Seeking Balance: Decision Support Needs of Women Without Cancer and a Deleterious BRCA1 or BRCA2 Mutation

Recommendations for women with a deleterious BRCA1 or BRCA2 gene mutation include complex medical approaches related to cancer risk reduction and detection. Current science has not yet fully elucidated decision support needs that women face when living with medical consequences associated with known hereditary cancer risk. The purpose of this study was to describe health communication and decision support needs in healthy women with BRCA1/2 gene mutations. The original researchers completed an interpretive secondary qualitative data analysis of 23 phenomenological narratives collected between 2008 and 2010. The Ottawa Decision Support and Patient Centered Communication frameworks guided the study design and analysis. Women described a pattern wherein breast and ovarian cancer risk, health related recommendations and decisions, and personal values were prioritized over time based on life contexts. Knowing versus acting on cancer risk was not a static process but an ongoing balancing act of considering current and future personal and medical values, further compounded by the complexity of recommendations. Women shared stories of anticipatory, physical and psychosocial consequences of the decision making experience. The findings have potential to generate future research questions and guide intervention development. Importantly, findings indicate a need for ongoing, long-term, support from genetics professionals and decision support interventions, which challenges the current practice paradigm.     

The Decision to Test in Women Receiving Genetic Counseling for BRCA1 and BRCA2 Mutations

Functions of genetic counseling include provision of risk information and provision of support in an effort to assist with decision making. This study examines (1) the relationship among intentions to test, self-reported provision of blood sample, and receipt of test results; (2) the impact of genetic counseling on distress specific to gene status, perceived risk of developing breast and ovarian cancer in the context having BRCA1/2 mutations (mutations predisposing to increased risk of breast-ovarian cancer), and perceived risk factors for breast cancer; and (3) the clinical profile of those receiving/not receiving results. Intentions to test for BRCA1/2 mutations, self-reported provision of blood sample immediately after counseling, and receipt of test results were statistically different but highly correlated, and intentions to test increased from pre- to postcounseling. A repeated measures ANOVA found distress specific to gene status and perceived risk factors decreased from pre- to postcounseling. Further, two clinical profiles of consultands emerged: (1) those receiving results with change in intentions to test having lower levels of distress and (2) those not receiving results and those receiving results with no change in intentions to test with higher levels of distress. Our findings are consistent with the function of genetic counseling-to provide information and support to those with familial cancer, as well as to assist in decision making. The provision of support is important as distress specific to gene status may impede flexible decision making about genetic testing.     

Development and Evaluation of a Decision Aid for BRCA Carriers with Breast Cancer

BRCA+ breast cancer patients face high risk for a second breast cancer and ovarian cancer. Helping these women decide among risk-reducing options requires effectively conveying complex, emotionally-laden, information. To support their decision-making needs, we developed a web-based decision aid (DA) as an adjunct to genetic counseling. Phase 1 used focus groups to determine decision-making needs. These findings and the Ottawa Decision Support Framework guided the DA development. Phase 2 involved nine focus groups of four stakeholder types (BRCA+ breast cancer patients, breast cancer advocates, and genetics and oncology professionals) to evaluate the DA's decision-making utility, information content, visual display, and implementation. Overall, feedback was very favorable about the DA, especially a values and preferences ranking-exercise and an output page displaying personalized responses. Stakeholders were divided as to whether the DA should be offered at-home versus only in a clinical setting. This well-received DA will be further tested to determine accessibility and effectiveness.     

