Myriam Welkenhuysen

Risk communication strategies: state of the art and effectiveness in the context of cancer genetic services.

The objective of this paper is first to describe the different strategies used to communicate risks to patients in the field of cancer or genetics, to review their effectiveness, and to summarise the state of the art of this practice in particular, in cancer genetics. The target audience is health care professionals involved in the communication of cancer risks, and genetic risks of breast/ovarian or colorectal cancer in particular. The methods include a review of the literature (Medline, Pascal, PsycInfo, Embase) by a panel of researchers and clinicians (cancer geneticists, epidemiologists, health psychologists, sociologists) in the context of a European Project on risk communication. We highlight practices that have been shown to be effective in the context of health psychology research and those being still under consideration for use in routine practice. In conclusion, this paper adds clinical relevance to the research evidence. We propose specific steps that could be integrated in standard clinical practice based on current evidence for their usefulness/effectiveness.

Unrealistic optimism and genetic risk

Abstract The occurrence of unrealistic optimism with regard to a genetic risk situation was investigated within a group of female adults (study 1) and a group of adolescents (study 2). In both studies, the indirect method of measurement elicited a significant optimistic bias. Contrary to Weinstein (1982, 1987) we found no relation between the direct or indirect measures of unrealistic optimism and personal experience with the risk, perceived frequency of occurrence or perceived preventability of the risk. Trait-Anxiety was significantly related to the extent of unrealistic optimism, but only when the direct measure was used. Together with the fact that the indirect measure resulted in a much stronger bias than the direct one, this suggests that there exists an important difference between both measures. Further research on the measurement of unrealistic optimism and on its determinants in specific risk situations is needed.

A stigmatizing effect of the carrier status for cystic fibrosis

The emotional impact of carrier detection for CF was assessed in a group of adults tested before 1992. Of the 200 adults who received a mailed questionnaire, 70% participated. One third were CF gene carriers. The Health Orientation Scale (HOS) was used to evaluate perceived feelings about three situations: (a) How would you describe your feelings about yourself when you consider your test result? (b) How do you think most people feel when they are told that they carry the CF gene? (c) How do you think most people feel when they are told that they do not carry the CF gene? Comparing the profiles of CF carriers and non‐carriers, we found that carriers had significantly less positive feelings about themselves than non‐carriers. Carriers as well as non‐carriers attribute significantly more negative feelings to most carriers of the CF gene than to most non‐carriers. Moreover, carriers of the Cf gene attribute more negative feelings to other CF carriers than to themselves. Analysis of variance revealed a significant effect of carrier status on self‐description, as well as a significant effect of carrier status and degree of kinship with a CF patient on feelings attributed to most carriers. Although these results suggest some danger of stigmatization of CF carriers, the cognitive bias of ‘illusory superiority’ seems to counterbalance some of its effects.

Predictive testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling

Since the identification of two breast–ovarian cancer susceptibility genes (BRCA1/2), predictive testing for hereditary breast/ovarian cancer (HBOC) has been available. Given the complexity and uncertainties of HBOC and the potential impact of predictive testing on psychological well-being, we offer the test applicants a combination of information-oriented and psychological counselling. In this paper, we describe the multidisciplinary approach for predictive testing for HBOC as a clinical service in Leuven, hereby focusing on psychological and decision counselling practice. Attention is paid to the theoretical framework used for pre-test psychological counselling in Leuven. We discuss three important interacting dimensions of psychological counselling: individual emotional support, decision counselling and support of the family communication process. Decision counselling consists of an evaluation of the cognitive and the emotional processing of the information given and strategies and resources for coping. This serves as a starting point to facilitate free informed decision making. Scenario development is used as a decision aid.

A community based study on intentions regarding predictive testing for hereditary breast cancer

Editor—The recent developments in human genetics have led to the availability of predictive DNA tests for the hereditary subgroups of some cancers. During the past five years, genetic testing for mutations in the BRCA1 1 and BRCA2 genes,2 predisposing to hereditary breast/ovarian cancer (HBOC), has entered clinical practice. Several genetic centres/hospitals offer predictive testing for HBOC to women with a family history of the disease. Women who carry a HBOC mutation might decide on regular breast screening to increase the chances of early detection of the disease. Alternatively, they might opt for prophylactic surgery to reduce their breast/ovarian cancer risk as much as possible. In addition to the uncertainties involved in these management options, the ambiguity because of the incomplete and variable penetrance of the BRCA1/BRCA2 mutations has to be dealt with as well3-5; recent estimations of the cumulative breast cancer risk for female BRCA1/BRCA2 mutation carriers vary between 50% and 85%. Alternatively, the absence of a BRCA1/BRCA2 mutation in affected family members does not eliminate the risk of developing breast cancer. It merely reduces the risk to the risk level in the general population, which is about 10% in the industrialised world.6 7Despite these uncertainties, the high frequency of breast cancer in the population may trigger questions about and interest in the predictive test for breast cancer. Also, media attention may play an important role by creating high hopes,8 as well as an increased awareness or misconceptions of the personal and population risk for breast cancer.9 10 Commercial companies may try to encourage testing for BRCA1/BRCA2 mutations by selling tests directly to physicians and/or the public.11 On the other hand, public concern, pessimism, or fear about the new genetic technology12 may discourage interest in applications like predictive genetic testing …

The CF carrier status is not associated with a diminished self-concept or increased anxiety: results of psychometric testing after at least 1 year

To evaluate whether the CF carrier status has any lasting effect on anxiety and on self‐concept at least 1 year after the disclosure of the test result, an in‐depth interview and additional psychological tests were administered in a group of adults who participated in a previous study which suggested a slight stigmatizing effect of the CF carrier status. Besides carrier status, the role of a second factor — degree of relationship — was investigated. Analysis of Variance (MANOVA or ANOVA) revealed no effect on state and trait anxiety (STAI) and almost no effect on the six subscales of the Tennessee Self‐Concept Scale. The absence of a lasting negative effect of the CF carrier status on anxiety and self‐concept is a very important finding. Nevertheless, an intriguing significant interaction effect was found: the group of sibs carrying the CF gene felt less integrated in the family than the group of non‐carrier sibs. This effect of carrier status was not found in the more distant relatives. It is important to pay sufficient attention to this problem during genetic counseling when brothers or sisters of a CF patient receive a test result.

