Theresa M. Marteau

A measure of informed choice

Objective To develop a measure of informed choice.

Genetic risk and behavioural change

Predictive genetic testing is currently used mainly for untreatable conditions, such as Huntingtons disease, or prenatal detection of serious genetic disorders such as cystic fibrosis. Prenatal tests are usually accompanied by an offer of termination of affected pregnancies. Genes have now been isolated that are associated with potentially preventable diseases such as heart disease and cancer and with increased risk from smoking and obesity. This has raised the possibility of providing predictive information to many more people. Such information may eventually reduce disease by facilitating the development of better targeted and more effective treatment. Informing people of their genetic susceptibility to disease may motivate them to change their behaviour to reduce their risks. However, changing behaviour is often difficult. In this article we review the limited evidence concerning behavioural responses to genetic information on risk. We use this and the literature on behavioural change to consider if and how behaviour might be changed in response to genetic information. #### Summary points Changing behaviour is difficult Behavioural change is most likely in motivated people who participate in effective interventions Providing people with genetic information on risk may not increase their motivation to change behaviour and in some cases may decrease motivation Behavioural change may be more likely if people are persuaded that changing their behaviour can reduce the risk of an adverse health outcome and they are given access to evidence based interventions Further research is needed to evaluate programmes in which genetic risk information is given, including evaluation of different ways of giving information Effective interventions to change behaviour after provision of information on risk need to be developed We searched Medline, PsycINFO, and the Social Science Citation Index using the following terms: health behavior; illness behavior; genetic screening or mass screening; cancer screening, health screening, mammography, or preventive medicine; genetic counselling, genetic …

Judging nudging: can nudging improve population health?

Nudging has captured the imagination of the public, researchers, and policy makers as a way of changing human behaviour, with both the UK and US governments embracing it. Theresa Marteau and colleagues ask whether the concept stands up to scientific scrutiny

Lay Understanding of Familial Risk of Common Chronic Diseases: A Systematic Review and Synthesis of Qualitative Research

PURPOSE Although the family history is increasingly used for genetic risk assessment of common chronic diseases in primary care, evidence suggests that lay understanding about inheritance may conflict with medical models. This study systematically reviewed and synthesized the qualitative literature exploring understanding about familial risk held by persons with a family history of cancer, coronary artery disease, and diabetes mellitus. METHODS Twenty-two qualitative articles were found after a comprehensive literature search and were critically appraised; 11 were included. A meta-ethnographic approach was used to translate the studies across each other, synthesize the translation, and express the synthesis. RESULTS A dynamic process emerged by which a personal sense of vulnerability included some features that mirror the medical factors used to assess risk, such as the number of affected relatives. Other features are more personal, such as experience of a relative’s disease, sudden or premature death, perceived patterns of illness relating to gender or age at death, and comparisons between a person and an affected relative. The developing vulnerability is interpreted using personal mental models, including models of disease causation, inheritance, and fatalism. A person’s sense of vulnerability affects how that person copes with, and attempts to control, any perceived familial risk. CONCLUSIONS Persons with a family history of a common chronic disease develop a personal sense of vulnerability that is informed by the salience of their family history and interpreted within their personal models of disease causation and inheritance. Features that give meaning to familial risk may be perceived differently by patients and professionals. This review identifies key areas for health professionals to explore with patients that may improve the effectiveness of communication about disease risk and management.

Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review

The aims of this systematic literature review are to estimate termination rates after prenatal diagnosis of one of five conditions: Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes, and to determine the extent to which rates vary across conditions and with year of publication. Papers were included if they reported (i) numbers of prenatally diagnosed conditions that were terminated, (ii) at least five cases diagnosed with one of the five specified conditions, and (iii) were published between 1980 and 1998. 20 papers were found which met the inclusion criteria. Termination rates varied across conditions. They were highest following a prenatal diagnosis of Down syndrome (92 per cent; CI: 91 per cent to 93 per cent) and lowest following diagnosis of Klinefelter syndrome (58 per cent; CI: 50 per cent to 66 per cent). Where comparisons could be made, termination rates were similar in the 1990s to those reported in the 1980s. Copyright

The new genetics: Psychological responses to genetic testing

This is the second of four articles discussing the broader implications of advances in genetics Predicting disease on the basis of biological markers, such as serum cholesterol concentration or blood pressure, is not new; the ability to predict disease using DNA is. As the scope for genetic testing extends beyond testing for single gene disorders to testing large sections of the population for genes associated with common disorders it is important to consider what effect this will have on individuals and on society as a whole. Research into the psychological impact of genetic testing in Huntingtons disease, cystic fibrosis, breast cancer, and ovarian cancer has shown that an individuals decision to undergo testing and his or her response on receiving the results are influenced by many factors. This article discusses the nature of these factors and the implication they have for the introduction of widespread genetic screening. #### Summary points As genetic screening becomes widespread, its psychological impact on individuals, their families, and society as a whole needs to be assessed The psychological impact of predictive genetic testing for Huntingtons disease, breast cancer, and ovarian cancer, when offered with expert counselling before and after testing, depends more on pretest expectations, mood, and social support than the results of the test itself Distress associated with screening may be reduced by careful assessment before and after testing, counselling, and support Research is needed to determine the most effective and practical counselling strategies for the increasingly large number of people who will be offered genetic tests for treatable conditions The psychological impact of screening for biological markers associated with increased risk of disease has been well researched.1 Extrapolating from these findings to predict the impact of population based genetic screening of asymptomatic individuals is difficult, though—partly because the predictive value of genetic tests for some …

