High patient satisfaction with a simplified BRCA1/2 testing procedure: long-term results of a prospective study

Abstract

Purpose In the BRCAsearch study, unselected breast cancer patients were prospectively offered germline BRCA1 / 2 mutation testing through a simplified testing procedure. The purpose of the present study was to evaluate satisfaction with the BRCAsearch testing procedure and, furthermore, to report on uptake rates of prophylactic surgeries among mutation carriers. Methods Pre-test information was provided by a standardized invitation letter instead of in-person genetic counseling. The patients were offered contact with a genetic counselor for telephone genetic counseling if they felt a need for that. Mutation carriers were telephoned and given a time for a face-to-face post-test genetic counseling appointment. Non-carriers were informed about the test result through a letter. One year after the test results were delivered, a study-specific questionnaire was mailed to the study participants who had consented to testing. The response rate was 83.1% (448 of 539). Results A great majority (96.0%) of the responders were content with the method used for providing information within the study, and 98.7% were content with having pursued genetic testing. 11.1% answered that they would have liked to receive more oral information. In an adjusted logistic regression model, patients with somatic comorbidity (OR 2.56; P = 0.02) and patients born outside of Sweden (OR 3.54; P = 0.01) were more likely, and patients with occupations requiring at least 3 years of university or college education (OR 0.37; P = 0.06) were less likely to wanting to receive more oral information. All 11 mutation carriers attended post-test genetic counseling. At a median follow-up of 2 years, the uptake of prophylactic salpingo-oophorectomy was 100%, and the uptake of prophylactic mastectomy was 55%. Conclusions Satisfaction with a simplified BRCA1 / 2 testing procedure was very high. Written pre-test information has now replaced in-person pre-test counseling for breast cancer patients in our health care region. Electronic supplementary material The online version of this article (10.1007/s10549-018-5000-y) contains supplementary material, which is available to authorized users.

Evaluation of Cancer-Based Criteria for Use in MainstreamBRCA1andBRCA2Genetic Testing in Patients With Breast Cancer

“…It is reassuring that we, and others, have found that patients with cancer are supportive of this testing model. 29,30,31,32,33,34…”

“…7 Many other centers have adopted similar processes, with comparable positive results. 30,31,32,33,34 Herein we report on the development and evaluation of simple, cancer-based eligibility criteria for use in mainstream genetic testing in patients with breast cancer.…”

The New Genomics Era: Integration of genomics into mainstream oncology and implications for psycho‐oncological care

“…Different mainstream models of integrating BRCA testing into the breast cancer pathway have been implemented internationally with great success and high levels of patient and clinician satisfaction . In the United Kingdom, the Mainstreaming Cancer Genetics programme ran from 2013 to 2018 and included testing at diagnosis for young onset (≤45), triple negative, two primary breast cancers ≤60, male breast cancer, or breast cancer plus a first degree relative with breast cancer .…”

“…Different mainstream models of integrating BRCA testing into the breast cancer pathway have been implemented internationally with great success and high levels of patient and clinician satisfaction. [14][15][16][17][18] In the United Kingdom, the Mainstreaming Cancer Genetics programme ran from 2013 to 2018 and included testing at diagnosis for young onset (≤45), triple negative, two primary breast cancers ≤60, male breast cancer, or breast cancer plus a first degree relative with breast cancer. 16 It is predicted that if the United Kingdom adopted the MCG breast cancer mainstream testing guidelines, this would result in 2500 BRCA mutations identified per year and find all BRCA mutations from testing only a third of breast cancer patients most likely to carry a mutation.…”

Informing models of cancer genetics care in the era of multigene panel testing with patient‐led recommendations

“…Though traditional pre‐ and post‐genetic counseling has been shown to improve knowledge related to single gene, or specific cancer syndromes, some studies report that cancer genetic knowledge remains suboptimal even after counseling (Scherr, Christie, & Vadaparampil, 2016). Alternative models of genetic counseling, through telegenetics, or streamlined models have been demonstrated to be acceptable by patients in some settings (Nilsson et al, 2019). Variations in outcomes may exist between different racial and ethnic groups (Hann et al, 2017).…”