Design and Feasibility of an Intervention to Support Cancer Genetic Counselees in Informing their At-Risk Relatives

Cancer genetic counselees receive individualized information regarding heightened risks and medical recommendations which is also relevant for their at-risk relatives. Unfortunately, counselees often insufficiently inform these relatives. We designed an intervention aimed at improving counselees' knowledge regarding which at-risk relatives to inform and what information to disclose, their motivation to disclose, and their self-efficacy. The intervention, offered by telephone by trained psychosocial workers, is based on the principles of Motivational Interviewing. Phase 1 of the intervention covers agenda setting, exploration, and evaluation, and phase 2 includes information provision, enhancing motivation and self-efficacy, and brainstorming for solutions to disseminate information within the family. Fidelity and acceptability of the intervention were assessed using recordings of intervention sessions and by counselee self-report. A total of 144 counselees participated. Psychosocial workers (n = 5) delivered the intervention largely as intended. Counselees highly appreciated the content of the intervention and the psychosocial workers who delivered the intervention. In the sessions, psychosocial workers provided additional and/or corrective information, and brainstorming for solutions was performed in 70 %. These results indicate that this intervention is feasible and warrants testing in clinical practice. For this, a randomized controlled trial is currently in progress to test the intervention's efficacy

Patients’ Perceptions and Experiences of Familial Hypercholesterolemia, Cascade Genetic Screening and Treatment

Background: Familial hypercholesterolemia (FH) is a serious genetic disorder affecting approximately 1 in every 300 to 500 individuals and is characterised by excessively high low-density lipoprotein (LDL) cholesterol levels, substantially increased risk of early-onset coronary heart disease (CHD) and premature mortality. If FH is untreated, it leads to a greater than 50 % risk of CHD in men by the age of 50 and at least 30 % in women by the age of 60. FH can be diagnosed through genetic screening and effectively managed through pharmacological treatment and lifestyle changes. Purpose: Familial hypercholesterolemia (FH) is a genetic health condition that increases the risk of cardiovascular disease. Although FH can be effectively managed with appropriate pharmacological and dietary interventions, FH detection rate through genetic screening remains low. The present study explored perceptions and experiences of FH patients (N = 18) involved in a genetic cascade screening programme. Methods: Face-to-face interviews were conducted to assess patients’ knowledge and understanding of FH, explore factors linked to adherence to health-protective behaviours and examine perceptions of genetic screening. Results: Thematic analysis of interviews revealed four themes: disease knowledge, severity of FH, lifestyle behavioural change and barriers to cascade screening and treatment. Participants recognised FH as a permanent, genetic condition that increased their risk of CHD and premature mortality. Many participants dismissed the seriousness of FH and the importance of lifestyle changes because they perceived it to be effectively managed through medication. Despite positive attitudes toward screening, many participants reported that relatives were reluctant to attend screening due to their relatives’ ‘fatalistic’ outlook or low motivation. Participants believed that they had insufficient authority or control to persuade family members to attend screening and welcomed greater hospital assistance for contact with relatives. Conclusions: Findings support the adoption of direct methods of recruitment to cascade screening led by medical professionals, who were perceived as having greater authority. Other implications included the need for clinicians to provide clear information, particularly to those who are asymptomatic, related to the seriousness of FH and the necessity for adherence to medication and lifestyle changes

Educating the general public about multifactorial genetic disease: applying a theory-based framework to understand current public knowledge.

The present article describes the application of a theory-based framework to understand current public knowledge of genetic risk factors of multifactorial diseases. The main innovative aspect is the application of E. M. Rogers' knowledge framework which distinguishes three types of knowledge: "awareness knowledge," "how-to knowledge," and "principles knowledge." We argue that distinguishing these types of knowledge allows for a more sophisticated overview of the general public. To illustrate the application of Rogers' framework, we performed a literature review of current public knowledge of genetic risk factors of multifactorial genetic diseases. Relevant articles were identified by searching the Pubmed, Web of Science, Embase, CINAHL, ERIC, and PsycINFO databases from January 1990 until January 2007 and by performing reference list and author searches. Although this review showed that current public knowledge is limited, it also showed that the knowledge framework may be a useful tool for assessing different types of public knowledge and pinpointing flaws or caveats in public knowledge with more precision and subsequently develop public health campaigns to remedy such flaws. Implications for genetic education are discusse

A qualitative study exploring genetic counsellors' experiences of counselling children

The identification of healthy carriers by newborn screening programmes raises questions about how and when the carrier results will be conveyed to child. There is currently a lack of information concerning how best to convey carrier information to children. This is a serious gap in the literature and practice. This study examined genetic counsellors' experiences of counselling children to explore how to support and inform children about their carrier result. Practising members of the United Kingdom (UK) Association of Genetic Nurses and Counsellors took part in semi-structured telephone interviews. Respondents described the communication process and identified barriers and facilitators of communication. Age, illness experience and maturity were variously discussed as facilitators; all of which are integral to psychological theories of children's understanding of illness. Adaptive family communication, school tuition and educational materials were also seen as influencing counselling efficacy. Relevant materials that children could keep were also seen as important to enhance children's autonomy. Yet, such resources were rare, constituting a barrier to communication. Counsellors reported communication was further impeded by maladaptive family communication and resistance from children to engaging in counselling. By exploring the facilitators and barriers inherent in communicating genetic information to children, guidance can be offered to counsellors, researchers and parents. This study indicates that some factors (eg illness experiences) previously identified by psychological theories may act in complex ways within this setting. Importantly, the factors identified as being most influential when communicating with children about genetics are amenable to change through interventions, support and training