Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations

In a French national cohort of unaffected females carriers/non-carriers of a BRCA1/2 mutation, long-term preventive strategies and breast/ovarian cancer risk perceptions were followed up to 5 years after test result disclosure, using self-administered questionnaires. Response rate was 74%. Carriers (N=101) were younger (average age±SD=37±10) than non-carriers (N=145; 42±12). There were four management strategies that comprised 88% of the decisions made by the unaffected carriers: 50% opted for breast surveillance alone, based on either magnetic resonance imaging (MRI) and other imaging (31%) or mammography alone (19%); 38% opted for either risk reducing salpingo-oophorectomy (RRSO) and breast surveillance, based on MRI and other imaging (28%) or mammography alone (10%). The other three strategies were: risk reducing mastectomy (RRM) and RRSO (5%), RRM alone (2%) and neither RRM/RRSO nor surveillance (6%). The results obtained for various age groups are presented here. Non-carriers often opted for screening despite their low cancer risk. Result disclosure increased carriers' short-term high breast/ovarian cancer risk perceptions (P⩽0.02) and decreased non-carriers' short- and long-term perceptions (P<0.001). During follow-up, high breast cancer risk perceptions increased with time among those who had no RRM and decreased in the opposite case; high ovarian cancer risk perceptions increased further with time among those who had no RRSO and decreased in the opposite case; RRSO did not affect breast cancer risk perceptions. Informed decision-making involves letting women know whether opting for RRSO and breast MRI surveillance is as effective in terms of survival as RRM and RRSO

General Practitioners and Breast Surgeons in France, Germany, Netherlands and the UK show variable breast cancer risk communication profiles

International audienceBackground: No information is available on the attitudes of General Practitioners (GPs) and Breast Surgeons (BSs) to their delivery of genetic, environmental and lifestyle risk factor information about breast cancer. The aim of this study was to describe the Breast Cancer Risk Communication Behaviours (RCBs) reported by GPs and BSs in four European countries and to determine the relationships between their RCBs and their socio-occupational characteristics. Methods: Self-administered questionnaires assessing breast cancer risk communication behaviours using vignettes were mailed to a sample of Breast Surgeons (BS) and General Practitioners (GP) working in France, Germany, the Netherlands, and the UK (N = 7292). Their responses to questions about the risk factors were first ordered and compared by specialty and country after making multivariate adjustments. Rather than defining a standard Risk Presentation Format (RPF) a priori, the various RPFs used by the respondents were analyzed using cluster analysis. Results: Family history and hormonal replacement therapy were the risk factors most frequently mentioned by the 2094 respondents included in this study. Lifestyle BC risk factors such as obesity and alcohol were rarely/occasionally mentioned, but this point differed (p < 0.001) depending on the country and the specialty of the providers involved. Five distinct RPF profiles including the numerical/verbal presentation of absolute/relative risks were identified. The most frequently encountered RPF (34.2%) was characterized by the fact that it included no negative framing of the risks, i.e., the probability of not developing cancer was not mentioned. Age, specialty and country of practice were all found to be significant determinants of the RPF clusters. Conclusions: The increasing trend for GPs and BSs to discuss lifestyle risk factors with their patients suggests that this may be a relevant means of improving breast cancer prevention. Physicians' risk communication skills should be improved during their initial and vocational training

Testing the Children: Do Non-Genetic Health-Care Providers Differ in Their Decision to Advise Genetic Presymptomatic Testing on Minors? A Cross-Sectional Study in Five Countries in the European Union

BACKGROUND: Within Europe many guidelines exist regarding the genetic testing of minors. Predictive and presymptomatic genetic testing of minors is recommended for disorders for which medical intervention/preventive measures exist, and for which early detection improves future medical health. AIM: This study, which is part of the larger 5th EU-framework "genetic education" (GenEd) study, aimed to evaluate the self-reported responses of nongenetic health-care providers in five different EU countries (Germany, France, Sweden, the United Kingdom, and the Netherlands) when confronted with a parent requesting presymptomatic testing on a minor child for a treatable disease. METHODS: A cross-sectional study design using postal, structured scenario-based questionnaires that were sent to 8129 general practitioners (GPs) and pediatricians, between July 2004 and October 2004, addressing self-reported management of a genetic case for which early medical intervention during childhood is beneficial, involving a minor. RESULTS: Most practitioners agreed on testing the oldest child, aged 12 years (81.5% for GPs and 87.2% for pediatricians), and not testing the youngest child, aged 6 months (72.6% for GPs and 61.3% for pediatricians). After multivariate adjustment there were statistical differences between countries in recommending a genetic test for the child at the age of 8 years. Pediatricians in France (50%) and Germany (58%) would recommend a test, whereas in the United Kingdom (22%), Sweden (30%), and the Netherlands (32%) they would not. CONCLUSION: Even though presymptomatic genetic testing in minors is recommended for disorders for which medical intervention exists, EU physicians are uncertain at what age starting to do so in young children

