Risk perception among Brazilian individuals with high risk for colorectal cancer and colonoscopy

<p>Abstract</p> <p>Background</p> <p>Risk perception is considered a motivating factor for adopting preventive behaviors. This study aimed to verify the demographic characteristics and cancer family history that are predictors of risk perception and to verify if risk perception is a predictor of colonoscopy adherence.</p> <p>Methods</p> <p>Individuals with a family colorectal cancer history as indicated by a proband with cancer were interviewed by telephone. They responded to a questionnaire covering demographic characteristics, colonoscopy history and four questions on risk perception. Tests of multiple linear regression and logistic regression were used to identify associations between dependent and independent variables.</p> <p>Results</p> <p>The 117 participants belonged to 62 families and had a mean age of 45.2 years. The majority of these individuals were female (74.4%) and from families who met the Amsterdam Criteria (54.7%). The average risk perception was 47.6%, with a median of 50%. The average population perception of individual risk was 55.4%, with a median of 50%. Variables associated with a higher risk perception were age, gender, religion, school level, income, and death of a family member. The variable predicting colonoscopy was receiving medical information regarding risk (odds ratio OR 8.40).</p> <p>Conclusions</p> <p>We found that family cancer history characteristics (number of relatives with cancer, risk classification) are associated with adequate risk perception. Risk perception does not predict colonoscopy in this sample. The only variable that predicted colonoscopy was receiving medical information recommending screening.</p

Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease

<p>Abstract</p> <p>Background</p> <p>von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the <it>VHL </it>gene. Patients have significant morbidity and mortality secondary to vascular tumors. Disease management is centered on tumor surveillance that allows early detection and treatment. Presymptomatic genetic testing is therefore recommended, including in at-risk children.</p> <p>Methods</p> <p>We tested 17 families (n = 109 individuals) for <it>VHL </it>mutations including 43 children under the age of 18. Personalized genetic counseling was provided pre and post-test and the individuals undergoing presymptomatic testing filled out questionnaires gathering socio-demographic, psychological and psychiatric data. Mutation analysis was performed by direct sequencing of the <it>VHL </it>gene. Mutation-carriers were screened for VHL disease-related tumors and were offered follow-up annual examinations.</p> <p>Results</p> <p>Mutations were identified in 36 patients, 17 of whom were asymptomatic. In the initial screening, we identified at least one tumor in five of 17 previously asymptomatic individuals. At the end of five years, only 38.9% of the mutation-carriers continued participating in our tumor surveillance program. During this time, 14 mutation carriers developed a total of 32 new tumors, three of whom died of complications. Gender, education, income, marital status and religiosity were not found to be associated with adherence to the surveillance protocol. Follow-up adherence was also independent of pre-test depression, severity of disease, or number of affected family members. The only statistically significant predictor of adherence was being symptomatic at the time of testing (OR = 5; 95% CI 1.2 - 20.3; p = 0.02). Pre-test anxiety was more commonly observed in patients that discontinued follow-up (64.7% vs. 35.3%; p = 0.01).</p> <p>Conclusions</p> <p>The high initial uptake rate of genetic testing for VHL disease, including in minors, allowed the discontinuation of unnecessary screening procedures in non mutation-carriers. However, mutation-carriers showed poor adherence to long-term tumor surveillance. Therefore, many of them did not obtain the full benefit of early detection and treatment, which is central to the reduction of morbidity and mortality in VHL disease. Studies designed to improve adherence to vigilance protocols will be necessary to improve treatment and quality of life in patients with hereditary cancer syndromes.</p

Limitations and pitfalls of using family letters to communicate genetic risk: a qualitative study with patients and healthcare professionals

European genetic testing guidelines recommend that healthcare professionals (HCPs) discuss the familial implications of any test with a patient and offer written material to help them share the information with family members. Giving patients these “family letters” to alert any relatives of their risk has become part of standard practice and has gone relatively unquestioned over the years. Communication with at-risk relatives will become an increasingly pressing issue as mainstream and routine practice incorporates broad genome tests and as the number of findings potentially relevant to relatives increases. This study therefore explores problems around the use of family letters to communicate about genetic risk. We conducted 16 focus groups with 80 HCPs, and 35 interviews with patients, recruited from across the UK. Data were analyzed thematically and we constructed four themes: 1) HCPs writing family letters: how to write them and why?, 2) Patients’ issues with handing out family letters, 3) Dissemination becomes an uncontrolled form of communication, and 4) When the relative has the letter, is the patient’s and HCP’s duty discharged? We conclude by suggesting alternative and supplementary methods of communication, for example through digital tools, and propose that in comparison to communication by family letter, direct contact by HCPs might be a more appropriate and successful option

