Outcomes of Education and Counseling for HNPCC Testing

National Human Genome Research Institute

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Abstract

The primary goals of this project are to identify factors associated with psychosocial functioning and health behaviors following genetic counseling and testing for a hereditary cancer syndrome known as Hereditary Non-polyposis Colorectal Cancer (HNPCC) - or Lynch Syndrome. Lynch Syndrome is an inherited form of cancer that predisposes persons in affected families to multiple kinds of cancer, most notably colon and endometrial cancer. Biological relatives in families with a known Lynch Syndrome mutation completed a baseline questionnaire assessing knowledge, expectations, mood, attitudes, perceived cancer risk, cancer worries, family relationships, spirituality, coping and health beliefs. Participants were then provided with an educational/counseling session focused on Lynch Syndrome, the availability of genetic testing, its risks, limitations and potential benefits, and cancer screening recommendations for families with Lynch Syndrome. Participants were then presented with a choice of whether or not to undergo genetic testing. Those choosing genetic testing underwent a separate informed consent specifically focused on the process of genetic testing and the potential risks, benefits and limitations of genetic testing. Psychological and behavioral outcomes were reassessed through telephone questionnaire at 6 months, 1 and 3 years following risk notification or the decision not to undergo testing. For those receiving genetic test results, notification occurred in person along with discussion of available surveillance options. Follow-up counseling and support are provided for all individuals participating in the study. 388 individuals completed baseline questionnaires, 346 individuals completed 6- month follow-up questionnaires, 331 completed 1 year questionnaires, and 178 completed 3 year follow-up surveys. We initiated an addendum to the parent project that aims to characterize the family communication and support system and how the structure of this system is associated with decisions to undertake testing and cancer screening practices. Family systems variables were assessed via a brief telephone interview. Additionally, genetically at risk, but non-participating family members and relatives not at risk for inheriting an Lynch Syndrome associated gene mutation will be recruited through their participating relatives, to consider completion of a single, brief questionnaire and the family system interview. The non-participant questionnaire assessed demographic information, attitudes/concerns towards genetic testing, perceived risk of cancer, cancer screening behaviors, and characteristics of family communication about Lynch Syndrome. 100 individuals completed the non-participant survey and 292 completed the family systems interview. The protocol is now closed to new recruitment, however, the study team will continue follow-up of participating families and analyze data for manuscript development. We continue to learn from these data the role of family context in members adaptation to their risk of cancer. During this reporting year, we published two manuscripts detailing differences between those receiving genetic services and those at-risk, but choosing not to receive genetic services, and the association of testing status with screening behavior, psychological wellbeing, and social support.