Genetic Testing for Hereditary Breast Cancer: The Decision to Decline

Abstract

Genetic testing is important for comprehensive cancer care. Commercial analysis of the BRCA1/2 genes has been available since 1996, and testing for hereditary breast and ovarian cancer syndrome is well established. The National Comprehensive Cancer Network (NCCN) guidelines identify individuals for whom BRCA1/2 analysis is appropriate and define management recommendations for mutation carriers. Despite recommendations, not all who meet NCCN criteria undergo genetic testing. We assess the frequency that individuals meeting NCCN criteria decline BRCA1/2 analysis, as well as factors that affect the decision-making process. A retrospective chart review was performed from September 2013 through August 2014 of individuals who received genetic counseling at the Levine Cancer Institute. A total of 1082 individuals identified through the retrospective chart review met NCCN criteria for BRCA1/2 analysis. Of these, 267 (24.7%) did not pursue genetic testing. Of the Nontested cohort, 59 (22.1%) were disinterested in testing and 108 (40.4%) were advised to gather additional genetic or medical information about their relatives before testing. The remaining 100 (37.5%) individuals were insured and desired to undergo genetic testing but were prohibited by the expense. Eighty five of these 100 patients were responsible for the total cost of the test, whereas the remaining 15 faced a prohibitive copay expense. Financial concerns are a major deterrent to the pursuit of BRCA1/2 analysis among those who meet NCNN criteria, especially in patients diagnosed with breast or ovarian cancer. These findings highlight the need to address financial concerns for genetic testing in this high-risk population.

Out‐of‐pocket and private pay in clinical genetic testing: A scoping review

“…91 Nevertheless, publications since 2018 demonstrate that OOP cost and/or a lack of insurance coverage continue to present barriers to those who do not qualify for full coverage. 13,30,46,57,58,63 This lies in accordance with recent willingness-to-pay studies, which have found that a significant proportion of patients are unwilling to pay anything at all for genetic testing, and that even relatively small variations in OOP cost can have a marked effect on testing uptake. [92][93][94] Financial barriers can create disparities in clinical outcomes for patients based on their economic resources, as exemplified by the findings that those who did not pursue clinically-indicated genomic testing due to concerns of cost or insurance were equally likely to test positive for a pathogenic or likely pathogenic mutation compared to those who did receive a test.…”

“…Based on clinical indication, the articles 13.6% to 70.4% (Table 2). [9][10][11][12][13] Similarly, a 2019 study involving over 6,000 individuals demonstrated that uninsured patients with an ovarian cancer diagnosis were less likely to pursue genetic testing compared to those with insurance coverage (20.8% vs. 35.3%). 14 Out of pocket cost and a lack of insurance coverage were specifically cited as barriers to testing by young breast cancer survivors, 15,16 those with a personal history of breast cancer and uninformative BRCA test results, 17 and Latina and African-American women.…”

Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort

“…The odds of cascade testing increased with the number of tested individuals within each family, suggesting that family members influence and motivate each other for testing [ 55 ]. Parity is also consistently reported as a reason for cascade testing [ 14 ].…”

Editorial Comment

“…These are reasons for declining GT that have been documented in additional literature. 1 However, after genetic counseling, evidence suggests approximately 95% of patients opt for GT. 2 A higher rate of GT uptake is needed for the purposes of optimizing patient care given recent improvements in accessibility of GT based on cost and impact of treatment changes.…”

“…The authors provide explanations for declining GT, which are highly variable and range from cost to perception of family impact, including privacy concerns and desiring “not to know.” These are reasons for declining GT that have been documented in additional literature. 1 However, after genetic counseling, evidence suggests approximately 95% of patients opt for GT. 2 A higher rate of GT uptake is needed for the purposes of optimizing patient care given recent improvements in accessibility of GT based on cost and impact of treatment changes.…”