Factors Associated with Psychological Distress among Women of African Descent at High Risk for BRCA Mutations

Little is known about psychological distress among women of African descent who are at high risk for a BRCA mutation. This is a group for whom breast cancer risk reduction is critical due to the group’s high rates of breast cancer mortality. Distress is important to consider as it may reduce the potential benefit of genetic counseling and negatively affect decision making related to risk reduction. The goals of the current study were to examine breast cancer-specific distress and depressive symptoms in women of African descent at who are at high risk for a BRCA mutation and to identify background factors associated with these outcomes. Participants were 148 high-risk African American and Caribbean women who were part of a larger study that offered participants BRCA counseling at no cost. Participants completed the Impact of Events Scale, which assessed breast cancer-specific distress, and the Center of Epidemiological Studies-Depression Scale, which assessed depressive symptoms. Results of analyses revealed that almost half of the sample achieved scores indicating high and clinically significant breast cancer-specific distress, while almost one-third had clinically significant depression scores. Results further showed that low income was significantly associated with cancer-specific distress, while having a cancer diagnosis was significantly associated with depressive symptoms. These results underscore the need for targeted psychological support throughout the genetic risk assessment process for this particular high-risk group.     

Patient Motivation, Satisfaction, and Coping in Genetic Counseling and Testing for BRCA1 and BRCA2

Women with a strong family history of breast and/or ovarian cancer can now have genetic testing, that may identify mutations associated with increased cancer predisposition. Within the context of a clinical trial evaluating printed educational materials, we examined motivation, satisfaction, coping, and perceptions of genetic counseling and testing among 159 women who underwent pretest counseling and made a testing decision. Ninety-six percent of the participants elected to have BRCA1/2 testing. When making a decision about genetic testing, study participants were concerned less about the potential negative effects that could result from testing than the potential benefits. After counseling, participants said that they felt better able to make decisions that were right for them and that their questions and concerns were adequately addressed during the session. Ninety-five percent of the women were satisfied with their test decision. Participants used a range of strategies to cope with thoughts and feelings about cancer and/or genetic testing immediately following test decision. Results suggest that the genetic counseling session helped women make decisions about testing for BRCA1 and BRCA2, even in the setting of a trial in which all women also received detailed educational materials. Further, the results indicate that future research focusing on perceptions of risks and benefits of testing and of coping strategies immediately following test decision may be warranted.     

Disclosure Pattern and Follow-Up After the Molecular Diagnosis of BRCA/CHEK2 Mutations

Five to 10 % of all breast cancer cases are due to mutations of high penetrance susceptibility genes, especially BRCA1 and BRCA2. In families with known BRCA mutations, disclosure of genetic test results could induce relatives to undergo genetic testing themselves and adopt cancer risk management strategies, if necessary. This study examines disclosure patterns of individuals tested for mutations in the BRCA1, BRCA2 and CHEK2 genes to first-degree relatives with emphasis on a possible gender difference. It also assesses which management strategy is preferred by mutation-positive women in Belgium and the influence of psychological characteristics on communication and choice of management strategy. Ninety-nine adults from BRCA/CHEK2 families, selected from the Centre of Medical Genetics of Antwerp, were included in the study. They were provided with medical and psychological questionnaires, the latter being the Self-Assessment Questionnaire, which is the Dutch version of the Spielberger State-Trait Anxiety Inventory and the Dutch version of the Coping Inventory for Stressful Situations (CISS-NL). The survey focused on disclosure, coping and management strategies with special attention on possible gender differences. The influence of socio-demographic and medical data on disclosure and cancer risk management as well as the influence of psychological features were examined by means of various statistical analyses. Ninety-nine patients were included, of whom 25 (25 %) were male. Eighty-seven percent of the participants informed all of their adult first-degree relatives about their mutation status without any gender discrimination. Seventy-eight percent of highly-educated participants informed all of their adult first-degree relatives, compared to 98 % of less formally-educated participants (p?=?0.006). The majority of mutation-positive women preferred prophylactic surgery to surveillance. Psychological differences appeared to have little influence on disclosure patterns and management strategies. The gender difference seems to be less pronounced than previously assumed. A striking observation, however, is the fact that significantly more participants who were less formally-educated informed all of their adult first-degree relatives, compared to participants who were highly-educated. In our study population, most female mutation carriers opted for prophylactic surgery. Since the study population is small, further studies are needed to enhance the generalizability of these results.     

