Claire Julian-Reynier

Determinants of Patients’ Choice of Reconstruction with Mastectomy for Primary Breast Cancer

Background: The aim of the study was to measure women’s decisions about breast reconstruction (BR) after mastectomy and to assess the factors contributing to their decisions, in a context involving shared decision-making and maximum patient autonomy.Methods: Women who were about to undergo mastectomy for primary breast cancer were systematically offered choices concerning BR and time of reconstruction (intervention always covered by the French National Insurance System). Self-administered questionnaires were used prior to the operation.Results: Among the 181 respondents, 81% opted for BR and 19% for mastectomy alone. In comparison with those who chose mastectomy alone, those opting for BR more frequently recognized the importance of discussing these matters with the surgeon and their partner (adjusted odds ratio [ORadj] = 13.45 and 3.59, respectively; P < .05) and realized that their body image was important (ORadj = 10.55, P < .01); fears about surgery prevented some of the women from opting for BR (ORadj = 0.688, P < .05). Among the women opting for BR, 83% chose immediate breast reconstruction (IBR) and 17% chose delayed breast reconstruction (DBR). The preference for IBR was mainly attributable to the fact that these women had benefited more frequently from doctor–patient discussions (ORadj = 3.49, P < .05) but was also attributable to the patients’ physical and functional characteristics: they were in a poorer state of health (P < .05). The surgeons predicted their patients’ preferences fairly accurately.Conclusions: In a context of maximum autonomy, the great majority of the women chose IBR. The patients’ choices were explained mainly by their psychosocial characteristics. The indication for BR should be properly discussed between patients and surgeons before mastectomy.

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.

Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1

Western health care systems are facing today increasing movement of genetic knowledge from research labs into clinical practice. This paper reports the results of a survey that addressed the confidence of primary care physicians in their ability to carry out basic medical genetic tasks. The survey was conducted in five countries (France, Germany, The Netherlands, Sweden and the UK). Stratified random samples were drawn from primary care physicians in the five countries representing a sampling frame of 139,579 physicians. Stepwise binary logistic regression procedures were performed to identify the predictor variables for self-reported confidence. Three thousand six hundred eighty-six physicians participated and filled out a self-administered questionnaire. The margin of error for accurate representation of each group of European general practitioners and specialists in the total sample is 2.9% for GP, 2.8% for obstetricians/gynaecologists (OB/GYN) and for paediatricians (PAED) 2.6% (95% confidence level). Confidence in their ability to carry out basic medical genetic tasks is low among participating primary care physicians: 44.2% are not confident, 36.5% somewhat confident, confident or very confident are 19.3%. In each country, those confident/very confident represent less than 33% of the participating physicians. Primary care physicians who report the lowest levels of confidence prove to be those least exposed to medical genetics information and training. Although there are significant differences in the way in which professional education is organised and practice is regulated across European countries, there is a need for a coordinated European effort to improve primary care physicians’ background in medical genetics.

Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany.

In this review, the national guidelines and recommendations for genetic testing for familial/hereditary breast cancer from the UK, France, the Netherlands and Germany were evaluated as to the inclusion criteria for genetic testing. In all four countries, access to genetic testing relies basically on the family history of breast and ovarian cancer. Similarities are obvious for most selection criteria. All four guidelines recommend embedding genetic testing within a framework of genetic counselling, and all agree to perform genetic testing first in an affected person. However, there are differences regarding the thresholds based on certain familial constellations, detailed description of selection criteria, the degree of relatedness between affected individuals and the counsellee, the age of diagnosis, the individual history of early onset breast cancer, bilateral breast cancer, the tumour morphology or the access to intensified surveillance. These differences and open questions not covered by the guidelines, e.g. on how to deal with phenocopies, unclassified variants, genetic variants in newly identified breast cancer susceptibility genes or with family constellations not fitting the criteria, are discussed. New evidence is usually slowly integrated into the guidelines. An exchange process towards the harmonization of the guidelines will ensure high quality health care across Europe.

Prevention and genetic testing for breast cancer: variations in medical decisions

The discovery linking the genes BRCA1&2 to familial breast cancer played an important role in the clinical practice of geneticists and physicians. The availability of genetic tests for BRCA gene mutations prompted cancer geneticists to give information about genetic risk and to assess many women with a personal or family history of breast or ovarian cancer to inform them of preventive measures. These consist mainly of breast self-examination, mammography screening, chemoprevention and prophylactic surgery (mastectomy, oophorectomy). This paper examines clinical practices related to hereditary breast cancer testing and introduces a number of results from a survey carried out, between 1996 and 1998, in three clinics located in Montreal (Quebec, Canada), Marseilles (France) and Manchester (Great Britain). Results show substantial differences in the way cancer geneticists deal with environmental risk factors, breast and ovarian cancer testing, and chemoprevention and prophylactic surgery. Differences across cities persist in the multivariate analysis, suggesting that attitudes towards preventive measures may be partially explained by cultural factors. Different dimensions of culture are discussed including the social representation of health and risk, the interpretation of scientific evidence and the role of innovation leadership.

