Genetic counseling, screening and risk reducing practices in patients with BRCA mutations

Abstract

Background: Worldwide practices of genetic counseling remain variable. We present genetic counseling, mammography and MRI screening & risk-reducing surgeries on patients with BRCA mutations & VUS of our BRCA mutations study (El Saghir et al, Oncologist 2015). Methods: Chart review & phone calls for collection of information were done on 45 pts out of the 250 pts tested. IRB approval obtained. 14 pts (5.6% of total) with deleterious mutations & 31 pts (12.4% of total) with VUS were included. 7 pts had metastatic breast cancer. 4 pts were not reachable. We present results on 33 pts for whom we collected information about genetic counseling, screening, Contralateral Prophylactic Mastectomy (CPM) & Risk Reducing Salpingo-oophorectomy (RRSO). Results: 14 pts with deleterious mutations (7 BRCA1 & 7 BRCA2 positive pts) & 19 pts with 20 VUS mutations (4 BRCA1 & 16 BRCA2; 1 pt had both BRCA1 & BRCA2) were examined. Of the 14 pts with BRCA deleterious mutations, 57.14% (8/14 pts) said they received some genetic counseling from their own oncologist and not a specialized genetic counselor. 85.71% (12/14) are undergoing regular screening mammography, 35.71% (5/14) are undergoing regular screening breast MRI. 50% (7/14) underwent CPM & 57.14% (8/14) underwent RRSO. Also, 57.14% (8/14) advised their family members, namely sisters & daughters, to undergo BRCA mutation testing. Of the 19 pts with VUS mutations, only 10.5% (2/19 pts) of the pts said they received some genetic counseling. 78.9% (15/19) are undergoing regular screening mammogram, 31.5% (6/ 19) are undergoing regular screening MRI breasts. 1 pt underwent CPM & 2 pts RRSO. Also, only 21.0% (4/19) advised their family members to undergo BRCA mutation testing. Conclusions: The majority of pts with BRCA mutations continue to undergo screening mammography & breast MRI. Only 50% of pts with BRCA deleterious mutations underwent CPM & 60% RRSO, while a few pts with VUS mutations underwent CPM & RRSO. Genetic counseling is mostly done by medical oncologists. Our data supports recommendations to include genetic counseling in the training and Continuing Medical Education CME of Oncologists, and to improve patient education. More importantly, there is an urgent need for more certified professional genetic counselors in Lebanon & worldwide.