Date of Award

Spring 2019

Document Type

Open Access Thesis


Genetic Counseling

First Advisor

Emily Jordon


Individuals with hereditary diffuse gastric cancer (HDGC) caused by a CDH1 mutation have a high lifetime risk of developing gastric cancer. National guidelines recommend CDH1 carriers undergo a prophylactic total gastrectomy (PTG)— a surgery that greatly reduces the risk of developing gastric cancer but has significant comorbidities. This study explores the impact of a diagnosis of HDGC in the transitional life stage between the ages of 18-29 deemed “emerging adulthood.” We surveyed 21 CDH1 carriers and conducted semi-structured phone interviews with 6 CDH1 carriers between the ages of 18-29 to learn about their life experiences regarding education, career, relationships, and family planning. Participants were also asked about their experience with genetic counseling. Specific challenges that were highlighted by participants included time away from work due to doctors’ appointments and surgery recovery, an impact on relationships with family and friends, and difficult choices regarding family planning. Participants also struggle with the burden of being the expert on their condition in relation to their friends and healthcare providers, though they find support and knowledge in online groups for HDGC. These results demonstrate the challenges of an HDGC diagnosis during emerging adulthood. Practice recommendations for genetic counselors include providing HDGC-specific information for anticipatory guidance, family planning options, and psychological health.