Consensus Development Methods: A Review of Best Practice in Creating Clinical Guidelines

Background: Although there is debate about the appropriate place of guidelines in clinical practice, guidelines can be seen as one way of assisting clinicians in decision-making. Given the likely diversity of opinion that any group of people may display when considering a topic, methods are needed for organising subjective judgements. Three principal methods (Delphi, nominal group technique, consensus development conference) exist which share the common objective of synthesising judgements when a state of uncertainty exists. Objectives: To identify the factors that shape and influence the clinical guidelines that emerge from consensus development methods and to make recommendations about best practice in the use of such methods. Methods: Five electronic databases were searched: Medline (1966-1996), PsychLIT (1974-1996), Social Science Citation Index (1990-1996), ABI Inform and Sociofile. From the searches and reference lists of articles a total of 177 empirical and review articles were selected for review. Results: The output from consensus development methods may be affected by: the way the task is set (choice of cues, recognition of contextual cues, the focus of the task, the comprehensiveness of the scenarios); the selection of participants (choice of individuals, degree of homogeneity of the group, their background, their number); the selection and presentation of scientific information (format, extent to which its quality and content is assessed); the way any interaction is structured (number of rating rounds, ensuring equitable participation, physical environment for meetings); and the method of synthesising individual judgements (definition of agreement, rules governing outliers, method of mathematical aggregation). Conclusions: Although a considerable amount of research has been carried out, many aspects have not been investigated sufficiently. For the time being at least, advice on those aspects has, therefore, to be based on the users own commonsense and the experience of those who have used or participated in these methods. Even in the long term, some aspects will not be amenable to scientific study. Meanwhile, adherence to best practice will enhance the validity, reliability and impact of the clinical guidelines produced.

Using financial incentives to achieve healthy behaviour

Paying people to change their behaviour can work, at least in the short term. However, as Theresa Marteau, Richard Ashcroft, and Adam Oliver explain, there are many unanswered questions about this approach

Psychological impact of human papillomavirus testing in women with borderline or mildly dyskaryotic cervical smear test results: cross sectional questionnaire study

Abstract Objective To describe the psychological impact on women of being tested for human papillomavirus (HPV) when smear test results are borderline or mildly dyskaryotic. Design Cross sectional questionnaire study. Setting Two centres participating in an English pilot study of HPV testing in women with borderline or mildly dyskaryotic smear test results. Participants Women receiving borderline or mildly dyskaryotic smear test results tested for HPV and found to be HPV positive (n = 536) or HPV negative (n = 331); and women not tested for HPV with borderline or mildly dyskaryotic smear results (n = 143) or normal smear results (n = 366). Main outcome measures State anxiety, distress, and concern about test result, assessed within four weeks of receipt of results. Results Women with borderline or mildly dyskaryotic smear results who were HPV positive were more anxious, distressed, and concerned than the other three groups. Three variables independently predicted anxiety in HPV positive women: younger age (β = −0.11, P = 0.03), higher perceived risk of cervical cancer (β = 0.17, P < 0.001), and reporting that they did not understand the meaning of test results (β = 0.17, P = 0.001). Testing HPV negative was not reassuring: among women with abnormal smear test results, those who were HPV negative were no less anxious than those who were not tested for HPV. Conclusions Informing women more effectively about the meaning of borderline or mildly dyskaryotic smear test results and HPV status, in particular about the absolute risks of cervical cancer and the prevalence of HPV infection, may avoid some anxiety for those who are HPV positive while achieving some reassurance for those who test HPV negative.

The multi-dimensional measure of informed choice: a validation study

The aim of this prospective study is to assess the reliability and validity of a multi-dimensional measure of informed choice (MMIC). Participants were 225 pregnant women in two general hospitals in the UK, women receiving low-risk results following serum screening for Down syndrome. The MMIC was administered before testing and the Ottawa Decisional Conflict Scale was administered 6 weeks later. The component scales of the MMIC, knowledge and attitude, were internally consistent (alpha values of 0.68 and 0.78, respectively). Those who made a choice categorised as informed using the MMIC rated their decision 6 weeks later as being more informed, better supported and of higher quality than women whose choice was categorised as uninformed. This provides evidence of predictive validity, whilst the lack of association between the MMIC and anxiety shows construct (discriminant) validity. Thus, the MMIC has been shown to be psychometrically robust in pregnant women offered the choice to undergo prenatal screening for Down syndrome and receiving a low-risk result. Replication of this finding in other groups, facing other decisions, with other outcomes, should be assessed in future research.