Journal Article

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing

Domchek, Susan M., Egleston, Brian L., Bradbury, Angela R., Powers, Jacquelyn, Long, Jessica M., Stevens, Evelyn M., Patrick-Miller, Linda J., Maxwell, Kara N., Harris, Diana, Stopfer, Jill E., Brandt, Amanda, Brower, Jamie, Kulkarni, Abha, Nathanson, Katherine L., Chavez, Tyler, DiGiovanni, Laura

2016

Overview

The risks, benefits, and utilities of multiplex panels for breast cancer susceptibility are unknown, and new counseling and informed consent models are needed. We sought to obtain patient feedback and early outcome data with a novel tiered-binned model for multiplex testing. BRCA1/2-negative and untested patients completed pre- and posttest counseling and surveys evaluating testing experiences and cognitive and affective responses to multiplex testing. Of 73 patients, 49 (67%) completed pretest counseling. BRCA1/2-negative patients were more likely to proceed with multiplex testing (86%) than those untested for BRCA1/2 (43%; P < 0.01). Many patients declining testing reported concern for uncertainty and distress. Most patients would not change anything about their pre- (76%) or posttest (89%) counseling sessions. Thirty-three patients (72%) were classified as making an informed choice, including 81% of those who proceeded with multiplex testing. Knowledge increased significantly. Anxiety, depression, uncertainty, and cancer worry did not significantly increase with multiplex testing. Some patients, particularly those without prior BRCA1/2 testing, decline multiplex testing. Most patients who proceeded with testing did not experience negative psychological responses, but larger studies are needed. The tiered-binned approach is an innovative genetic counseling and informed consent model for further study in the era of multiplex testing.

• Publisher: Elsevier Inc,Nature Publishing Group US,Elsevier Limited
• Subject: 631/208/1516 / 692/699/67/1347 / 692/700/139/1512 / 692/700/228/2050/1510 / Biomedicine / BRCA1 Protein - genetics / BRCA2 Protein - genetics / Breast Neoplasms - diagnosis / Breast Neoplasms - genetics / Breast Neoplasms - psychology / Counseling / Decision Making / Early Detection of Cancer - methods / Female / Genetic Counseling / Genetic Predisposition to Disease / Genetic Testing - methods / genetic testing for cancer susceptibility / Human Genetics / Humans / Informed Consent / informed consent for genetic testing / Laboratory Medicine / Middle Aged / multiplex genetic testing / original-research-article / tiered-binned genetic counseling / Uncertainty