Informed Consent for Genetic Testing

Informed consent for genetic testing is the process of ensuring patients understand the nature, purpose, benefits, risks, and limitations of a genetic test before agreeing to undergo it. It is both an ethical obligation and a legal requirement.

• Purpose of the test: What condition(s) it evaluates and why it is being offered
• Nature of the test: What sample is needed, what technology is used
• Possible results: Positive, negative, variant of uncertain significance (VUS), incidental/secondary findings
• Limitations: False negatives, variants not detectable, conditions not covered
• Implications: For the patient (medical management, psychological impact) and family members (cascade testing, at-risk relatives)
• Alternatives: Option to decline testing, alternative testing strategies
• Confidentiality: How results will be stored, who will have access
• Cost: Insurance coverage, out-of-pocket expenses

• Minors: Testing should be deferred unless results would change medical management in childhood. Predictive testing for adult-onset conditions is generally not recommended in minors.
• Reproductive testing: Nondirective counseling is essential. The decision to pursue prenatal or preimplantation testing belongs to the patient/couple.
• Direct-to-consumer (DTC) testing: Patients may present with DTC results. Clinical confirmation in a CLIA-certified laboratory is recommended before medical action.
• Secondary/incidental findings: ACMG recommends reporting pathogenic variants in a defined set of medically actionable genes (ACMG SF list) when performing exome/genome sequencing. Patients should be informed of this possibility and given the option to opt out.

• GINA (Genetic Information Nondiscrimination Act): Prohibits genetic discrimination in health insurance and employment. Does NOT cover life, disability, or long-term care insurance.
• HIPAA: Genetic test results are protected health information.
• State laws: Vary; some states have broader protections than federal law.