Author ORCID Identifier

0009-0005-8945-0140

Date of Graduation

5-2026

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Maureen Mork, MS, CGC

Committee Member

Syed Shahrukh Hashmi, MD, PhD, MPH

Committee Member

Paul Mansfield MD, FACS

Committee Member

Gina Sanchez, MS, CGC MB (ASCP)

Committee Member

Julie Moskowitz, MS, CGC

Abstract

Hereditary Diffuse Gastric Cancer (HDGC) is a hereditary cancer syndrome caused by germline pathogenic/likely pathogenic variants in the CDH1 gene, primarily characterized by diffuse gastric cancer and lobular breast cancer. Individuals with HDGC are at an increased lifetime risk for gastric cancer; however, this risk has decreased from initial penetrance estimates and led to changes to management guidelines beginning in 2024. It is unknown how genetic counselors (GCs) have adapted to these changes. Therefore, the purpose of this study was to examine GC perspectives and practice regarding evolving CDH1 gastric cancer risks. One-hundred and fifteen eligible GCs participated in this cross-sectional, quantitative survey and answered questions pertaining to demographics, understanding of risk change, clinical practice, and scenario pedigrees. The majority of participants (92%) were aware of the changes to gastric cancer risk numbers, although specific reported gastric cancer risk numbers varied. Participants demonstrated a shift in clinical practice toward balancing discussion of endoscopic surveillance and prophylactic total gastrectomy and expressed comfort with discussing the nuances and complexity of the implications of the updated risks, and utilized family history to assist in risk assessment in line with current practice. While GCs are knowledgeable about the nuances of CDH1, they acknowledge the significance of referring to CDH1 specialists since final management decisions are beyond GC scope of practice. However, GCs remain well equipped to counsel families about the rationale for shifting cancer risks and the impacts on their surveillance and management options.

Keywords

CDH1, hereditary diffuse gastric cancer, genetic counseling, risk numbers, shift of practice

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