KNOWLEDGE, ATTITUDES AND PERCEPTION OF FAMILIAL ADENOMATOUS POLYPOSIS INDIVIDUALS TOWARDS GENETIC TESTING: A DESCRIPTIVE QUALITATIVE STUDY

Abstract

Background: The uptake of genetic testing has been low in Singapore despite the introduction of cancer genetic services since 2001. In 2006, 56% of the eligible participants declined to participate in genetic testing even with the provision of government subsidies. However, the population group for these studies were mainly for hereditary breast and ovarian cancer patients. There are limited studies that explored the perception of familial adenomatous polyposis (FAP) individuals towards genetic testing worldwide, and particularly in an Asian setting. Aim: To explore the knowledge, attitudes and perceptions of FAP individuals towards genetic testing. Method: A descriptive qualitative research design was utilised, using semistructured interviews for a purposive sample of 10 FAP participants. Sample size was determined by data saturation. The audiotaped interviews were transcribed verbatim and subjected to content analysis. Results: Five major themes emerged from the findings: (1) experiences of FAP, (2) knowledge of FAP and genetic testing, (3) acceptance of genetic testing, (4) hindrance to genetic testing, and (5) healthcare professionals’ role in genetic testing. Most participants had a positive attitude towards adenomatous polyposis coli (APC) gene testing and pre-implantation genetic diagnosis and would encourage their child to go for genetic testing prior to colonoscopy. There is a general lack of awareness and knowledge among FAP individuals. The main motivators were wanting to test for at-risk family members and the desire to have a child unaffected by FAP. Barriers include fear of knowing test results, financial and ethical considerations. Conclusion and practice implications: APC gene testing can be routinely offered to children from the age of 10 and reproductive genetic testing should be offered to FAP individuals at childbearing age. There is also a need to raise ! ix! awareness and knowledge among FAP individuals. Further research to explore healthcare professionals’ knowledge and attitudes towards genetic testing is recommended.