Uncertainty in BRCA1 cancer susceptibility testing.

Area of Science:

• Medical Genetics
• Psychosocial Oncology
• Cancer Susceptibility Research

Background:

• Individuals undergoing genetic counseling/testing for hereditary cancer susceptibility experience significant uncertainty.
• Understanding and managing this uncertainty is crucial for patient well-being and informed decision-making.
• BRCA1 mutations confer increased risk for breast and ovarian cancers, necessitating careful genetic evaluation.

Purpose of the Study:

• To investigate the levels and nature of uncertainty in individuals undergoing genetic counseling/testing for breast/ovarian cancer susceptibility.
• To determine if genetic counseling/testing impacts perceived uncertainty.
• To identify specific sources of uncertainty that are most affected by genetic testing.

Main Methods:

• Sixty-three individuals from a BRCA1-mutation-positive kindred participated.
• Participants completed a 12-item uncertainty scale (five-point Likert) before and 1 month after genetic counseling/testing.
• Factor analysis was used to develop a five-item total uncertainty scale; statistical analyses examined changes in uncertainty.

Main Results:

• A five-item uncertainty scale was identified, sensitive to changes pre- and post-testing.
• Reducing uncertainty was a primary motivation for 76% of participants, a factor stable over time.
• Total uncertainty scores significantly decreased after genetic counseling/testing (P = 0.004), particularly regarding early cancer detection and coping with results.

Conclusions:

• Genetic counseling and testing are effective in reducing patient uncertainty related to hereditary cancer susceptibility.
• Testing may empower individuals by reducing uncertainty around controllable health aspects.
• Genetic counselors should provide guidance on managing controllable versus uncontrollable sources of uncertainty.