Genetic test feedback for risk of weight gain – motivational and behavioural effects

The value of genetic test feedback for common conditions is widely debated. This is principally because of the lack of impact on behaviour change of feedback for genes with small effect sizes, but also because of concern about the risks of fatalistic responses to positive test results or false reassurance from negative results. This thesis describes research using feedback for one gene, FTO, implicated in the development of obesity, as a model to investigate motivational and emotional reactions to testing for genetic susceptibility. It comprises a series of six studies examining the benefits and harms associated with genetic test feedback. They incorporated a mixture of qualitative and quantitative methodologies, used hypothetical and real genetic feedback, and tested predominantly normal-weight students and overweight/and obese individuals from a web panel. Fatalism or false reassurance in response to FTO genetic test feedback was not observed in any of the studies. Genetic test feedback was consistently perceived as motivating, and negative emotional effects of a higher-risk FTO gene result were minimal. Overweight and obese individuals found the test result helpful for alleviating guilt and stigma; although in response to an unexpected lower-risk genetic test result, some were disappointed. University is notoriously a life stage with risk of weight gain but not all students gain weight. One study examined associations between genetic risk status and weight gain, and found that students with at least one higher-risk allele were more likely to gain weight. The final study was a randomised controlled trial examining the effect of giving FTO feedback alongside simple weight control advice to first year students. Short-term (one month) results showed that weight control intentions were significantly higher in those randomised to receive FTO feedback and weight control advice than weight control advice alone, but there was no effect on weight or reported behaviour change. Although the studies in this thesis had many limitations, the findings indicate that people are unlikely to misinterpret or overstate the impact of genetic test results, at least in the context of a single gene implicated in a multifactorial condition. However, effects on behaviour remained elusive. This indicates the need for future research to learn how to harness the potential of genetic information to promote personalised prevention

Intentions to Prevent Weight Gain in Older and Younger Adults; The Importance of Perceived Health and Appearance Consequences

Objectives: This study investigates whether health and appearance consequences predict intentions to prevent weight gain and whether these relationships differ in younger versus older adults and in men versus women. Methods: UK adults aged 18-26 years (younger adults; n = 584) or > 45 years (older adults; n = 107) participated in an online survey. Logistic regression assessed associations between intentions to avoid gaining weight and age, gender as well as perceived negative consequences of weight gain for health and appearance. Co-variates were ethnicity, education, weight perception and perceived weight gain vulnerability. Interactions between age, gender and perceived health and appearance consequences of weight gain were also tested. Results: Perceived negative appearance consequences of weight gain predicted weight gain prevention intentions (OR = 9.3, p 0.01). Conclusion: Concerns about feeling unattractive predict intentions to prevent weight gain. However, health consequences of weight gain are only important motivators for older adults. Future research should identify ways to shift the focus of young people from appearance concerns towards the health benefits of maintaining a healthy weight

Adjusting the frequency of mammography screening on the basis of genetic risk: Attitudes among women in the UK.

Purpose To explore public attitudes towards modifying frequency of mammography screening based on genetic risk. Methods Home-based interviews were carried out with a population-based sample of 942 women aged 18–74 years in the UK. Demographic characteristics and perceived breast cancer (BC) risk were examined as predictors of support for risk-stratified BC screening and of the acceptability of raised or lowered screening frequency based on genetic risk, using multivariate logistic regression. Results Over two-thirds of respondents (65.8%) supported the idea of varying screening frequency on the basis of genetic risk. The majority (85.4%) were willing to have more frequent breast screening if they were found to be at higher risk, but fewer (58.8%) were willing to have less frequent screening if at lower risk (t (956) = 15.6, p < 0.001). Ethnic minority status was associated with less acceptability of more frequent screening (OR = 0.40, 95% CI = 0.21–0.74), but there were no other significant demographic correlates. Higher perceived risk of BC was associated with greater acceptability of more frequent screening (OR = 1.71, 95%CI = 1.27–2.30). Conclusion Women were positive about adjusting the frequency of mammography screening in line with personal genetic risk, but it will be important to develop effective communication materials to minimise resistance to reducing screening frequency for those at lower genetic risk

