Experiences of individuals living with hereditary non-polyposis colorectal cancer (HNPCC) in families with an exon 8 deletion mutation : a modified grounded theory study

Fiander, Jacqueline J. (2010) Experiences of individuals living with hereditary non-polyposis colorectal cancer (HNPCC) in families with an exon 8 deletion mutation : a modified grounded theory study. Masters thesis, Memorial University of Newfoundland.

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Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant condition that predisposes individuals to colon and other cancers. Genetic testing is available to families with known mutations. Limited insight exists on situational and contextual factors influencing genetic testing, as well as the reaction to and acceptance of one's results. An original qualitative study used grounded theory methodological to explore the meaning of genetic testing for HNPCC, to develop a greater understanding of the psychosocial and behavioural impact for carriers and non-carriers, and to identify relevant information to facilitate the provision of counseling programs for both individuals and families. A substantive theory, C Confronting and Accepting the Challenges of Living in Families with Genetic Linked Diseases, emerged from the data analysis. This theory is defined by three major thematic categories - living in families with a strong history of cancer, becoming aware of genetic testing and living the process, and struggling to adjust. -- Most of the participants in the original study were from families with the intron 5 splice site of the MSH2 gene. These individuals had participated in genetic testing eight to ten years prior to being interviewed. With the identification of an additional MSH2 mutation, exon 8 deletion, family members were now available to be interviewed closer to the time of genetic testing. A modified grounded theory study was subsequently conducted with these individuals by this researcher. The purpose of the current study was to augment the conceptualizations leading to the substantive theory generated in the original study. -- The findings indicated that the genetic testing event was viewed narrowly in comparison to the larger life context. The importance of lay inheritance beliefs became integral to shaping the meaning of genetic testing. Family experiential knowledge emerged as a major factor in shaping risk perceptions and emotional readiness. The impact of these experiences requires careful assessment before genetic testing. Pre-test genetic counseling enhanced cognitive processing of results, but unexpected emotional reactions occurred in relation to extensiveness of familial cancer, beliefs about inheritance, coping abilities, and family communication. Attention needs to be given to the impact of subjective feeling states on the testing process. The psycho-emotional impact of knowing one's HNPCC status can impede successful coping long-term. Being open to and having family support emerged as being significant. Timing and sites of recommended cancer screening were variable amongst physicians, suggesting the value of accurate timely information flow. For carriers reaching the affected stage, access to health care becomes increasingly significant. -- In conclusion, clinicians and families need to think longitudinally about the course of HNPCC illness with normative landmark transitions and constantly changing demands to help individuals achieve a sense of resilience and maintain an optimal quality of life. Nurses are poised to prioritize, coordinate, and provide psychological and emotional support to HNPCC families.

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