Danielle R.M. Timmermans

Presenting quantitative information about decision outcomes: a risk communication primer for patient decision aid developers

BackgroundMaking evidence-based decisions often requires comparison of two or more options. Research-based evidence may exist which quantifies how likely the outcomes are for each option. Understanding these numeric estimates improves patients’ risk perception and leads to better informed decision making. This paper summarises current “best practices” in communication of evidence-based numeric outcomes for developers of patient decision aids (PtDAs) and other health communication tools.MethodAn expert consensus group of fourteen researchers from North America, Europe, and Australasia identified eleven main issues in risk communication. Two experts for each issue wrote a “state of the art” summary of best evidence, drawing on the PtDA, health, psychological, and broader scientific literature. In addition, commonly used terms were defined and a set of guiding principles and key messages derived from the results.ResultsThe eleven key components of risk communication were: 1) Presenting the chance an event will occur; 2) Presenting changes in numeric outcomes; 3) Outcome estimates for test and screening decisions; 4) Numeric estimates in context and with evaluative labels; 5) Conveying uncertainty; 6) Visual formats; 7) Tailoring estimates; 8) Formats for understanding outcomes over time; 9) Narrative methods for conveying the chance of an event; 10) Important skills for understanding numerical estimates; and 11) Interactive web-based formats. Guiding principles from the evidence summaries advise that risk communication formats should reflect the task required of the user, should always define a relevant reference class (i.e., denominator) over time, should aim to use a consistent format throughout documents, should avoid “1 in x” formats and variable denominators, consider the magnitude of numbers used and the possibility of format bias, and should take into account the numeracy and graph literacy of the audience.ConclusionA substantial and rapidly expanding evidence base exists for risk communication. Developers of tools to facilitate evidence-based decision making should apply these principles to improve the quality of risk communication in practice.

Are pregnant women making informed choices about prenatal screening

Purpose: Prenatal screening should enable pregnant women to make informed choices. An informed decision is defined as being based on sufficient, relevant information and consistent with the decision makers values. This study aims to assess to what extent pregnant women make informed choices about prenatal screening, and to assess the psychological effects of informed decision-making.Methods: The study sample consisted of 1159 pregnant women who were offered the nuchal translucency measurement or the maternal serum screening test. Level of knowledge, value consistency, informed choice, decisional conflict, satisfaction with decision, and anxiety were measured using questionnaires.Results: Of the participants, 83% were classified as having sufficient knowledge about prenatal screening, 82% made a value-consistent decision to accept or decline prenatal screening, and 68% made an informed decision. Informed choice was associated with more satisfaction with the decision, less decisional conflict (this applied only to test acceptors), but was not associated with less anxiety.Conclusion: Although the rate of informed choice is relatively high, substantial percentages of women making uninformed choices due to insufficient knowledge, value inconsistency, or both, were found. Informed choice appeared to be psychologically beneficial. The present study underlines the importance of achieving informed choice in the context of prenatal screening.

Public Experiences, Knowledge and Expectations about Medical Genetics and the Use of Genetic Information

Objective: The objectives of this study were (1) to explore public experiences, genetic knowledge, expectations of future medical genetic developments, and the attitudes towards the use of genetic information, and (2) to determine whether there are subject characteristics associated with these variables. Methods: Participants (n = 1,308, age ≧25 years) of a Dutch consumer panel were sent a questionnaire, specifically designed for this study. Results: Response was 63% (817/1,308). A minority of respondents reported to know someone with a hereditary disease (34%) or to have used a genetic test (8%). Overall, 57% perceived a lack of genetic knowledge. In multivariate analyses, high self-rated knowledge, younger age, having heard of genetic testing, high educational level, female gender, having children living at home, being a health professional, and familiarity with genetic testing were positively associated with genetic knowledge. Future expectations of the consequences of developments in medical genetics varied between the subjects. The great majority expected great benefits for medical practice such as an increasing use of genetic aspects of disease for diagnosis or prevention. One fifth, mainly older people, anticipated a negative impact of genetic developments on society. The results also show that most people are reserved to share their genetic information with others, especially with regard to the wider public domain (e.g. industry and insurers) and employers. Remarkably, respondents were more willing to share their genetic information with scientific researchers (68%) than with their relatives (54%). Conclusion: This study suggests that although one fifth anticipates negative consequences of genetic developments, the great majority has high expectations about the increasing use of genetics in prevention, diagnosis and treatment of diseases. In developing educational programmes about genetic innovations in medicine, policymakers will have to take into account pre-existing lay knowledge, views and expectations of different groups of citizens towards these developments.

