See the clinical report for full details.

For patients using Premium Ancestry + Total Health, a clinical sequencing lab report is provided separate from the consumer-facing reports. Ask your patient to download and share this PDF report directly from their 23andMe account. The clinical lab report contains the variant classification (pathogenic, likely pathogenic, risk allele), methodology, laboratory credentials, and the additional variant and gene context to support decision-making. The consumer-facing result is a patient-friendly summary and should not be used as the primary clinical reference.

Genetic counseling may be particularly beneficial in several scenarios. Patients with at-risk hereditary disease findings can benefit from genetic counseling to understand their results, discuss implications for their health, and navigate next steps. Genetic counseling may also be valuable for patients with risk allele findings who want to better understand what their genetics mean for their personal risk, or for patients whose variants may not carry personal health risk but have implications for biological family members.

Patients with a significant personal or family history that may warrant more comprehensive genetic testing beyond 23andMe's coverage (for example, a strong family history of cancer with a negative 23andMe result) should be referred for clinical evaluation.

The National Society of Genetic Counselors offers a search tool to locate genetic counselors.

23andMe reports are population screening tools, designed to identify genetic risk in asymptomatic patients who have no specific indication for testing. Unlike diagnostic testing, which is ordered in response to clinical suspicion, 23andMe can surface an unrecognized hereditary risk before symptoms arise, creating an opportunity for earlier intervention. Most patients who receive an actionable finding have no prior awareness of their risk.

Diagnostic genetic testing is appropriate when there is clinical suspicion: a patient with a strong personal or family history of a hereditary condition, symptoms suggesting a genetic etiology, or a known familial variant.

The Genetic Information Nondiscrimination Act (GINA) prohibits health insurers and employers from discriminating based on genetic information. Patients who receive a positive finding through 23andMe have the same GINA protections as those tested through any laboratory. However, GINA has important limitations: it does not cover life insurance, disability insurance, or long-term care insurance; its employment protections apply only to employers with 15 or more employees; and members of the military are not covered. Patients considering life, disability, or long-term care insurance should be aware that genetic results may be relevant to underwriting in those contexts.

Many states have enacted additional genetic privacy laws that may offer broader protections than GINA. Patients should be encouraged to review their state's specific protections.

23andMe does not share customer genetic data with insurers or employers. For patients with concerns about disclosure, referral to a genetic counselor can help them navigate these decisions before or after testing.