Decision Making About Genetic Testing Among Women With a Personal and Family History of Breast Cancer

Abstract

PURPOSE: To understand genetic testing use and decision making among patients with high genetic risk. MATERIALS AND METHODS: A survey of breast cancer survivors was administered online by a hereditary cancer nonprofit organization, Facing Our Risk of Cancer Empowered, from October 2017 to March 2018. RESULTS: Of 1,322 respondents, 46% had breast cancer at age < 45 years, 61% had a first-degree relative with cancer, and 84% underwent genetic testing, of whom 56% had a risk-associated pathogenic variant. Most (86%; 95% CI, 84% to 88%) tested respondents were very satisfied with their testing decision, versus 34% (95% CI, 27% to 41%) of untested respondents. Factors that encouraged testing included relatives’ cancer risk (75%; 95% CI, 73% to 78%), clinicians’ recommendations (68%; 95% CI, 66% to 71%), and potential treatment implications (67%; 95% CI, 64% to 69%). Factors that discouraged testing included insurance concerns (14%; 95% CI, 12% to 16%), cost (14%; 95% CI, 12% to 16%), and discrimination (9%; 95% CI, 7% to 11%). Thirty-nine percent (95% CI, 36% to 41%) recalled hearing from a clinician that genetic discrimination is illegal. Respondents often recalled clinicians informing them about inheritance patterns (65%; 95% CI, 62% to 67%), surgical implications (65%; 95% CI, 63% to 68%), and other cancer risks (66%; 95% CI, 63% to 68%) but less often that results could have potential implications for clinical trial eligibility (38%; 95% CI, 36% to 42%) or targeted therapies (14%; 95% CI, 12% to 16%). Patients who had genetic counseling were twice as likely to recall clinicians informing them about all queried topics. Results did not vary by diagnosis year. CONCLUSION: Among patients with high genetic risk, clinicians’ recommendations, potential treatment implications, and protections against discrimination were motivating factors to undergo genetic testing, but fewer than half recalled clinicians providing all this information, and this did not improve over time. Clinicians influence testing decisions and should inform patients about legal protections and treatment implications.

“I wish that there was more info”: characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants

“…Our study sought to explore and characterize the uncertainty experienced by carriers of pathogenic variants in the moderate-risk cancer genes ATM and CHEK2, drawing on Han's taxonomy of uncertainty. Consistent with other literature [33][34][35], our study found that participants undergo genetic testing because they expect that genetic test results will provide clarification regarding their cancer risks and clear recommendations on how to manage these risks. However, current scientific knowledge for genes such as ATM and CHEK2 may not actually lead to such clarification or recommendations.…”

Association of Family History with the Development of Breast Cancer: A Cohort Study of 129,374 Women in KoGES Data

“…Second-degree family history includes grandparents, aunts, uncles, grandchildren, nieces, nephews, and half siblings. Family history can identify individuals who should be referred for genetic counseling and testing, which causes considerable anxiety in women [ 13 , 14 , 15 ]. Women with a family history of breast cancer can overcome psychological distress by receiving appropriate supportive counselling [ 16 ].…”

Disparities in BRCA counseling across providers in a diverse population of young breast cancer survivors

“…The current study has several strengths including being the first registry-based study to systematically compare associations between socioeconomic and clinical factors and access to GHP among an ethnically and racially diverse sample of young breast cancer survivors treated across multiple healthcare settings, enhancing the generalizability of our findings. Furthermore, our estimates of provider discussion and genetic testing across diverse populations provides updated and novel data, compared to prior efforts with more limited minority representation 32 , 36 , 37 or older cohorts. 31 , 38 Despite these strengths, there remain some limitations, including that although participants were diagnosed within the same four years and eligibility criteria were the same, the Blacks and non-Blacks were recruited under separate protocols, which could contribute to recall bias across populations.…”

“…Pre-test GC through a GHP has also been associated with increased recall about the implications of testing and the laws in place to prohibit insurance companies from denying coverage on the basis of the genetic test result. 36 Consequently, with expansion of gene-based care for those at risk for inherited cancer, these gaps highlight the need to standardize the delivery of pre-test GC to improve care across diverse populations and healthcare settings.…”