General practitioner management of genetic aspects of a cardiac disease: a scenario-based study to anticipate providers’ practices

It is increasingly recognised that genetics will have to be integrated into all parts of primary health care. Previous research has demonstrated that involvement and confidence in genetics varies amongst primary care providers. We aimed to analyse perceptions of primary care providers regarding responsibility for genetic tasks and factors affecting those perceptions. Postal questionnaire including a hypothetical case management scenario of a cardiac condition with a genetic component was sent to random samples of medically qualified general practitioners in France, Germany, Netherlands, Sweden and UK (n = 1,168). Logistic regression analysis of factors affecting primary care practitioners’ willingness to carry out genetic tasks themselves was conducted; 61% would take a family history themselves but only 38% would explain an inheritance pattern and 16% would order a genetic test. In multivariate analysis, only the country of practice was consistently predictive of willingness to carry out genetic tasks, although male gender predicted willingness to carry out the majority of tasks studied. The stage of career at which education in genetics had been provided was not predictive of willingness to carry out any of the tasks analysed. Country of practice is significantly predictive of attitudes towards genetics in primary care practice and therefore genetic education structure and content in Europe will need to be significantly tailored towards country-specific approaches

Exploring cancer survivors’ views of health behavior change: "Where do you start, where do you stop with everything?"

International audienceObjective: Physical activity (PA) and a healthy diet can improve the well‐being of cancer survivors. However, cancer survivors often do not engage in these behaviours. This study aimed to explore barriers and facilitators to engaging in these behaviours following cancer treatment.Methods: During the development of a web‐based intervention to enhance health‐related quality of life in cancer survivors, 32 people who had completed treatment for breast, colon or prostate cancer were presented with an intervention for PA and healthy eating. In‐depth think‐aloud and semi‐structured interviewing techniques were used to elicit perceptions of both behaviours. Data were analysed using thematic analysis.Results: Some individuals reported implementing positive health behaviour changes to maintain health and prevent recurrence, or to help them to move forward after cancer. However, others reported feeling abandoned, and many did not report an intention to engage in lifestyle changes. Individuals discussed contextual and health‐related barriers that were specifically linked to their situation as post‐treatment cancer survivors: individuals described uncertainty about how to implement adaptive changes and perceived a lack of support from healthcare providers. Others viewed behaviour change as unnecessary or undesirable, with some arguing that non‐modifiable factors contributed more to their cancer diagnosis than lifestyle‐related factors.Conclusions: For many participants in this study, the period that follows treatment for cancer did not represent a ‘teachable moment’. A variety of complex and heterogeneous factors appeared to impact motivation, and may limit cancer survivors from engaging with diet and PA changes

Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes

This longitudinal study aimed to document (i) the information-giving and patient-communication styles of clinical geneticists and genetic counsellors (consultants) in familial breast cancer clinics and (ii) assess the effect of these styles on women`s knowledge, whether their expectations were met, satisfaction, risk perception and psychological status. A total of 158 women from high-risk breast cancer families completed self-report questionnaires at 2 weeks preconsultation and 4 weeks postconsultation. The consultations were audiotaped, transcribed and coded. Multivariate logistic regressions showed that discussing prophylactic mastectomy (P = 0.00) and oophorectomy (P = 0.01) led to women having significantly more expectations met; discussing genetic testing significantly decreased anxiety (P = 0.03) and facilitating understanding significantly decreased depression (P = 0,05). Receiving a summary letter of the consultation significantly lowered anxiety (P = 0.01) and significantly increased the accuracy of perceived risk (P = 0.02). Women whose consultant used more supportive communications experienced significantly more anxiety about breast cancer at the 4 weeks follow-up (P=0.00), These women were not significantly more anxious before genetic counselling. In conclusion, this study found that consultants vary in the amount of information they give and the way they communicate; and this variation can result in better or worse psychosocial outcomes. Greater use of supportive and counselling communications appeared to increase anxiety about breast cancer. Identifying methods to assist consultants to address emotional issues effectively may be helpful

