Karine Bouchard

Health Behaviors and Psychological Distress in Women Initiating BRCA1/2 Genetic Testing: Comparison with Control Population

The study objective was to compare breast cancer screening practices, lifestyle behaviors and psychological distress among 640 women initiating BRCA1/2 testing to those among 9,498 similarly-aged women from the general population. Health behaviors and psychological distress were reported in a self-administered questionnaire at pre-test genetic counseling. Regression analyses indicate that high-risk women were more frequently performing breast cancer screening and, in the case of those previously diagnosed with cancer, were more likely to be non-smokers and physically active than women from general population. However, women initiating BRCA1/2 testing were significantly more distressed than controls. Globally, high-risk women seemed to be well informed about recommendations for women who are at high risk and to have access to screening adapted to their risk level. Given their significant psychological distress, providing minimal psychosocial support to all women undergoing BRCA1/2 testing at pre-test genetic counseling is relevant.

Exploring resources for intrafamilial communication of cancer genetic risk: we still need to talk

While the importance of intrafamilial communication of hereditary cancer risk has been acknowledged, the factors that promote and act as barriers to patients disclosing their information to their families are complex and emerging. This raises the question: How are patients guided in practice to contemplate intrafamilial communication? Focusing on breast cancer, we conducted an exploratory study examining current resources supporting patients and health-care professionals, and isolated the messages surrounding intrafamilial communication of cancer risk. We find the duty for health-care professionals to counsel patients regarding intrafamilial communication is acknowledged to varying degrees by multiple actors in the cancer care delivery landscape, including health-care professional associations, health service organizations, and patient groups. A range of medical, psychosocial, and other factors underlying intrafamilial communication are acknowledged in messages to patients. Patients, however, are often referred to a single group of health-care professionals to discuss their diverse and complex needs. At the same time, messages aimed at patients appear to place the emphasis on barriers that could exist for patients contemplating intrafamilial communication, while highlighting the benefits families derive from such communication. Taken together, this points to a lack of coherence within materials directed to patients and suggests the need to do coordinated research among stakeholders to address two related issues: (1) determining who are the actors best positioned to send messages surrounding intrafamilial communication to patients and (2) addressing the content of messages conveyed in patient materials.

A focus group study on breast cancer risk presentation: one format does not fit all

Identifying a strategy that would optimize both the communication and understanding of the individual breast cancer risk remains a considerable challenge. This study explored the preferences of women with a family history of breast cancer about six presentation formats of individual breast cancer risk, as calculated from a risk prediction model. Thirty-four unaffected women attending genetic counseling because of a family history of breast cancer participated in six focus groups conducted in Québec City (2), Montréal (2) and Toronto (2), Canada. Six risk formats were presented for a fictitious case involving a 35-year-old woman (1—numerical: cumulative risk probabilities by age until 80 years; 2—risk curves: probabilities expressed in a risk curve that also provided a risk curve for a woman with no family history in first-degree relatives; 3—relative risk of breast cancer by age 80 years; 4 and 5—absolute risk of breast cancer and absolute chance of not developing breast cancer in the next 20 years; 6—qualitative: color-coded figure). Participants were asked to indicate their appreciation of each format. A group discussion followed during which participants commented on each format. The most and least appreciated formats were risk curves and relative risk, respectively. Overall, participants advocated the use of formats that combine quantitative, qualitative and visual features. Using a combination of approaches to communicate individual breast cancer risks could be associated with higher satisfaction of counselees. Given the increasing use of risk prediction models, it may be relevant to consider the preferences of both the counselee and the professional.

Incidence and predictors of positive and negative effects of BRCA1/2 genetic testing on familial relationships: a 3-year follow-up study

Purpose:Little is known about the long-term impact of BRCA1/2 testing on the relationships between family members. We assessed the incidence of positive and negative family relationship effects of BRCA1/2 testing in the 3 years after result disclosure and identified predictors of these effects.Methods:A total of 485 women and 67 men who had undergone BRCA1/2 testing were asked 3 years later whether having been tested had improved and/or disrupted relationships with their relatives. The associations with sociodemographic, medical, and psychosocial characteristics were assessed.Results:Globally, 85.1% did not report any positive or negative effects of genetic testing on family relationships. Positive and negative effects were reported by 13.2% and 3.7% of participants, respectively. Reporting positive relationship effects was associated with older age, intolerance for uncertainty, cancer-specific distress, and more social support. Low education, positive attitude toward prophylactic mastectomy, and low social support increased the likelihood of negative effects.Conclusion:Our findings do not support the belief that family relationships are frequently disrupted by BRCA1/2 testing. Understanding that most family relationships are unchanged long term by genetic testing may help genetic service providers encourage those considering testing to overcome hesitancy related to potential difficulties of communicating results to relatives.Genet Med 2012:14(1):60–68.

Systematic review of educational tools used during the BRCA1/2 genetic testing process

This review describes the characteristics of available educational tools used for BRCA1/2 genetic testing. To identify the tools, we conducted a systematic search in electronic databases, and contacted over 1000 cancer genetics professionals. This review is based on 68 tools from the USA, Canada, Australia, the UK, France and Ireland. The tools vary in format and scope depending on the genetic testing phase for which they are intended. We found that a wide diversity of educational materials are available and used for BRCA1/2 genetic testing around the world. However, a substantial number of tools fail to address important aspects of genetic testing.