Women's perceptions and experience of adjuvant tamoxifen therapy account for their adherence: breast cancer patients' point of view

Objective: The aim of this study on primary breast cancer patients undergoing adjuvant tamoxifen treatment was to determine how their perceptions of the treatment and their experience of side‐effects contributed to their adherence to the treatment.

Uptake of hereditary breast/ovarian cancer genetic testing in a French national sample of BRCA1 families

Due to the technical difficulties involved in identifying BRCA1/2 genetic mutations, the affected patients have to be investigated before testing can be made available to all the relatives at risk.

Genetic education and nongenetic health professionals: Educational providers and curricula in Europe.

Purpose: Advances in and diffusion of genetic technology mean that nongeneticist health professionals have an increasing need to develop and maintain genetic competencies. This has been recognized by patient support groups and the European Commission. As the first phase of the GenEd (Genetic Education for Nongenetic Health Professionals) project, we investigated health professional education at undergraduate, postgraduate, and continuing levels in terms of genetic content and delivery.Methods: Information was collected in the five GenEd partner countries (France, Germany, Netherlands, Sweden, and the UK) by reviewing published curricula and web sites and by directly contacting educational and regulatory organizations. Information was also requested from a further six South and East European collaborators (Greece, Hungary, Italy, Lithuania, Poland, and Spain).Results: Health professional education and training differed in structure with wide variation in the content and duration of genetic education provided. France and Germany have national undergraduate medical curricula but with minimal overt genetic content, mainly confined to basic science courses. In Sweden, Netherlands, and the UK, the content is largely at the discretion of individual universities. Evidence from the UK, France, and Germany indicates that genetic professionals are influencing the genetic content of medical curricula. In postgraduate training, some specialist regulators have adopted specific genetic educational requirements, but many programs lack any explicit genetics. Within each country many organizations have responsibility for setting, assessing, and delivering medical and midwifery education.Conclusions: Due to the multiplicity of organizations involved in the provision of genetic education, changing professional education is likely to be challenging. However, it may be that development of a multiprofessional consensus across Europe is achievable. The strategy adopted by the US National Coalition for Health Professional Education in Genetics may be helpful.

Testing participation in BRCA1/2-positive families: initiator role of index cases.

The objectives of this study were to: (1) describe diffusion of information by affected women in whom a mutation has been identified (index cases) to their families and testing participation among high-risk relatives; (2) assess information recall and understanding by index cases and their satisfaction with the testing process; and (3) determine the factors associated with higher/lower testing decision in the family. Thirty index cases completed a self-administered questionnaire assessing their personal and family characteristics and their satisfaction with their own genetic testing process and a telephone interview to evaluate their knowledge about the risk of a genetic predisposition to breast and ovarian cancer, the type and number of close relatives that they informed, and the difficulties that they encountered. Information about breast/ovarian cancer risk and test availability was generally well transmitted (75%), predominantly (88%) to first-degree relatives. In contrast, testing participation was low (15%) and essentially occurred among sisters and daughters. There was a general lack of knowledge despite a high level of satisfaction regarding the information given by the geneticist. Family support and the knowledge of index cases about the risk of transmission of BRCA1/2 mutations by women were found to be positively and significantly associated with the testing decision among first-degree relatives. Difficulties in informing relatives appeared to be related to poor understanding of the information by index cases, as well as fear, and avoidance among close relatives. A major challenge for genetic counseling is to ensure that consulting patients not only receive complete understanding but also understand this information and anticipate the impact of the test result before deciding to take the test.

Genetics in clinical practice: general practitioners' educational priorities in European countries

Purpose: To assess how general practitioners (GPs) from European countries prioritized their genetic educational needs according to their geographic, sociodemographic, and educational characteristics.Methods: Cross-sectional survey, random and total samples of GPs in five European countries (France, Germany, the Netherlands, Sweden, and United Kingdom), mailed questionnaires; Outcome: Genetic Educational Priority Scale (30 items; six subscores).Results: A total 1168 GPs answered. Priorities differed (P < 0.001) but were consistently ranked across the countries. Previous education had a marginal effect on priorities. Women gave higher priorities than men to Genetics of Common Disorders (adjusted odds ratio [ORadj], 2.5; 95% confidence interval [CI], 1.6–3.8), Psychosocial and Counseling Issues (ORadj, 1.6; 95% CI, 1.1–2.5), and Ethical, Legal, and Public Health Issues (ORadj, 1.3; 95% CI, 1.1–1.8), but lower than men to Techniques and Innovation in Genetics (ORadj, 0.7; 95% CI, 0.5–0.9). Older physicians gave higher priorities to Basic Genetics and Congenital Malformations (ORadj, 1.5; 95% CI, 1.1–1.9), and to Techniques and Innovation in Genetics (ORadj: 1.3; 95% CI, 1.0–1.7), compared with their younger colleagues.Conclusions: Expressed genetic educational needs vary according to the countries and sociodemographics. In accordance, training could be more focused on genetics of common disorders and on how to approach genetic risk in clinical practice rather than on ethics, new technologies, or basic concepts.