Genetic Testing

Key facts

Laboratory quality law

CLIA, 42 CFR Part 493, administered by CMS

Test kit regulator

FDA, as in vitro diagnostic devices

Anti-discrimination law

Genetic Information Nondiscrimination Act of 2008 (GINA)

Public test registry

NIH Genetic Testing Registry (GTR), voluntary

What is genetic testing?

Genetic testing looks for changes in genetic material that explain a condition, predict risk or guide treatment. A test can examine a single variant, a panel of genes, the whole exome or the whole genome, often using next-generation sequencing (NGS).

Results are reported using variant classification categories such as pathogenic or variant of uncertain significance. A result is only as useful as the classification behind it.

Types of genetic testing

Tests are commonly grouped by purpose:

• Diagnostic testing: confirms or rules out a suspected genetic condition.
• Predictive and presymptomatic testing: assesses future risk in people without symptoms.
• Carrier testing: identifies people who carry one copy of a variant for a recessive condition.
• Prenatal and newborn screening: detects conditions before or shortly after birth.
• Pharmacogenomic testing: identifies variants that affect drug metabolism or response.
• Tumor, or somatic, testing: profiles cancer cells to inform treatment selection.

How genetic testing is regulated

The Clinical Laboratory Improvement Amendments (CLIA) set quality standards for laboratories that test human specimens. The Food and Drug Administration (FDA) reviews commercially distributed test kits and companion diagnostics. Laboratory developed tests, designed and run in a single laboratory, have historically been subject to FDA enforcement discretion.

The FDA issued a final rule in May 2024 to phase in oversight of laboratory developed tests. A federal district court vacated that rule on March 31, 2025, and the FDA issued a rule in September 2025 reverting the regulation to its prior text.

Why genetic testing matters

Testing volume caps the market for biomarker-defined therapies, so diagnostic adoption, laboratory capacity and payer coverage are core inputs to launch planning. The Genetic Testing Registry shows which laboratories offer tests for a given gene or condition, although its information is submitted voluntarily and not independently verified.