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How can I be sure a genetic test is valid and useful?
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Testing

How can I be sure a genetic test is valid and useful?

Before undergoing genetic testing, it is essential to evaluate the test's accuracy and clinical utility through three primary measures: analytical validity, clinical validity, and clinical utility.

Measures of Test Quality

To ensure a genetic test is reliable, it must be evaluated based on three specific criteria:

  • Analytical validity: Refers to how well the test accurately detects the presence or absence of a particular gene or genetic variant.
  • Clinical validity: Refers to how well the specific genetic variant being analyzed is related to the presence, absence, or risk of a particular disease.
  • Clinical utility: Refers to whether the test provides information that is actually helpful for the diagnosis, treatment, management, or prevention of a disease.

Regulatory Standards

Laboratories performing health-related genetic testing are subject to federal standards known as the Clinical Laboratory Improvement Amendments (CLIA), or in some cases, stricter state requirements. CLIA standards are designed to ensure analytical validity by regulating:

  • How tests are performed.
  • The qualifications of laboratory personnel.
  • Quality control and testing procedures.

It is important to note that CLIA standards do not address clinical validity or clinical utility. The Food and Drug Administration (FDA) requires information regarding clinical validity for certain tests, particularly those that influence medical care. Additionally, clinical utility is often determined by health care providers, patients, and insurance companies rather than federal regulation.

Direct-to-Consumer Testing

Determining the quality of genetic tests sold directly to the public can be challenging. Many of these providers are not CLIA-certified, and many tests are not regulated by the FDA. If you are considering a direct-to-consumer test, look for providers that offer clear, scientific information regarding the basis of their tests. It is highly recommended to discuss any concerns or results with a qualified health care provider.

Frequently Asked Questions

Direct‑to‑consumer tests often lack CLIA certification and may not meet FDA standards for clinical validity. They can provide useful information about ancestry or risk, but positive findings should be confirmed by a clinician‑ordered, CLIA‑certified test before any medical decisions are made.///
Check the laboratory’s website or request documentation that lists its CLIA certification number. Ask the testing company to provide a copy of the certification and verify it on the CMS CLIA database. A CLIA‑certified lab must follow strict quality control, personnel qualifications, and testing procedures that ensure analytical validity.
nalytical validity refers to the test’s accuracy in detecting a specific genetic variant, measured by sensitivity, specificity, and error rates. Clinical utility, on the other hand, is about whether the test’s results actually help guide diagnosis, treatment, or prevention. A test can be technically accurate but still have limited clinical utility if the information does not change patient management.
Look for published studies that report the test’s sensitivity, specificity, positive predictive value, and negative predictive value for that disease. Also check whether the test has been evaluated in populations similar to yours and whether the variant’s association with the disease is well established in peer‑reviewed literature.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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