What Are Genetic and Genomic Tests?
Genetic and genomic tests analyze your DNA, chromosomes, and proteins to identify potential inherited conditions, disease risks, and treatment responses.
Types of Testing
Diagnostic Testing
- Identifies specific genetic conditions
- Used when symptoms suggest a genetic disorder
- Can confirm or rule out suspected diagnoses
Predictive Testing
- Determines future disease risks
- Particularly useful for hereditary cancers
- Helps with preventive care planning
Carrier Testing
- Identifies if you carry genes for inherited conditions
- Important for family planning
- Common for conditions like cystic fibrosis
Pharmacogenomic Testing
- Determines how you'll respond to medications
- Helps optimize drug selection and dosing
- Reduces adverse drug reactions
The Testing Process
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Consultation
- Discussion with healthcare provider
- Review of family history
- Assessment of testing benefits
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Sample Collection
- Usually blood draw or cheek swab
- Minimal discomfort
- Quick procedure
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Laboratory Analysis
- Specialized genetic laboratories
- Several weeks for results
- Quality control measures
Understanding Results
Positive Results
- Indicate presence of genetic variation
- May require follow-up testing
- Family members may need testing
Negative Results
- No genetic variation found
- May not rule out all conditions
- Regular medical care still important
Variants of Unknown Significance
- Unclear impact on health
- May require periodic review
- Further research needed
Privacy and Legal Considerations
- Protected health information
- Genetic discrimination laws
- Insurance implications
Cost and Insurance
- Coverage varies by test type
- Pre-authorization often required
- Financial counseling available