Communication, encouragement, and cancer screening in families with and without mutations for hereditary nonpolyposis colorectal cancer: A pilot study

Abstract

Purpose: Known and suspected mutation carriers for hereditary nonpolyposis colorectal cancer are advised to have colonoscopies every 1 to 2 years to detect colorectal cancer. Little is known about colonoscopy completion in families suspected of having hereditary nonpolyposis colorectal cancer but without identified mutations. Methods: This study examined the effect of communication and encouragement on colonoscopy in families with and without known mutations. Twenty-three respondents from 11 families with indeterminate genetic test results were matched with 23 respondents from 11 families with mutationpositive results. Hierarchical modeling examined the effects of relational characteristics on time since last colonoscopy in index cases and their first-degree relatives. Results: Nearly one fifth of respondents were not screening appropriately. Time since last screening did not differ according to family mutation status. However, respondents who communicated about risk and received encouragement to screen from a greater proportion of named family members, and those who had a greater proportion of named family members involved in both communication and encouragement were significantly more likely to have a shorter time interval since last colonoscopy. Conclusion: Identifying patterns of interaction within at-risk families, regardless of gene mutation status, may be one avenue for promoting screening adherence. Genet Med 2009:11(10):728 -734. Key Words: hereditary nonpolyposis colorectal cancer, cancer screening, communication, encouragement, indeterminate genetic test results Hereditary nonpolyposis colorectal cancer (HNPCC) is an inherited cancer susceptibility syndrome predisposing affected individuals to increased risks for colorectal cancer (CRC) as well as endometrial, ovarian, small intestine, and other cancers. Risk for HNPCC is evaluated based on clinical presentation, pathologic criteria, and family history. 1,2 Mutations in mismatch repair (MMR) genes are associated with HNPCC. Individuals carrying a MMR gene mutation have estimated lifetime risks of developing CRC as high as 69% in men and 52% in women. [3][4][5] Advances in mutation detection have dramatically improved during the last decade, with the identification of mutations within MMR genes associated with HNPCC improving from 50% 6 to estimates as high as 84%. 7 Even with this significant improvement in detecting disease-causing mutations, a proportion of individuals suspected of having HNPCC will receive indeterminate results. Indeterminate results occur when no mutation is present, current technology does not detect the mutation, or a mutation is present in a gene not yet known to be associated with HNPCC. 6 Failure to find a mutation in an index case does not eliminate the possibility of HNPCC nor does it decrease the associated cancer risks.Colonoscopy screening in individuals at risk for HNPCC prevents CRC and reduces associated deaths. Precancerous polyps associated with HNPCC develop earlier in life and progress more quickly to malignancy. ...

Psychiatric implications of cancer genetic testing

“…95 Positive family relationships also predicted increased adherence to recommended screening. 96 Specifically, greater family involvement, communication about risk, and encouragement were associated with a significantly shorter time since last colonoscopy. 96 …”

“…96 Specifically, greater family involvement, communication about risk, and encouragement were associated with a significantly shorter time since last colonoscopy. 96 …”

The Behavioral Response to Personalized Genetic Information: Will Genetic Risk Profiles Motivate Individuals and Families to Choose More Healthful Behaviors?

“…Results have highlighted the interpersonal and interdependent nature of responses to genomic information. For example, recent work has indicated that adherence to cancer screening recommendations is associated with the extent to which shared cancer risk is discussed with relatives and, in turn, encouragement to screen is received from relatives (40,50).…”

“…Recent work with families affected by hereditary colon cancer has identified a familyencourager communication model: that is, individuals who encourage many family members to seek cancer screening tend to screen themselves; family members who are encouraged by the family encourager also tend to engage in more appropriate screening behaviors (43,50). However, to our knowledge, there is no ongoing research to explore whether these kinship-based processes are taking place with respect to common diseases.…”

Patient compliance based on genetic medicine: a literature review

“…Overall, there were no differences between the groups in the year before receiving test results; however, after receiving test results patients with an inconclusive test were significantly less likely to have endoscopy than mutation-positive patients. Ersig et al (2009b) emphasized that not only mutation status but also familial relationships play an important role. These authors found that time since last screening did not differ according to family mutation status.…”