"I am pregnant and my husband has diabetes. Is there a risk for my child?" A qualitative study of questions asked by email about the role of genetic susceptibility to diabetes

<p>Abstract</p> <p>Background</p> <p>Diabetes Mellitus is a global health problem. Scientific knowledge on the genetics of diabetes is expanding and is more and more utilised in clinical practice and primary prevention strategies. Health consumers have become increasingly interested in genetic information. In the Netherlands, the <it>National Genetic Research and Information Center </it>provides online information about the genetics of diabetes and thereby offers website visitors the opportunity to ask a question per email. The current study aims at exploring people's need of (additional) information about the role of inheritance in diabetes. Results may help to tailor existing clinical and public (online) genetic information to the needs of an increasing population at risk for diabetes.</p> <p>Methods</p> <p>A data base with emailed questions about diabetes and inheritance (n = 172) is used in a secondary content analysis. Questions are posted in 2005-2009 via a website providing information about more than 600 inheritable disorders, including all diabetes subtypes. Queries submitted were classified by contents as well as persons' demographic profiles.</p> <p>Results</p> <p>Questions were received by diabetes patients (49%), relatives (30%), and partners (21%). Questioners were relatively young (54.8% ≤ 30 years) and predominantly female (83%). Most queries related to type 1 diabetes and concerned topics related to (future) pregnancy and family planning. Questioners mainly asked for risk estimation, but also clarifying information (about genetics of diabetes in general) and advice (mostly related to family planning) was requested. Preventive advice to reduce own diabetes risk was hardly sought.</p> <p>Conclusions</p> <p>Genetic information on diabetes provided by professionals or public health initiatives should address patients, as well as relatives and partners. In particular women are receptive to genetic information; they worry about the diabetes related health of (future) offspring. It seems important that information on the contribution of genetics to type 1 diabetes is more readily available. Considering the high prevalence of type 2 diabetes with strong evidence for a genetic predisposition, more effort seems needed to promote awareness around familial clustering and primary prevention.</p

A whisper-game perspective on the family communication of DNA-test results: a retrospective study on the communication process of BRCA1/2-test results between proband and relatives

Objective of this paper is to study how DNA-test result information was communicated and perceived within families. A retrospective descriptive study in 13 probands with a BRCA1/2 unclassified variant, 7 with a pathogenic mutation, 5 with an uninformative result, and in 44, 14, and 12 of their 1st and 2nd degree relatives respectively. We examined differences and correlations between: (a) information actually communicated (b) probands' perception, (c) relatives' perception. The perception consisted of recollections and interpretations of both their own and their relatives' cancer-risks, and heredity-likelihood (i.e. likelihood that cancer is heritable in the family). Differences and low correlations suggested few similarities between the actually communicated information, the probands' and the relatives' perception. More specifically, probands recalled the communicated information differently compared with the actually communicated information (R = .40), and reinterpreted this information differently (R = .30). The relatives' perception was best correlated with the proband's interpretation (R = .08), but this perception differed significantly from their proband's perception. Finally, relatives reinterpreted the information they received from their proband differently (R = .25), and this interpretation was only slightly related with the original message communicated by the genetic-counsellor (R = .15). Unclassified-variants were most frequently misinterpreted by probands and relatives, and had the largest differences between probands' and relatives' perceptions. Like in a children's whisper-game, many errors occur in the transmission of DNA-test result information in families. More attention is required for how probands disseminate information to relatives. Genetic-counsellors may help by supporting the probands in communicating to relatives, e.g. by providing clear summary letters for relatives

Family Communication in Inherited Cardiovascular Conditions in Ireland

Over 100,000 individuals living in Ireland carry a mutated gene for an inherited cardiac condition (ICC), most of which demonstrate an autosomal dominant pattern of inheritance. First-degree relatives of individuals with these mutations are at a 50 % risk of being a carrier: disclosing genetic information to family members can be complex. This study explored how families living in Ireland communicate genetic information about ICCs and looked at the challenges of communicating information, factors that may affect communication and what influence this had on family relationships. Face to face interviews were conducted with nine participants using an approved topic guide and results analysed using thematic analysis. The participants disclosed that responsibility to future generations, gender, proximity and lack of contact all played a role in family communication. The media was cited as a source of information about genetic information and knowledge of genetic information tended to have a positive effect on families. Results from this study indicate that individuals are willing to inform family members, particularly when there are children and grandchildren at risk, and different strategies are utilised. Furthermore, understanding of genetics is partially regulated not only by their families, but by the way society handles information. Therefore, genetic health professionals should take into account the familial influence on individuals and their decision to attend genetic services, and also that of the media.postprin