Investigation on the willingness of patients with colonic adenomatous polyposis to receive genetic counseling and genetic testing

Abstract

[Background] Family investigation and genetic counseling are crucial for disease monitoring in patients with colonic adenomatous polyposis. However, this work has not been well-executed in China, primarily due to patient’s lack of understanding of its significance. [Methods] A cross-sectional survey was conducted to investigate the willingness of patients with colonic adenomatous polyposis to undergo genetic counseling and genetic testing. General information and clinical data were collected and analyzed. [Results] A total of 101 questionnaires were sent out and 89 valid questionnaires were collected. The most common reason respondents sought genetic counseling was to learn about cancer risk (43.8%), followed by genetic testing counseling (29.2%) and reproductive counseling (21.3%). A significant 66.3% of respondents had not yet decided on their preferred method of childbirth. Seventy-two respondents (80.9%) had undergone or planned to undergo genetic testing for colonic adenomatous polyposis, with the primary objective of identifying pathogenic genes. Sixty-two respondents (69.7%) already had children, of which 38 respondents had either their children undergo genetic testing or planned to do so, mainly to predict whether their children would develop diseases; The primary factor that led respondents to refuse testing for their children was fear of the results. [Conclusion] Patients with colonic adenomatous polyposis have a limited understanding of genetic counseling and genetic testing. It is necessary and urgent to disseminate relevant knowledge to these patients, which can assist them in obtaining more help in disease assessment, prediction, and family planning, ultimately leading to better outcomes.

Keywords

• colonic adenomatous polyposis
• familial adenomatous polyposis
• genetic counseling
• genetic testing
• cross-sectional survey