Influence of the family cluster effect on psychosocial variables in families undergoing BRCA1/2 genetic testing for cancer susceptibility

Objective: This study evaluated the influence of the family cluster effect on behavioral and psychological variables among individuals undergoing BRCA1/2 genetic testing for cancer susceptibility.

Development of a Tool to Guide Parents Carrying a BRCA1/2 Mutation Share Genetic Results with Underage Children

Although most parents carrying a BRCA1/2 genetic mutation share their test result with their underage children, they report needing support to decide if, when, and how to share risk information and what reactions to expect from their children. We developed a tool to guide parents carrying a BRCA1/2 mutation share their genetic result with underage children. Here, we report on the development of this tool using a qualitative methodology. A tool prototype was developed based on the International Patient Decision Aids Standards Collaboration framework. Content was assessed using feedback from focus groups, individual interviews, and a 12-item reading grid. Participants were nine BRCA1/2 mutation carriers with underage children and three cancer genetics health professionals. Thematic content analysis was conducted on interview transcripts. The tool was developed using an iterative process until saturation of data. An independent advisory committee was involved in all steps of tool development until reaching consensus. Rather than a decision aid per se (to communicate or not), the parents wanted a more comprehensive tool to help them communicate genetic test result to their children. To meet parents’ needs, a communication guidance booklet was developed, setting out the pros and cons of communication, steps to prepare sharing the test result, communication tips, and parents’ testimonies. This communication tool responds to a significant unmet need faced by parents carrying a genetic predisposition to cancer. Future studies are needed to assess how the information from the parent’s genetic test result impacts the child’s development, health behaviors, and relationship with the parent.

Protocole de prise en charge multidisciplinaire: expérience de femmes québécoises ayant subi une mastectomie prophylactique

UNLABELLED Prophylactic mastectomy is an effective, although controversial strategy to reduce the risk of breast cancer in women carrying a BRCA1/2 mutation. A multidisciplinary pre- and post-operative clinical management is recommended for women who consider or undergo this surgery, because of its radical and irreversible nature as well as its possible impact on quality of life. OBJECTIVE This study aims to report on the experience of patients having undergone prophylactic mastectomy within a medical setting offering such a clinical management. METHODS A retrospective qualitative study was conducted with patients having had a prophylactic mastectomy between 2002 and 2006 at the centre des maladies du sein Deschênes-Fabia (CMSDF) in Quebec City. Fifteen women were interviewed and the narratives were analyzed using thematic content analysis method. RESULTS The participants generally appreciated the multidisciplinary approach that was used at the CMSDF and believed it was necessary. Improvements were suggested regarding information and post-surgical medical follow-up, some of which are now implemented. CONCLUSION The study results confirm the utility and the acceptability of a multidisciplinary clinical follow-up for women who undergo prophylactic mastectomy.

Protocole de prise en charge multidisciplinaire : expérience de femmes québécoises ayant subi une mastectomie prophylactiqueMultidisciplinary clinical management for prophylactic mastectomy: views of women from one centre in Quebec City

UNLABELLED Prophylactic mastectomy is an effective, although controversial strategy to reduce the risk of breast cancer in women carrying a BRCA1/2 mutation. A multidisciplinary pre- and post-operative clinical management is recommended for women who consider or undergo this surgery, because of its radical and irreversible nature as well as its possible impact on quality of life. OBJECTIVE This study aims to report on the experience of patients having undergone prophylactic mastectomy within a medical setting offering such a clinical management. METHODS A retrospective qualitative study was conducted with patients having had a prophylactic mastectomy between 2002 and 2006 at the centre des maladies du sein Deschênes-Fabia (CMSDF) in Quebec City. Fifteen women were interviewed and the narratives were analyzed using thematic content analysis method. RESULTS The participants generally appreciated the multidisciplinary approach that was used at the CMSDF and believed it was necessary. Improvements were suggested regarding information and post-surgical medical follow-up, some of which are now implemented. CONCLUSION The study results confirm the utility and the acceptability of a multidisciplinary clinical follow-up for women who undergo prophylactic mastectomy.

Perspectives of Women Considering Bilateral Prophylactic Mastectomy and their Peers towards a Telephone-Based Peer Support Intervention

Prophylactic mastectomy is an effective strategy to reduce the risk of breast cancer for women carrying a BRCA1/2 germline mutation. This decision is complex and may raise various concerns. Women considering this surgery have reported their desire to discuss the implications of this procedure with women who have undergone prophylactic mastectomy. We conducted a qualitative study to describe the topics covered during a telephone-based peer support intervention between women considering prophylactic mastectomy (recipients) and women who had undergone this surgery (peers), and to explore their perspectives regarding the intervention. Thirteen dyads were formed and data from participant logbooks and evaluation questionnaires were analyzed using a thematic content analysis. Three main dimensions emerged: physical, psychological, and social. The most frequent topics discussed were: surgery (92%), recovery (77%), pain and physical comfort (69%), impacts on intimacy and sexuality (54%), cancer-related anxiety (54%), experience related to loss of breasts (46%). Peers and recipients report that sharing experiences and thoughts about prophylactic mastectomy and the sense of mutual support within the dyad contributed significantly to their satisfaction. Special attention should be paid to the similarities between personal and medical profiles in order to create harmonious matches.