1. Results from a survey of UK patients at risk of bowel cancer, their experiences and information preferences.
Selina Goodman, Heather Skirton, Ray Jones
Plymouth University, Plymouth PL4 8AA UK
Introduction
Individuals at increased risk of familial bowel cancer are advised to have regular colonoscopy and to discuss the implications of their diagnosis with relatives. However, only a minority of relatives access screening or genetic testing (Sharaf et al 2013).  This can be due to lack of information provided about the risks (Chivers Seymour et al 2010) and/or failure of effective communication within families.  We are investigating the information preferences of people at risk of bowel cancer and asking for their experiences of the information provided to them at their diagnosis. The aim of this study was to find out if information was provided in an electronic format, with more tailored content, could improve sharing of information (and subsequent uptake of bowel surveillance) amongst at risk relatives. This study is in process and so we present the preliminary results of the survey below.
Methods
Using a cross-sectional survey design, a questionnaire is currently being administered in a paper copy format or online via the link: Participants are eligible if they: have been advised to have regular colonoscopy on the basis of family history or are from a family with an increased risk of bowel cancer. Some may have had bowel cancer. We are recruiting patients via charity websites, clinical genetics, endoscopy clinics and colorectal clinics. Full NHS ethical  approval has been obtained.
Results
To date the majority (n=84, 80%) of the 105 responses have been from women.  Almost half of respondents (n= 51, 49%) have had a cancer diagnosis, mainly affecting the bowel (n= 45, 43%). The vast majority (n=98, 93%) reported that the familial mutation was known and therefore a genetic test was available in the family. Respondents were drawn from many parts of the UK and ranged in age from 20 to 74 years old, with a diverse spread of education and qualifications.
Most people were informed of the familial risk by a health professional (n= 72, 69%) commonly by a genetic specialists(n=49, 65%) and the majority felt well supported at that time (n=52, 76% ). Those informed of the familial risk by a relative were most often told by their mother (n=19, 35%).
However 80% of the respondents indicated that they would like to receive more information through other sources (n=78, 80%).
When participants searched for further information themselves, internet websites (n=57, 56% ) were the most popular sources of information.
When asked about difficulties in sharing information about genetic risk within the family, some relatives were reported as being unwilling to talk about the issue, while others had lost contact or were not on good terms. 66 (63%)  respondents had suggestions for how their health professional could help them more, including ensuring all health professionals had a better knowledge  of the condition and treated them as individuals. Further information required from health professionals included risks of cancer, options for screening and preventive measures.  Some reported having to fight for screening.
Information in other ways?
Discussion
While providing additional information may not directly assist all situations in which sharing of information amongst relatives is restricted, it is clear that participants feel there is a need to improve the knowledge of health professionals outside genetics and to provide a more comprehensive range of information for families at risk of familial bowel cancer.   
Our results indicate that a pragmatic approach may be needed to help relatives share information. Using current technology, there is the opportunity to provide information in a format that requires little personal interaction, and could be accessed by relatives in their own time and at their own pace, which may be particularly helpful to those who are finding it difficult to deal with the information about their familial diagnosis.
Building on these data, telephone interviews of a purposive sample of respondents will guide development of a website. We propose to use and evaluate digital technology to enhance support to patients and facilitate information sharing within families. These results may be applicable to genetic conditions beyond cancer.
References:
Sharaf, R.N., et al., Uptake of Genetic Testing by Relatives of Lynch Syndrome Probands: A Systematic Review. Clinical Gastroenterology and Hepatology, (9): p
Chivers Seymour, K., et al., What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-synthesis of primary qualitative research. Journal of genetic counselling, (4): p
Any correspondence please contact
Selina Goodman, PhD student & Registered Genetic Counsellor
Project partly funded by a grant awarded by Bowel Cancer West.
No conflict of interests to declare.