Tailoring communication in consultations with women from high risk breast cancer families

This multicentre study examined the influence of patient demographic, disease status and psychological variables on clinical geneticists/genetic counsellors (consultants) behaviours in initial consultations with women from high-risk breast cancer families. One hundred and fifty-eight women completed a pre-clinic self-report questionnaire. The consultations were audiotaped, transcribed verbatim and coded. Consultants did not vary their behaviour according to women's expectations. However, significantly more aspects of genetic testing were discussed with women who were affected with breast cancer (P<0.001), screening and management with unaffected women (P=0.01) and breast cancer prevention with younger women (P=0.01). Prophylactic mastectomy was discussed more frequently with women with medical and allied health training (P=0.02), and prophylactic oophorectomy with women affected with breast cancer (P=0.03), those in non-professional occupations (P=0.04) and with a family history of breast and ovarian cancer (P<0.001). Consultants used significantly more behaviours to facilitate understanding with women who were in non-professional occupations (P=0.04); facilitated active patient involvement more with women affected with breast cancer (P<0.001) and used more supportive and counselling behaviours with affected women (P=0.02). This study showed that patient demographics were more likely to predict consultants' communication behaviours than the woman's psychological status. Methods to facilitate assessment of psychological morbidity are needed to allow more tailored communication

The impact of multiplex genetic testing on disease risk perceptions

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/110591/1/cge12403.pd

Participants' uptake of clinical trial results: a randomised experiment

BJC OPENInternational audienceBACKGROUND: Participants are showing great interest these days in obtaining the results of clinical trials. The aim of this study was to assess patients' uptake and understanding of the results of the trial in which they have participated and the impact of a letter offering patients the possibility of consulting the trial results on a specific website. METHODS: Breast cancer patients participating in a trial on the efficacy of Trastuzumab were randomly subdivided into an Internet group (who received the letter of invitation) and a control group (who did not receive it). Among 115 HER2-positive women from 21 centres, 107 (93%) answered a self-administered questionnaire. RESULTS: Most of the patients in both groups had access to the Internet (72.0%). The majority (97.2%) stated that receiving information about the trial results would be useful, and the oncologist was the most frequently preferred information provider. The Internet group's declared uptake of the trial results was only slightly higher (47.1% vs 33.9%; P=0.166); however, they understood the results significantly more accurately (18.8% vs 5.6%; P=0.039). INTERPRETATION: Although Internet was not the respondents' preferred source of information, the possibility of using this source slightly increased the uptake and understanding of the results

The Process of Deciding About Prophylactic Surgery for Breast and Ovarian Cancer: Patient Questions, Uncertainties, and Communication

Many, women who have, or are at risk for, BRCA, 1/2 mutations or breast cancer decline prophylactic surgery, but questions remain as to how they make and experience these decisions. Our methods consisted of interviewing 32 women for 2 hr each; 19 were tested, 20 were symptomatic. Our results showed that these surgical options forced women to confront questions, involving stresses and uncertainties, regarding: implications of test results, prognoses with and without surgery, and effects of surgery (e.g., on self‐image). Given these dilemmas, many women turned to doctors who then ranged in what and how they communicated about these issues, and how strongly they offered input. Some patients felt disappointed at provider non‐directiveness, while others found providers too directive. Patients turned to family members and friends, who also ranged in how and what they communicated, and whether they agreed with the patient and/or each other. Many women turned to patient communities, but then had to decide how involved to be, and what information to provide or accept. These data suggest that providers and others may need to be more aware of the series of questions, involving stresses and uncertainties, that these women face, and the complex roles providers themselves may play. These data highlight needs for physicians to be able to address these issues flexibly, gauging patient preferences for information and paternalism (vs. autonomy). These data suggest areas for future research: for example, on how providers decide whether, what and how to communicate about these issues, and how these choices shape treatment decisions