Survey of public definitions of the term 'overdiagnosis' in the UK

Objectives: To determine how ‘overdiagnosis’ is currently conceptualised among adults in the United Kingdom (UK) in light of previous research, which has found that the term is difficult for the public to understand and awareness is low. This study aims to add to current debates on healthcare in which overdiagnosis is a prominent issue. Design: An observational, web-based survey was administered by a survey company. Setting: Participants completed the survey at a time and location of their choosing. Participants: 390 consenting UK adults aged 50-70 years. Quota sampling was used to achieve approximately equal numbers in three categories of education. Primary outcome measures: Participants were asked whether they had seen or heard the term ‘overdiagnosis’. If they had, they were then invited to explain in a free text field what they understood it to mean. If they had not previously encountered it, they were invited to say what they thought it meant. Responses were coded and interpreted using content analysis and descriptive statistics. Results: Data from 390 participants were analysed. Almost a third (30.0%) of participants reported having previously encountered the term. However, their responses often indicated that they had no knowledge of its meaning. The most prevalent theme consisted of responses related to the diagnosis itself. Subthemes indicated common misconceptions, including an ‘overly negative or complicated diagnosis’, ‘false positive diagnosis’ or ‘misdiagnosis’. Other recurring themes consisted of responses related to testing (i.e. ‘too many tests’), treatment (e.g. ‘overtreatment’), and patient psychology (e.g. ’overthinking’). Responses categorised as consistent with ‘overdiagnosis’ (defined as detection of a disease that would not cause symptoms or death) were notably rare (n=10; 2.6%). Conclusions: Consistent with previous research, public awareness of ‘overdiagnosis’ in the UK is low and its meaning is often misunderstood or misinterpreted

Clinician-reported barriers to implementing breast cancer chemoprevention in the UK: A qualitative investigation

Aims: The use of tamoxifen and raloxifene as preventive therapy for women at increased risk of breast cancer was approved by the National Institute for Health and Care Excellence (NICE) in 2013. We undertook a qualitative investigation to investigate the factors affecting the implementation of preventive therapy within the UK. Methods: We recruited general practitioners (GPs) (n = 10) and clinicians working in family history or clinical genetics settings (FHCG clinicians) (n = 15) to participate in semi-structured interviews. Data were coded thematically within the Consolidated Framework for Implementation Research. Results: FHCG clinicians focussed on the perceived lack of benefit of preventive therapy and difficulties interpreting the NICE guidelines. FHCG clinicians felt poorly informed about preventive therapy, and this discouraged patient discussions on the topic. GPs were unfamiliar with the concept of preventive therapy, and were not aware that they may be asked to prescribe it for high-risk women. GPs were reluctant to initiate therapy because it is not licensed, but were willing to continue a prescription if it had been started in secondary or tertiary care. Conclusions: Barriers to implementing preventive therapy within routine clinical practice are common and could be addressed by engaging all stakeholders during the development of policy documents

Population-based, risk-stratified genetic testing for ovarian cancer risk: a focus group study

Study Purpose: A population-based risk stratification programme for ovarian cancer (OC) may improve OC survival by identifying women at increased risk and implementing an appropriate risk management strategy. The present study explored attitudes towards an OC risk stratification programme incorporating predictive genetic testing and risk-stratified screening as part of a larger study investigating OC screening. Methods: Focus groups consisting of 56 members of the general public (mean age 45 years; 34% non-white) were conducted using a hypothetical scenario. The group sessions were recorded, transcribed verbatim and analysed using Framework Analysis. Results: There was strong support for the proposed programme. Genetic testing and risk-stratified screening was thought to raise awareness, offer reassurance and offer opportunities for early intervention. Anxiety was only mentioned in relation to receiving a diagnosis of OC and not with screening per se. Perhaps because lay models of cancer already embrace both environmental and genetic factors, a low-risk result was not anticipated to result in a false sense of immunity. Unexpectedly, participants also wanted to receive cancer prevention advice in conjunction with genetic testing; screening alone was not regarded as sufficient. Conclusion: The encouraging results from this small study warrant further large-scale research into risk-stratified OC screening

