What Is Genetic Testing?
Genetic testing examines selected variants, genes, panels, exomes, or genomes for a defined purpose. Test scope, ancestry, laboratory method, counseling, privacy, and confirmatory testing determine clinical value.
Overview
Genetic testing analyzes inherited or acquired DNA variation. The right test depends on the question: diagnosing a suspected condition, hereditary cancer or cardiac risk, carrier status, medication response, or exploratory wellness information.
Different tests answer different questions
- Targeted variant or single-gene testing
- Multigene panels
- Exome or genome sequencing
- Pharmacogenomic tests with drug-specific evidence
- Polygenic risk scores that combine many small associations
- Direct-to-consumer reports covering selected variants
A negative result may be incomplete
A consumer test may assess only selected variants and cannot rule out other disease-associated changes. Risk also depends on age, family history, environment, ancestry, penetrance, and standard clinical factors.
Variants need classification
Pathogenic, likely pathogenic, uncertain, likely benign, and benign classifications have different meaning and can change. A variant of uncertain significance should not generally drive irreversible treatment or predictive testing of relatives.
Privacy and family implications
Results may reveal unexpected parentage or risk for relatives. GINA limits certain U.S. health-insurance and employment discrimination but does not cover all life, disability, or long-term-care insurance situations.
Benefits
Can confirm selected inherited diagnoses
May guide established surveillance or prevention for pathogenic variants
Can identify carrier status and reproductive risk
May inform selected medication decisions when evidence and labeling support it
Can clarify family testing when paired with genetic counseling
The Procedure
1
Pretest counseling
2
Choose the test
3
Collect and analyze
4
Confirm and act carefully
Preparation
Build a three-generation family history, gather relatives’ reports when available, clarify consent and data sharing, and consider insurance implications before testing.
Recovery & Aftercare
No physical recovery beyond sample collection. Emotional and family support may be important after unexpected results.
Risks & Considerations
Anxiety, uncertain or incidental findings, false reassurance, ancestry bias, family conflict, privacy or reidentification risk, insurance implications, unnecessary surveillance, and inappropriate medication changes.
Frequently Asked Questions
References
[1]
FDA: Genetic Health Risk Assessment System Limitations.
https://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfPCD/classification.cfm?id=5380[2]
NHGRI: Genetic Discrimination and GINA.
https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination[3]
NCBI ClinVar.
https://www.ncbi.nlm.nih.gov/clinvar/
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