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

Abstract

Original research article INTRODUCTION Multiplex (i.e., multigene) panels including both high-and moderate-penetrance cancer susceptibility genes are currently being used in clinical practice despite questions regarding their clinical utility and no standard approach to genetic counseling and delivery. [1][2][3][4][5][6] The inclusion of genes with varying penetrance and clinical utility has raised concerns. 7 There are both advantages and disadvantages of multigene testing (as opposed to traditional phenotype-driven sequential testing), presenting challenges to patient education and informed decision making.3,7-10 The advantages and disadvantages of testing options must be shared with patients so they can make an informed decision regarding genetic testing. 8,[11][12][13][14] Traditional comprehensive models for pretest counseling and informed consent could be associated with information overload and poor informed decision making. 7,15 In addition, multiplex testing has the potential to increase anxiety, uncertainty, and the adoption of inappropriate screening procedures or risk-reducing surgeries. 3,7 Effective genetic education and counseling could minimize these risks and enhance adaptive responses to receiving multiplex results. 13This study has several aims. First, we sought to obtain patient feedback regarding the tiered-binned model for informed consent and counseling for multiplex testing among patients with a personal or family history of breast cancer. Second, we sought to begin to evaluate patient uptake of testing after pretest counseling and to evaluate informed decision making with the tiered-binned model. Third, we sought to begin to explore short-term cognitive and affective outcomes in clinical populations to better understand the potential risks, benefits, and utilities of incorporating multiplex genetic testing for breast cancer susceptibility assessment in clinical care. Purpose: 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.Methods: BRCA1/2-negative and untested patients completed preand posttest counseling and surveys evaluating testing experiences and cognitive and affective responses to multiplex testing. Results: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. Thirtythree 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. Conclusion:Some pati...

Factors Associated with Interest in Gene‐Panel Testing and Risk Communication Preferences in Women from BRCA1/2 Negative Families

“…Bradbury et al found that previously tested BRCA1/2 negative patients were more likely to go forward with multiplex testing after tiered/binned counseling compared to BRCA1/2 untested patients (BradburyPatrick-MillerEgleston et al, 2015). Patients that received testing did not have significant changes in anxiety, depression, cancer worry and uncertainty.…”

A Review of Consent Practices and Perspectives for Pharmacogenetic testing

“…For complex PGx tests, such as panelbased tests, laboratories could organize patient handouts and consent forms using a 'tiered and binned' approach that focuses on key themes rather than genespecific information [58]. Development of multiple 'tiers' of information to which providers may tailor discussions based on patient needs resulted in increased patient knowledge and patient-reported informed decision [59]. Similar approaches have also been proposed for personal genome testing [60].…”

Public's Views toward Return of Secondary Results in Genomic Sequencing: It's (Almost) All about the Choice

“…Previous studies found that genetic counseling and more extensive knowledge shifted preferences toward a desire for less, rather than more genetic risk information (Bradbury et al, 2015; Middleton et al, 2016). Our study found similar shifts in the public’s policy preferences for the return of secondary genomic results, suggesting that in-depth education and peer deliberation may lead to a more nuanced (and sometimes more critical) view of the value of this type of information.…”

“…However, a few studies have found that preferences shifted toward wanting less information when participants had more extensive knowledge, including that gained as a result of genetic counseling (Bradbury et al, 2015; Middleton et al, 2016). However, there are no in-depth studies of the views of the public after receiving balanced scientific and ethical information relevant to secondary genomic results.…”