Ideals of patient autonomy in clinical decision making: a study on the development of a scale to assess patients’ and physicians’ views

Objectives: Evidence based patient choice seems based on a strong liberal individualist interpretation of patient autonomy; however, not all patients are in favour of such an interpretation. The authors wished to assess whether ideals of autonomy in clinical practice are more in accordance with alternative concepts of autonomy from the ethics literature. This paper describes the development of a questionnaire to assess such concepts of autonomy. Methods: A questionnaire, based on six moral concepts from the ethics literature, was sent to aneurysm patients and their surgeons. The structure of the questionnaire was assessed by factor analysis, and item reduction was based on reliability. Results: Ninety six patients and 58 surgeons participated. The questionnaire consisted of four scales. Two of the scales reflected the paternalistic and consumerist poles of the liberal individualist model, one scale reflected concepts of Socratic autonomy and of procedural independence, and the fourth scale reflected ideals of risk disclosure. Discussion: The Ideal Patient Autonomy Scale is a 14 item normative instrument. It is clearly distinct from the generally used psychological preference questionnaires that assess preferences for physician-patient roles.

Patient record review of the incidence, consequences, and causes of diagnostic adverse events

BACKGROUND Diagnostic errors often result in patient harm. Previous studies have shown that there is large variability in results in different medical specialties. The present study explored diagnostic adverse events (DAEs) across all medical specialties to determine their incidence and to gain insight into their causes and consequences by comparing them with other AE types. METHODS A structured review study of 7926 patient records was conducted. Randomly selected records were reviewed by trained physicians in 21 hospitals across the Netherlands. The method used in this study was based on the well-known protocol developed by the Harvard Medical Practice Study. All AEs with diagnostic error as the main category were selected for analysis and were compared with other AE types. RESULTS Diagnostic AEs occurred in 0.4% of hospital admissions and represented 6.4% of all AEs. Of the DAEs, 83.3% were judged to be preventable. Human failure was identified as the main cause (96.3%), although organizational- and patient-related factors also contributed (25.0% and 30.0%, respectively). The consequences of DAEs were more severe (higher mortality rate) than for other AEs (29.1% vs 7.4%). CONCLUSIONS Diagnostic AEs represent an important error type, and the consequences of DAEs are severe. The causes of DAEs were mostly human, with the main causes being knowledge-based mistakes and information transfer problems. Prevention strategies should focus on training physicians and on the organization of knowledge and information transfer.

Clinical Characteristics Affect the Impact of an Uninformative DNA Test Result: The Course of Worry and Distress Experienced by Women Who Apply for Genetic Testing for Breast Cancer

PURPOSE DNA mutation testing for breast cancer usually yields an uninformative result, which is a negative result in the absence of a known BRCA mutation within the family. However, few data are available on the psychological impact of this result. Moreover, the clinical heterogeneity within this group has not yet been considered. This study provides prospective data about the course of cancer-specific worry and distress for different groups of test applicants. PATIENTS AND METHODS All DNA test applicants (n = 238) completed three questionnaires: before and 1 and 7 months after disclosure of a DNA mutation test. With repeated-measures analysis of variance, differences were assessed between BRCA1/2-positive women (n = 42), BRCA1/2-true-negative women (n = 43), and women with an uninformative test result (n = 153). RESULTS On the group level, women with an uninformative result seemed to be reassured after disclosure (P < .001), but to a lesser extent than those women who received a true-negative result. However, not all women with an uninformative result reacted similarly: higher levels of worry and distress could be explained by relatively straightforward clinical variables, namely a personal history of cancer (P < or = .001) and a higher pedigree-based risk (P < or = .005). Furthermore, these clinical variables determined whether these women were either comparable to women who received a true-negative result or to BRCA mutation carriers. CONCLUSION Women with an uninformative result form a heterogeneous group of test applicants. The subpopulation of those with both a personal history of cancer and a relatively high pedigree-based risk expressed the highest levels of worry 7 months after DNA testing.

Using family history information to promote healthy lifestyles and prevent diseases; a discussion of the evidence.

