Susanne F. Meisel

Psychological responses to genetic testing for weight gain: a vignette study.

Genetic testing for obesity risk is increasingly available to the public but few studies have examined motivational or affective reactions. Here we report findings from a “vignette” study investigating reactions to “higher‐risk” and “average‐risk” results for the obesity‐related FTO gene in two groups: a panel sample of individuals with weight concerns, for whom testing may have treatment implications (n = 306, mean age = 45 years, mean BMI = 35) and a student sample (n = 395, mean age = 25 years, mean BMI = 23), for whom testing would have implications for obesity prevention. Participants were given FTO gene information that described higher‐risk alleles as linked with modest weight gain and slightly higher risk of obesity. They responded to both higher‐ and average‐risk vignettes, with order randomized. Interest in genetic testing was high overall, and higher in panel respondents than students (93% vs. 78% would “probably” or “definitely” have the test; P < 0.001). In students, a higher‐risk result generated higher motivation to change (d = 0.15; P < 0.001), but also slightly higher negative affect (d = 0.03, P < 0.001) and fatalism (d = 0.05, P < 0.001) than an average‐risk result. Panel respondents also had higher motivation to change (d = 0.17, P < 0.001) as well as relief about having an explanation for their body weight (d = 0.02, P = 0.013) in the higher‐risk condition, but no increase in fatalism or depression. These results suggest that at the level of anticipated responses to FTO gene feedback, higher‐risk results had positive motivational effects with minimal changes in negative affect or fatalism. Genetic testing has the potential to be a useful clinical or preventive tool when combined with appropriate information.

Explaining, not just predicting, drives interest in personal genomics

BackgroundThere is a widespread assumption that risk prediction is the major driver of customer interest in personal genomic testing (PGT). However, some customers may also be motivated by finding out whether their existing diseases have a genetic etiology. We evaluated the impact of an existing medical diagnosis on customer interest in condition-specific results from PGT.MethodsUsing a prospective online survey of PGT customers, we measured customer interest prior to receiving PGT results for 11 health conditions, and examined the association between interest and personal medical history of these conditions using logistic regression.ResultsWe analyzed data from 1,538 PGT customers, mean age 48.7 years, 61 % women, 90 % White, and 47 % college educated. The proportion of customers who were ‘very interested’ in condition-specific PGT varied considerably, from 28 % for ulcerative colitis to 68% for heart disease. After adjusting for demographic and personal characteristics including family history, having a diagnosis of the condition itself was significantly associated with interest in genetic testing for risk of that condition, with odds ratios ranging from 2.07 (95 % CI 1.28-3.37) for diabetes to 19.99 (95 % CI 4.57-87.35) for multiple sclerosis.ConclusionsPGT customers are particularly interested in genetic markers for their existing medical conditions, suggesting that the value of genetic testing is not only predictive, but also explanatory.

Genetic susceptibility testing and readiness to control weight: Results from a randomized controlled trial

To test the hypothesis that adding obesity gene feedback (FTO) to simple weight control advice at a life stage with raised risk of weight gain (university) increases readiness to control weight.

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.

Survey of public definitions of the term ‘overdiagnosis’ in the UK

Objectives To determine how ‘overdiagnosis’ is currently conceptualised among adults in the 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 aimed 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 and equal numbers of men and women. 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 (ie, ‘too many tests’), treatment (eg, ‘overtreatment’) and patient psychology (eg, ‘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.

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.

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.

Common methods of measuring ‘informed choice’ in screening participation: Challenges and future directions

There is general agreement among public health practitioners, academics, and policymakers that people offered health screening tests should be able to make informed choices about whether to accept. Robust measures are necessary in order to gauge the extent to which informed choice is achieved in practice and whether efforts to improve it have succeeded. This review aims to add to the literature on how to improve methods of measuring informed choice. We discuss and critique commonly-used approaches and outline possible alternative methods that might address the issues identified. We explore the challenges of defining what information should be provided about screening and hence understood by service users, appraise the use of ‘thresholds’ to define e.g. positive attitudes towards screening, and describe problems inherent in conceptualising ‘informed choice’ as a single dichotomous outcome that either does or does not occur. Suggestions for future research include providing greater detail on why particular aspects of screening information were considered important, analysing knowledge and attitude measures at an ordinal or continuous level (avoiding problematic decisions about dichotomising data in order to set thresholds), and reconceptualising informed choice as a multifactorial set of outcomes, rather than a unitary one.

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. Among UK websites, 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 was less common 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.

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

BackgroundGenetic 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.Methods/designFirst-year university students (n = 800) will be randomized to receive either 1) their personal genetic test result for a gene (FTO) related to weight gain susceptibility in addition to a leaflet with simple weight control advice (‘Feedback + Advice’ group, FA), or 2) only the leaflet containing simple weight control advice (‘Advice Only’ group, AO).Motivation to avoid weight gain and active use of weight control strategies will be assessed one month after receipt of the leaflet with or without genetic test feedback. Weight and body fat will be measured at baseline and eight months follow-up. We will also assess short-term psychological reactions to the genetic test result. In addition, we will explore interactions between feedback condition and gene test status.DiscussionWe hope to provide a first indication of the clinical utility of weight-related genetic test feedback in the prevention context.Trial registrationCurrent controlled trials ISRCTN91178663