Examining patients’ medical and psychosocial experiences following detection of a CDH1 variant with multiplex genetic testing.

Authors

null

Jada Hamilton

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

Organizations

Memorial Sloan Kettering Cancer Center, New York, NY, University of Pennsylvania, Philadelphia, PA, Yale New Haven Health, New Haven, CT, Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA, Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN, Dana-Farber Cancer Institute, Boston, MA

Research Funding

Other Foundation

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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Abstract Details

Meeting

2018 ASCO Annual Meeting

Session Type

Poster Session

Session Title

Cancer Prevention, Hereditary Genetics, and Epidemiology

Track

Prevention, Risk Reduction, and Genetics

Sub Track

Germline Genetic Testing

Citation

J Clin Oncol 36, 2018 (suppl; abstr 1583)

DOI

10.1200/JCO.2018.36.15_suppl.1583

Abstract #

1583

Poster Bd #

154

Abstract Disclosures

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