BackgroundA family history, reflecting genetic susceptibility as well as shared environmental and behavioral factors, is an important risk factor for common chronic multifactorial diseases such as cardiovascular diseases, type 2 diabetes and many cancers.DiscussionThe purpose of the present paper is to discuss the evidence for the use of family history as a tool for primary prevention of common chronic diseases, in particular for tailored interventions aimed at promoting healthy lifestyles. The following questions are addressed: (1) What is the value of family history information as a determinant of personal disease risk?; (2)How can family history information be used to motivate at-risk individuals to adopt and maintain healthy lifestyles in order to prevent disease?; and (3) What additional studies are needed to assess the potential value of family history information as a tool to promote a healthy lifestyle?SummaryIn addition to risk assessment, family history information can be used to personalize health messages, which are potentially more effective in promoting healthy lifestyles than standardized health messages. More research is needed on the evidence for the effectiveness of such a tool.

Genetic counselling and the intention to undergo prophylactic mastectomy: effects of a breast cancer risk assessment

Scientific reports suggest that women at risk for familial breast cancer may benefit from prophylactic mastectomy. However, few data are available about how women decide upon this clinical option, and in particular, what role an objective risk assessment plays in this. The purpose of the present study is to assess whether this objective risk information provided in genetic counselling affects the intention for prophylactic mastectomy. Additionally, the (mediating) effects of breast cancer worry and perceived risk are investigated. A total of 241 women completed a questionnaire before and after receiving information about their familial lifetime breast cancer risk in a genetic counselling session. Path analysis showed that the objective risk information had a corrective effect on perceived risk (β=0.38; P=0.0001), whereas the amount of breast cancer worry was not influenced by the counselling session. The objective risk information did not directly affect the intention for prophylactic mastectomy. The intention was influenced by perceived risk after counselling (β=0.23; P=0.002), and by the precounselling levels of perceived risk (β=0.27; P=0.00025) and breast cancer worry (β=0.32; P=0.0001), that is, higher levels of perceived risk and breast cancer worry imply a stronger intention for prophylactic mastectomy. A personal history of breast cancer did not directly influence the intention for prophylactic mastectomy, but affected women who had undergone a mastectomy as surgical treatment were more positively inclined to have a prophylactic mastectomy than women who had had breast-conserving therapy. The impact of objective risk information on the intention for prophylactic mastectomy is limited and is mediated by perceived risk. Important determinants of the intention for prophylactic mastectomy were precounselling levels of breast cancer worry and perceived risk, suggesting that genetic counselling is only one event in the entire process of decision making. Therefore, interventions aimed at improving decision making on prophylactic mastectomy should explicitly address precounselling factors, such as personal beliefs and the psychological impact of the family medical history.

Perceived risk and representations of cardiovascular disease and preventive behaviour in people diagnosed with familial hypercholesterolemia a cross-sectional questionnaire study

Perceived risk and representations of cardiovascular disease (CVD), and preventive behaviour of people diagnosed with Familial Hypercholesterolemia by DNA testing (N = 81) were assessed. In general, participants perceived their own CVD risk as being relatively low. While participants reported almost optimal medication adherence (99%), only 49 per cent reported following recommendations concerning diet and physical activity. Family history of CVD was associated with both risk perception and the adoption of a healthy lifestyle. In their communications with FH-screened positives, health professionals should be aware that people may underestimate CVD risk, and should stress how behaviour change can reduce the risk.

What do women really want to know? Motives for attending familial breast cancer clinics

Genetic counselling is a highly specialised service in medical care. The service is expensive and its task is comprehensive, including “starting a communication process which deals with the human problems associated with the risk of occurrence of a genetic disorder in a family”.1 For a breast cancer service, this process is an attempt to assist the counsellee in understanding the medical facts, the mode of inheritance, the risk of getting breast and/or ovarian cancer (again), and the implications for daily life. Options for dealing with the risk are discussed and counsellees, depending on their own cumulative risk of getting breast cancer, are presented with a choice of surveillance of their breasts, DNA testing, or prophylactic mastectomy, either with or without oophorectomy. An ever increasing number of women from breast cancer families visit familial cancer clinics for genetic counselling. Because of the comprehensive task of genetic counselling and the increasing numbers of appointments, it is important that the geneticist optimally and efficiently recognises the informational needs that are essential to the counsellee.2 For the counsellee, it is important that she should receive all the information to make a conscious choice. One possible approach is to assess the specific motives for women to attend a familial breast cancer clinic. In this respect, different sets of motives may require different sets of information. Several studies have examined individual motives for attending familial breast cancer clinics and much insight has been gleaned into the most common ones.3–9 Motives often encountered for attending these clinics included: “to find out my risk”, “knowledge of my family history”, “to find out the risk to other family members”, “to reduce my worry”, “to find out about genetic testing”, and “to get information about preventive methods”. Some of these studies3,4,10 simply focused …