Clinical Impact of Enhanced Risk Assessments in Women With a BRCA1/2 Mutation, CARE Study

PRIMARY OBJECTIVES:

I. To deploy tools for delivering enhanced genetic risk predictions based on BRCA1/2 genetic risk modifiers in a clinical setting and assess the impact of risk stratification on genetic knowledge, risk perceptions and decisional conflict regarding cancer prevention decision-making.

II. To perform long-term follow-up of individuals in the randomized controlled trial (RCT) to determine if there are differences in satisfaction, decision-making and outcomes in individuals who received standard versus enhanced genetic risk predictions over time.

OUTLINE: Patients undergo collection of blood or mouthwash samples. Patients are then randomized to 1 of 2 arms.

ARM I: Patients undergo genotyping with enhanced risk assessment on study. 4 to 8 weeks later, patients receive a follow-up phone call for return of enhanced risk assessment results and tailored counseling.

ARM II: 4-8 weeks later, patients receive a standard follow-up phone call.

After completion of study intervention, patients are followed up for 2 years.

Inclusion criteria

• Have had genetic counseling and testing for mutations in BRCA1 and/or BRCA2 through a Clinical Laboratory Improvement Act (CLIA)-certified laboratory
• Were found to have a known pathogenic mutation upon testing
• Are within 3 weeks of results disclosure
• Have available medical records for ascertainment of clinical information
• Are able to provide a source of deoxyribonucleic acid (DNA) (blood or mouthwash) for study
• Have access to a telephone and a computer or other internet-ready device
• Have not yet had a bilateral prophylactic mastectomy or bilateral Salpingo oophorectomy