Disease-related knowledge and attitudes among familial adenomatous polyposis kindreds.

Abstract

423 Background: Familial Adenomatous Polyposis (FAP) is a highly penetrant autosomal dominant disorder, for which patients and their first degree relatives (FDRs) should receive genetic counseling in addition to regular endoscopic and clinical screening. Previous studies indicate under-use of screening and preventive care among FAP families but the reasons are not well understood. Our objective was to identify potential areas of need for information and support among FAP kindreds from a single center registry. Methods: FAP patients and FDRs were solicited to participate in a survey on health and information needs. Multiple attempts were made to reach potential respondents. Sixty-one patients were solicited and 40 surveys were collected (Response Rate = 61%). Survey respondents also recruited 10 additional FDRs. Participants (N=50) could choose to complete their survey online, by telephone, or on paper. Descriptive analyses were conducted using SPSS. Results: The average age of respondents was 50.2 years, 62% (n=31) were female; and 70% (n=35) had FAP. Among the responses to knowledge questions, half of respondents (n=25) stated that children who do not inherit FAP from their parents can still pass on the disease to their own children. In addition, only 62% (n=31) answered correctly that children of an affected FAP parent have a 50% risk of the disease ; nearly a quarter (n=12; 24%) said they did not know. Respondents also reported FAP-specific needs, including worries and concerns about children developing FAP (19% rated this as moderate or high), fears about developing cancer (33%), uncertainty about the impact of FAP (38%), dealing with the impact of FAP on the family (34%), obtaining medical information about FAP (37%), and understanding information relevant to FAP (31%). Conclusions: The data in this single center survey suggest that substantial knowledge gaps exist within FAP kindreds, both in affecteds and also FDRs. In particular, there was incomplete understanding regarding the heritable risks and also disease specific risks for children. These data indicate that members of FAP kindreds have unmet needs regarding their disease and risk, and want information that can help them manage their disease.