Frequency of Contralateral Prophylactic Mastectomy in Breast Cancer Patients with a Negative BRCA1 and BRCA2 Rapid Genetic Test Result.

BACKGROUND: There is an increasing desire for contralateral prophylactic mastectomy (CPM) among patients with unilateral breast cancer. It is unknown if risk assessment and genetic testing at the time of diagnosis will aid women in their surgical choice. We report on the uptake and predictors of CPM in women receiving a negative genetic test result for BRCA1 and BRCA2 mutations before surgery. METHODS: Women diagnosed with breast cancer between June 2013 and May 2018 were recruited from four academic health sciences centers in Toronto, Canada. Genetic counseling (risk assessment) and genetic testing was performed prior to surgery. Women were asked about their surgical preference before surgery. At 1 year post-surgery we asked what surgery was completed. This study reports on women who received a negative BRCA1/BRCA2 result. RESULTS: A total of 766 women with a mean age of 46 years (range 21-82) were included in the analysis. Before genetic counseling and testing, 37% of the women were undecided or leaning towards CPM; however, after receiving a negative BRCA test, 15% of the women opted for CPM. Thirty percent of women whose mother died of breast cancer elected for CPM, compared with 15% of women whose mother did not die of breast cancer (p = 0.03). CONCLUSIONS: Women receiving a risk assessment and negative BRCA1/BRCA2 genetic test result before surgery use this information to guide their surgical decision. Uptake of CPM for women who were planning on CPM before genetic testing decreases after receiving a negative BRCA1/BRCA2 genetic test result.

Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.

PURPOSE: To evaluate the effectiveness of the Genomics ADvISER (www.genomicsadviser.com) decision aid (DA) for selection of secondary findings (SF), compared with genetic counseling alone. METHODS: A randomized controlled trial (RCT) was conducted to evaluate whether the Genomics ADvISER is superior to genetic counseling when hypothetically selecting SF. Participants were randomized to use the DA followed by discussion with a genetic counselor, or to genetic counseling alone. Surveys were administered at baseline and post-intervention. Primary outcome was decisional conflict. Secondary outcomes were knowledge, preparation for, and satisfaction with decision-making, anxiety, and length of counseling session. RESULTS: Participants (n = 133) were predominantly White/European (74%), female (90%), and ≥50 years old (60%). Decisional conflict (mean difference 0.05; P = 0.60), preparation for decision-making (0.17; P = 0.95), satisfaction with decision (-2.18; P = 0.06), anxiety (0.72; P = 0.56), and knowledge of sequencing limitations (0.14; P = 0.70) did not significantly differ between groups. However, intervention participants had significantly higher knowledge of SF (0.39; P < 0.001) and sequencing benefits (0.97; P = 0.01), and significantly shorter counseling time (24.40 minutes less; P < 0.001) CONCLUSIONS: The Genomics ADvISER did not decrease decisional conflict but reduced counseling time and improved knowledge. This decision aid could serve as an educational tool, reducing in-clinic time and potentially health care costs.

Development of patient "profiles" to tailor counseling for incidental genomic sequencing results.

Guidelines recommend that providers engage patients in shared decision-making about receiving incidental results (IR) prior to genomic sequencing (GS), but this can be time-consuming, given the myriad of IR and variation in patients' preferences. We aimed to develop patient profiles to inform pre-test counseling for IR. We conducted semi-structured interviews with participants as a part of a randomized trial of the GenomicsADvISER.com, a decision aid for selecting IR. Interviews explored factors participants considered when deliberating over learning IR. Interviews were analyzed by thematic analysis and constant comparison. Participants were mostly female (28/31) and about half of them were over the age of 50 (16/31). We identified five patient profiles that reflect common contextual factors, attitudes, concerns, and perceived utility of IR. Information Enthusiasts self-identified as "planners" and valued learning most or all IR to enable planning and disease prevention because "knowledge is power". Concerned Individuals defined themselves as "anxious," and were reluctant to learn IR, anticipating negative psychological impacts from IR. Contemplators were discerning about the value and limitations of IR, weighing health benefits with the impacts of not being able to "un-know" information. Individuals of Advanced Life Stage did not consider IR relevant for themselves and primarily considered their implications for family members. Reassurance Seekers were reassured by previous negative genetic test results which shaped their expectations for receiving no IR: "hopefully [GS will] be negative, too. And then I can rest easy". These profiles could inform targeted counseling for IR by providing a framework to address common values, concerns. and misconceptions.