Information on 'overdiagnosis' in breast cancer screening on prominent United Kingdom- and Australia-oriented health websites

Objectives: Health-related websites are an important source of information for the public. Increasing public awareness of overdiagnosis and ductal carcinoma in situ (DCIS) in breast cancer screening may facilitate more informed decision-making. This study assessed the extent to which such information was included on prominent health websites oriented towards the general public, and evaluated how it was explained. Design: Cross-sectional study. Setting: Websites identified through Google searches in England (United Kingdom) and New South Wales (Australia) for “breast cancer screening” and further websites included based on our prior knowledge of relevant organisations. Main outcomes: Content analysis was used to determine whether information on overdiagnosis or DCIS existed on each site, how the concepts were described, and what statistics were used to quantify overdiagnosis. Results: After exclusions, ten UK websites and eight Australian websites were considered relevant and evaluated. They originated from charities, health service providers, government agencies, and an independent health organisation. Most contained some information on overdiagnosis (and/or DCIS). Descriptive information was similar across websites. In the UK sample, statistical information was often based on estimates from the Independent UK Panel on Breast Cancer Screening; the most commonly provided statistic was the ratio of breast cancer deaths prevented to overdiagnosed cases (1:3). A range of other statistics was included, such as the yearly number of overdiagnosed cases and the proportion of women screened who would be overdiagnosed. Information on DCIS and statistical information were found less commonly on the Australian websites. Conclusions: Online information about overdiagnosis has become more widely available in 2015-16 compared with the limited accessibility indicated by older research. However, there may be scope to offer more information on DCIS and overdiagnosis statistics on Australian websites. Moreover, the variability in how estimates are presented across UK websites may be confusing for the general public

Applied Interventions in the Prevention and Treatment of Obesity Through the Research of Professor Jane Wardle

Purpose of Review Obesity presents a challenge for practitioners, policy makers, researchers and for those with obesity themselves. This review focuses on psychological approaches to its management and prevention in children and adults. Recent Findings Through exploring the work of the late Professor Jane Wardle, we look at the earliest behavioural treatment approaches and how psychological theory has been used to develop more contemporary approaches, for example incorporating genetic feedback and habit formation theory into interventions. We also explore how Jane has challenged thinking about the causal pathways of obesity in relation to eating behaviour. Beyond academic work, Jane was an advocate of developing interventions which had real-world applications. Summary Therefore, we discuss how she not only developed new interventions but also made these widely available and the charity that she established

Genetic test feedback with weight control advice: study protocol for a randomized controlled trial

Genetic testing for risk of weight gain is already available over the internet despite uncertain benefits and concerns about adverse emotional or behavioral effects. Few studies have assessed the effect of adding genetic test feedback to weight control advice, even though one of the proposed applications of genetic testing is to stimulate preventive action. This study will investigate the motivational effect of adding genetic test feedback to simple weight control advice in a situation where weight gain is relatively common

Population-based genetic risk prediction and stratification for ovarian cancer: views from women at high risk

There is an opportunity to improve outcomes for ovarian cancer (OC) through advances in risk stratification, early detection and diagnosis. A population-based OC genetic risk prediction and stratification program is being developed. A previous focus group study with individuals from the general population showed support for the proposed program. This qualitative interview study explores the attitudes of women at high risk of OC. Eight women participated in one-on-one, in-depth, semi-structured interviews to explore: experiences of learning of OC risk, risk perceptions, OC knowledge and awareness, and opinions on risk stratification approach. There was evidence of strong support for the proposed program. Benefits were seen as providing reassurance to women at low risk, and reducing worry in women at high risk through appropriate clinical management. Stratification into ‘low’ and ‘high’ risk groups was well-received. Participants were more hesitant about stratification to the ‘intermediate’ risk group. The data suggest formats to effectively communicate OC risk estimates will require careful thought. Interactions with GPs were highlighted as a barrier to OC risk assessment and diagnosis. These results are encouraging for the possible introduction and uptake of a risk prediction and stratification program for OC in the general population