Memorial Sloan Kettering Cancer Center, New York, NY
Jada Hamilton , Jessica M. Long , Amanda C. Brandt , Jamie Brower , Heather Symecko , Erin E. Salo-Mullen , Stephanie Christian , Fergus Couch , Judy Ellen Garber , Kenneth Offit , Mark E. Robson , Susan M. Domchek
Background: Germline CDH1 mutations are associated with hereditary diffuse gastric cancer and lobular breast cancer. We conducted a cross-sectional, self-report survey to understand genetic testing experiences, medical management, and psychosocial adaptation among patients with a CDH1 variant. Methods: We recruited participants from the Prospective Registry of Multiplex Testing (PROMPT), an online genetic registry. We invited individuals with a CDH1 variant to complete a survey of validated and investigator-designed items. We computed descriptive statistics, and used t tests and chi-square tests to compare responses of individuals with pathogenic variants (PV) or variants of uncertain significance (VUS). Results: Data were available from 55 individuals (96% female, 89% white, 75% college graduate, age 32-78) with a CDH1 PV (n = 16; 3 with a family history of gastric cancer) or VUS (n = 39; 12 with a family history of gastric cancer). Overall, 82% had received genetic counseling, 73% felt sufficiently informed when they had genetic testing, and participants reported low decisional regret about testing (M±SD= 12.6±20.1 on 0-100 scale); no differences were observed based on CDH1 variant type. Those with VUS were less satisfied with healthcare providers’ knowledge about their CDH1 result than were those with PV (p= .02). Those with PV were more likely than those with VUS to have received a recommendation for prophylactic gastrectomy (44% vs 0%, p< .001). Only 2 participants, both with PV, had a prophylactic gastrectomy. Those with VUS had less knowledge about CDH1 than those with PV (63% vs 93% correct knowledge; p <.001); yet, participants had similar perceptions of cancer risks (ps > .05). Those with PV reported greater testing-related distress (p <.001) and worry about genetic discrimination (p= .05); there were no differences between groups on other emotional outcomes including testing-related uncertainty, positive experiences, or quality of life (ps > .05). Conclusions: Many patients reported being well informed and satisfied with their CDH1 genetic testing decision; yet, patients with VUS and PV each have unique informational and emotional needs warranting additional support.
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