Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.

Area of Science:

• Genetics
• Oncology
• Consumer Health

Background:

• Inherited BRCA gene mutations increase breast and ovarian cancer risk.
• Current testing guidelines are restrictive, limiting access to specific populations.
• The impact of direct-to-consumer (DTC) genetic testing for BRCA mutations is not well understood.

Purpose of the Study:

• To assess consumer emotional and behavioral responses to DTC reports of BRCA mutations.
• To quantify the benefits and risks associated with direct consumer access to BRCA mutation information.
• To evaluate the cascade effect of DTC BRCA testing on family members.

Main Methods:

• Recruited BRCA mutation carriers and non-carriers from a DTC genetic testing database.
• Conducted semi-structured phone interviews to gather data on emotional responses, risk perception, and actions taken.
• Matched mutation-negative customers for age, sex, and ancestry for comparison.

Main Results:

• Most BRCA mutation carriers reported neutral or moderate, transitory anxiety.
• Carrier women pursued medical advice and risk-reducing procedures; male carriers alerted female relatives.
• Family screening identified 13 additional mutation carriers, demonstrating a cascade effect.
• Non-carriers did not engage in inappropriate actions like foregoing cancer screening.

Conclusions:

• Direct access to BRCA mutation testing offers clear benefits, including increased awareness and proactive health measures.
• The study identified a cascade effect, leading to further testing and identification of carriers within families.
• Broader screening for these BRCA mutations in Ashkenazi Jewish populations should be considered due to the absence of significant adverse psychological impact.