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

The Ohio State University

Status

Completed

Conditions

BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome

Treatments

Other: Questionnaire Administration

Procedure: Discussion

Other: Counseling

Procedure: Biospecimen Collection

Other: Best Practice

Procedure: Genotyping

Procedure: Molecular Risk Assessment

Study type

Interventional

Funder types

Other

Identifiers

NCT06534424

OSU-17057

NCI-2022-07731 (Registry Identifier)

Details and patient eligibility

About

This clinical trial evaluates the impact of enhanced risk assessments on knowledge, perceptions, and decisional conflict about cancer prevention in women with a BRCA1 or BRCA2 mutation. BRCA1/2 mutation carriers have a much higher risk of developing breast and ovarian cancer. Due to the high risk of cancer, mutation carriers are provided guidelines on more intensive screening and preventative surgeries such as bilateral mastectomy and bilateral salpingo-oophorectomy. Doctors want to learn if a more personalized risk assessment impacts the patients' risk perceptions and comfort with decision-making around cancer prevention behaviors.

Full description

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.

Enrollment

152 patients

Sex

Female

Ages

18+ years old

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

Primary purpose

Health Services Research

Allocation

Randomized

Interventional model

Parallel Assignment

Masking

None (Open label)

152 participants in 2 patient groups

Arm I (enhanced risk assessment)

Experimental group

Description:

Patients undergo collection of blood or mouthwash samples. 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.

Treatment: