What should be included in the consent form for BRCA (Breast Cancer Gene) screening for a 30-year-old female with a family history of breast cancer?

BRCA Genetic Testing Consent: Essential Elements

The consent form must include a thorough discussion of the emotional and psychological impact of a positive test result, as this is essential before proceeding with genetic testing. 1

Key Components Required on the Consent Form

Pre-Test Counseling Requirements

• It is essential that before testing, the individual is fully informed about the implications of testing and has expressed a desire for it. 1
• The consent process must ensure the patient understands that test result interpretation is complex and generally requires post-test counseling. 1
• Access to a health professional trained to provide genetic counseling and interpret test results must be confirmed before proceeding. 1

Emotional and Psychological Impact Discussion

• The consent must explicitly address the emotional impact of a positive test result, including potential anxiety, depression, and effects on family relationships. 1
• Patients should understand that genetic testing results can affect not only themselves but also their family members who may share the mutation. 1
• The psychological burden of knowing mutation status, even when negative, should be discussed as some women experience ongoing anxiety. 1

Test Result Interpretation Categories

The consent must explain all possible test outcomes: 1

• Positive result: A potentially harmful mutation is detected, conferring significantly elevated breast and ovarian cancer risk
• Variant of uncertain clinical significance: A genetic change is found but its clinical meaning is unclear
• Uninformative-negative: No mutation detected, but no affected relatives have been tested or no mutations found in tested relatives (breast cancer risk remains increased in these women)
• True-negative: No mutation detected when a familial mutation is already known (generally reassuring about inherited risk)

Testing Strategy Based on Family History

• The preferred strategy is to test an affected family member first (in this case, the relative diagnosed at age 45) to determine if a clinically significant mutation exists in the family. 1
• If no affected relative is available for testing, it is reasonable to proceed with testing the unaffected individual, but this should be clearly explained as potentially yielding uninformative results. 1
• The consent should note that an uninformative-negative result in an unaffected person does not rule out hereditary risk. 1

Clinical Utility and Limitations

The consent must clarify what the test can and cannot do:

• The test does NOT prevent future cancer risk—it only identifies genetic predisposition. 1
• A positive result enables access to risk-reduction interventions including enhanced screening (MRI plus mammography starting at age 25-30), chemoprevention, and risk-reducing surgery. 1
• Risk-reducing bilateral mastectomy reduces breast cancer risk by 85-100%, and bilateral salpingo-oophorectomy reduces ovarian cancer risk by 69-100% and is associated with 55% relative reduction in all-cause mortality in BRCA carriers. 1

Age Appropriateness

• The statement that "the test is useless at her age" is incorrect and should NOT be included—BRCA screening should begin once women reach age 18 (age of consent), and this 30-year-old patient is an appropriate candidate. 1
• Her family history of a first-degree relative diagnosed at age 45 meets NCCN criteria for genetic counseling and potential testing. 1

What NOT to Include

• Do NOT discontinue counseling because she has no symptoms—BRCA testing is specifically for asymptomatic individuals at risk based on family history. 1
• Do NOT state the test will prevent future cancer—this is misleading as the test only identifies risk, not prevents disease. 1

Common Pitfalls to Avoid

• Failing to explain that a negative result in an unaffected person (without testing affected relatives first) may be uninformative and does not eliminate hereditary risk. 1
• Not discussing insurance discrimination concerns and protections under the Genetic Information Nondiscrimination Act. 1
• Proceeding without confirming the patient has access to appropriate genetic counseling resources for result interpretation. 1
• Underestimating the psychological impact—studies show significant emotional distress can occur regardless of test outcome. 1