EP170/#317 Facilitated cascade testing for families with identified mutations associated with hereditary gynecologic cancers. (4th December 2022)

• Record Type: Journal Article
• Authors: Lee, Sarah; Karpel, Hannah; Brown, Ashley; Smith, Maria; Smith, Julia; Pothuri, Bhavana
• Is Part Of: International journal of gynecological cancer. Volume 32(2022)Supplement 3
• Page Start: A116
• Page End: A117
• Publication Date: 2022-12-04
• Subjects: Generative organs, Female -- Cancer -- Periodicals; 616.99465
• DOI: 10.1136/ijgc-2022-igcs.261
• Languages: English
• ISSNs: 1048-891X

Abstract

Abstract : Objectives: We evaluated the feasibility of a facilitated referral pathway for cascade genetic testing (GT) for patients with mutations associated with gynecologic cancers. Methods: This is a prospective cohort study of patients with BRCA1, BRCA2, BRIP1, MSH2, MLH1, MSH6, PMS2, EPCAM, RAD51C, and RAD51D mutations from March 2019-March 2022. Eligible patients were offered a facilitated referral pathway for GT for first and second-degree relatives ( figure 1 ). Decision Regret Scale and Impact of Events Scale assessed psychological impact at 3-months. The primary outcome was the proportion of patients with a relative who successfully completed GT. Results: Of 583 eligible patients, 73 (13%) enrolled in our study. Reasons for declining participation were: no eligible relatives or previously tested (235, 40%), lost to follow-up (105, 18%), does not want to discuss GT with family (55, 9%), relatives not interested (50, 9%), language (38, 7%), and other (27, 5%). Of 73 enrolled patients, 45 (62%) contacted at least one relative to discuss GT within two months of enrollment. Twelve patients had at least one relative who participated in our facilitated referral pathway, but only 2 (3%) relatives completed GT through our pathway. Two additional relatives underwent GT separately. Of 20 patients who completed 3-month psychological impact questionnaires, 13 (65%) had no regret, and 19 (95%) had none to subclinical range stress. Conclusions: Although over 50% of patients contacted family members regarding GT, only 3% had a relative undergo GT via our facilitated referral pathway. Comprehensive novel efforts to simplify access to GT for relatives are desperately needed.