Cancer genetics service provision: a comparison of seven European centres.

Objective: To conduct a survey in seven European cancer genetics centres to compare service provision, organisation and practices for familial breast and colon cancer consultations and testing. Information was obtained on aspects of services both nationally and locally. Methods: A detailed survey questionnaire was adapted collaboratively to obtain the required information. Initial survey data were collected within each centre and interim results were discussed at two European Workshops. Where differences in practice existed, details were clarified to ensure accuracy and adequacy of information. Participating centres were Haifa (Israel), Hannover (Germany), Leiden (The Netherlands), Leuven (Belgium), Manchester (UK), Marseille (France) and Milan (Italy), representing countries with populations ranging from 6.5 to 80 million. Results: The European countries diverged in regard to the number of cancer genetics centres nationally (from 8 in Belgium to 37 in France), and the average population served by each centre (from 0.59 million in Israel to 3.32 million in Italy). All centres offered free care at the point of access, but referral to specialist care varied according to national health care provision. At a centre level, staff roles varied due to differences in training and health care provision. The annual number of counsellees seen in each participating centre ranged from 200 to over 1,700. Access to breast surveillance or bowel screening varied between countries, again reflecting differences in medical care pathways. These countries converged in regard to the wide availability of professional bodies and published guidelines promoting aspects of service provision. Similarities between centres included provision of a multidisciplinary team, with access to psychological support, albeit with varying degrees of integration. All services were dominated (70–90%) by referrals from families with an increased risk of breast cancer despite wide variation in referral patterns. Collection of pedigree data and risk assessment strategies were broadly similar, and centres used comparable genetic testing protocols. Average consultation times ranged between 45 and 90 min. All centres had access to a laboratory offering DNA testing for breast and bowel cancer-predisposing genes, although testing rates varied, reflecting the stage of service development and the type of population. Israel offered the highest number of genetic tests for breast cancer susceptibility because of the existence of specific founder mutations, in part explaining why the cancer genetics service in Haifa differed most from the other six. Conclusion: Despite considerable differences in service organisation, there were broad similarities in the provision of cancer genetic services in the centres surveyed.

Adolescents opinions about genetic risk information, prenatal-diagnosis, and pregnancy termination

Advances in genetics create increasing possibilities of diagnosing and preventing genetic disease. In most countries, the community is poorly informed about the role of genetic factors in human disease and about genetic testing and its social, emotional, and ethical implications. School education about genetics may improve this situation. Students are, of course, the adults of the future and the potential users of the new genetic tests. To gain further insight into the perception of genetic risk of adolescents and their perception of the new genetic techniques and as a starting point for setting up an adequate information campaign in Flanders, we assessed the opinions and beliefs of students with regard to health, genetic diseases, genetic risk, and genetic testing. A standardised interview and questionnaire were administered within the scope of the two yearly medical check up of 166 fifth grade students. They were randomly selected from the group of all fifth grade high school students in seven different schools. This paper focuses on the attitudes of adolescents towards obtaining genetic information, towards prenatal diagnosis and pregnancy termination. Adolescents in Flanders are interested in being informed about genetic risks and genetic diseases and in making use of prenatal diagnosis because they want to make informed reproductive decisions in the future and to be emotionally prepared for the birth of an affected child. They adopt a critical attitude towards pregnancy termination. The association between these attitudes and several relevant factors was investigated. This showed significant correlations between some attitudes and general health related prevention, perceived burden of genetic diseases, the importance of the value “own health”, the perceived role of society, and the regularity of religious practice. Some points for special attention were formulated with regard to information campaigns for adolescents.

Uptake and Impact of Carrier Testing for Cystic Fibrosis

The first aim of the paper is to review research into the uptake of carrier testing for cystic fibrosis and into the impact of carrier testing on self-esteem, risk perception and reproductive decisions. The second aim is to connect the most important findings to psychological theories and concepts. Thirdly, we infer practical suggestions for genetic counselling. The uptake of genetic testing for CF could be explained by at least three (complementary) interrelated psychological concepts: the (lack of) genetic information, the individual’s health beliefs and the concept of coping with a health threat. Cognitive and/or emotional coping mechanisms played also an important role in preserving self-esteem after a positive carrier test and in the subjective evaluation of the residual risk after a negative test result. Suggestions are given regarding genetic counselling in general and regarding free informed decision making.

Adolescents' attitude towards carrier testing for cystic fibrosis and its relative stability over time

Attitudes towards cystic fibrosis (CF) carrier testing, benefits of and barriers to having such a test were assessed within a randomly selected group of high school students in Flanders, after they had received sufficient basic information about the nature and the mode of inheritance of CF. Attitudes towards carrier testing for CF were not negative, but the majority preferred to wait to have a test. This result changed little after 6 months. A hypothetical testing offer from the Medical School Health Service elicited positive answers from nearly two thirds, suggesting that such an offer may function as a cue to action. Nevertheless, the appropriateness of such an offer may be questioned, considering the disadvantages of testing adolescents. Concern about a negative impact of the carrier status on self-image was reported by 10% of the students. These findings suggest that education about genetics is not only a prerequisite for allowing more informed decisions about CF carrier testing, but also for avoiding negative psychosocial effects of such a test.