Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients

Abstract

Background The American Society of Breast Surgeons recommends genetic testing (GT) for all women with breast cancer (BC), but implementation and uptake of GT has not been well-described. Methods A retrospective chart review was performed for newly diagnosed BC patients or patients with a newly identified recurrence of BC seen in a multidisciplinary clinic (MDBC) who were offered genetic counseling (GC) and GT. Results The 138 women attending the MDBC had a median age of 54 years and comprised non-Hispanic whites (46%), Asians (28%), Hispanics (17%), blacks (4%), and other (5%). Of the 105 (76%) patients without prior GT, 100 (95%) accepted GC, with 93 (93%) of these 100 patients undergoing GT. The patients meeting the National Comprehensive Cancer Network (NCCN) guidelines for GT were more likely to undergo GT. Testing was performed with a 67- to 84-gene panel, together with an 8- to 9-gene STAT panel if needed. Among 120 patients with reports available, including 33 patients previously tested, 15 (12%) were positive (1 BLM , 1 BRCA1 , 3 BRCA2 , 1 BRIP1 , 1 CFTR , 1 CHEK2 , 1 MUTYH , 1 PALB2 , 1 PRSS1 , 1 RAD50 , 1 RET, and 2 TP53 ), 44 (37%) were negative, and 61 (51%) had an uncertain variant. The median time to STAT results ( n = 50) was 8 days. The STAT results were available before surgery for 47 (98%) of the 48 STAT patients undergoing surgery. Conclusions New BC patients attending the MDBC demonstrated high rates of acceptance of GC and GT. The combination of GC and GT can offer timely information critical to patient risk assessment and treatment planning.

Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making

“…The rate of test uptake (192/210, > 90%) was similar to the 93% reported in a recent cohort of unselected BC patients seen at a comprehensive cancer center. 37 Of note, in that study, all patients met with a genetic counselor embedded in their multidisciplinary breast clinic, whereas in our study, pre-test education and the return of GGT results was performed by NGEs. A recent study of breast surgeons reported that those without in-house access to genetics services were more likely to use universal GGT.…”

Germline mutations in hereditary breast-ovarian cancer spectrum in Thailand: Results from multi-gene panel testing in 4,567 Thai patients

“…This proposition was also supported by the 2019 American Society of Breast Surgeons [25]. Owing to a high acceptance rate of genetic testing and counseling, more case detection would bene t treatment, screening, and prevention for patients and family members carrying pathogenic variants [26,27].…”

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand

“…It has been suggested that lowering the age threshold for universal genetic testing could improve the detection rate in breast cancer patients 27 , which was supported by the 2019 American Society of Breast Surgeons 28 . Owing to the high acceptance of genetic testing and counseling, more detection of cases would benefit treatment, screening, and prevention for patients and family members carrying pathogenic variants 29 , 30 .…”