Development of a Communication Aid to Facilitate Risk Communication in Consultations with Unaffected Women from High Risk Breast Cancer Families: A Pilot Study

The literature on risk perception in women from high-risk breast cancer families reveals persistent over-estimation of risk, even after counseling. In this study, a communication aid was designed to facilitate discussion of risk between clinical geneticists and genetic counselors and women from this high-risk population. Method: Stage 1. The aid was developed by an expert panel of clinical geneticists, genetic counselors, psychologists, an epidemiologist, an oncologist, linguists and a consumer. It was guided by the international literature on risk communication and a large multi-centre Australian study of risk communication. The 13 page full-color communication aid used varying formats of words, numbers, graphs and pie-charts to address (a) the woman’s subjective risk; (b) the population risk of breast cancer; c) the risk of inherited breast cancer; (d) the cumulative risk for women with BRCA1 and BRCA2 mutations; (e) family risk factors; (f) the woman’s suitability for genetic testing; (h) screening and management recommendations, and (i) a re-assessment of the woman’s subjective risk. Stage 2: A before–after pilot study of 38 women who were unaffected with breast cancer and were attending four Australian familial cancer clinics was undertaken. Baseline and follow-up questionnaires were completed by 27 women. Outcomes were compared to those observed in 107 similar women undergoing genetic counseling without the communication aid in 2001. Results: The risk communication aid appears to be beneficial; breast cancer genetics knowledge improved in some areas and importantly, risk perceptions improved in the cohort receiving the communication aid. Psychological measures showed no difference in anxiety or depression between the group receiving the communication aid and the comparison cohort. Women and clinicians were very positive about the usefulness of the communication aid as an adjunct to the genetic counseling consultation.     

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.     

Women’s Decision Making about Risk-Reducing Strategies in the Context of Hereditary Breast and Ovarian Cancer: A Systematic Review

Women who have a mutation in the BRCA1 or BRCA2 genes have up to an 87% lifetime risk of breast cancer and up to a 40% lifetime risk of ovarian cancer. Cancer prevention and early detection strategies are often considered by these women to address this heightened risk. Risk-reducing strategies include risk-reducing mastectomy and oophorectomy, breast and ovarian cancer screening, and chemoprevention. This systematic literature review summarizes the factors and contexts that influence decision making related to cancer risk-reducing strategies among women at high-risk for hereditary breast and ovarian cancer. In the 43 published research articles reviewed, three main types of factors are identified that influence high-risk women’s decisions about risk-reducing strategies: a) medical and physical factors, b) psychological factors and c) social context factors. How these factors operate in women’s lives over time remains unknown, and would best be elucidated through prospective, longitudinal research, as well as qualitative research.     

Factors Associated with Interest in Gene-Panel Testing and Risk Communication Preferences in Women from <Emphasis Type="Italic">BRCA1/2</Emphasis> Negative Families

Scientific advances have allowed the development of multiplex gene-panels to assess many genes simultaneously in women who have tested negative for BRCA1/2. We examined correlates of interest in testing for genes that confer modest and moderate breast cancer risk and risk communication preferences for women from BRCA negative families. Female first-degree relatives of breast cancer patients who tested negative for BRCA1/2 mutations (N = 149) completed a survey assessing multiplex genetic testing interest and risk communication preferences. Interest in testing was high (70 %) and even higher if results could guide risk-reducing behavior changes such as taking medications (79 %). Participants preferred to receive genomic risk communications from a variety of sources including: primary care physicians (83 %), genetic counselors (78 %), printed materials (71 %) and the web (60 %). Factors that were independently associated with testing interest were: perceived lifetime risk of developing cancer (odds ratio (OR) = 1.67: 95 % confidence interval (CI) 1.06–2.65) and high cancer worry (OR = 3.12: CI 1.28–7.60). Findings suggest that women from BRCA1/2 negative families are a unique population and may be primed for behavior change. Findings also provide guidance for clinicians who can help develop genomic risk communications, promote informed decision making and customize behavioral interventions.     

Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers

Women with a germline pathogenic variant in the BReast CAncer susceptibility genes (BRCA1 or BRCA2) have an increased risk of early-onset breast and ovarian cancer. In addition to weighing cancer screening and risk-reduction options, healthy BRCA mutation carriers of childbearing age may choose to preclude passing the mutation to the next generation. In the current study, we report on preimplantation genetic diagnosis (PGD) practices in BRCA-positive Israeli women who were offered PGD at no cost. Methods: we measured PGD uptake, decision satisfaction or regret, and predictors of uptake. Of the 70 participant female carriers, only 25.7% chose to use PGD to prevent transmission of the mutation, and were not predicted by age or religious affiliation. For those who chose IVF/PGD, satisfaction with the decision regarding IVF and PGD was significantly higher than those who did not have IVF and PGD (p?<?0.04). Experiencing previous infertility was the only significant predictor of uptake of IVF/PGD (p?<?0.001), which may suggest that BRCA status is secondary to infertility in the decision-making process for PGD in women with a BRCA mutation.     

Life Trajectories, Genetic Testing, and Risk Reduction Decisions in 18–39 Year Old Women at Risk for Hereditary Breast and Ovarian Cancer

This qualitative study identified four life trajectories that influenced the decision in young women to have genetic testing for mutations in BRCA1/2 and subsequent risk reduction decisions after receiving a positive mutation result. Fifty nine women between the ages of 18–39 years were interviewed in this grounded theory study, 44 of those tested were found to have a mutation in either BRCA1 or BRCA2. Of those with a mutation, 23 had no history of cancer and 21 had a breast cancer diagnosis. Analysis of the 44 participants tested found that risk reducing decisions were related to the life trajectories that preceded genetic testing. These life trajectories included: 1) Long-standing awareness of breast cancer in the family, 2) Loss of one’s mother to breast cancer at a young age, 3) Expression of concern by a health care provider, and 4) Personal diagnosis of breast cancer. Understanding possible influences behind decision making for genetic testing and risk reduction in young women may assist health care providers in offering age appropriate guidance and support.     

The Impact of Social Roles on the Experience of Men in BRCA1/2 Families: Implications for Counseling

Recent advances in genetics have identified several genes associated with inherited susceptibility to breast and ovarian cancer and have led to the commercial availability of mutation analyses. Although the majority of cancers associated with BRCA1/2 mutations are seen in women, men with BRCA1/2 mutations are at increased risk for male breast cancer, prostate cancer, pancreatic cancer and melanoma. Limited data available on the response of men in BRCA1/2 families suggest that the majority do not pursue genetic counseling, thus they may forgo the opportunity to improve health practices and to pass on valuable cancer risk information to offspring. The patterns of relationships of men within the family and society can pose challenges to their recognition of genetic health threats and the need for preventive interventions. Genetic counselors are in a position to inform at-risk males of their genetic risk, and to help them explore their personal health options.     

Effects of coping style and BRCA1 and BRCA2 test results on anxiety among women participating in genetic counseling and testing for breast and ovarian cancer risk.

Using the monitoring process model (MPM), the authors examined the immediate effects of coping style and test results on the psychological distress of women at increased risk for breast and/or ovarian cancers. Cases selected for analysis were 107 probands and relatives of positive probands participating in genetic counseling and testing for heritable cancer risk. Specifically, the authors explored the relationships among coping style (high and low monitoring), test results (BRCA1 and BRCA2 mutation carrier and noncarrier status), and psychological distress (state anxiety). Consistent with the MPM, higher monitoring was associated with greater psychological distress while anticipating genetic test results. After test results were disclosed, greater distress was associated with testing positive for a mutation. The implications of the findings for breast and ovarian cancer patients are discussed.     

Aspirin Use is Associated with Lower Prostate Cancer Risk in Male Carriers of BRCA Mutations

Previous studies have shown that male BRCA mutation carriers stand at increased risk of developing prostate cancer and have concerns about developing cancer. Genetic counseling practitioners often discuss strategies for reducing the risk of cancer for patients at high risk due to their genetic background. Addressing modifiable health habits is one such strategy. Unfortunately, modifiable risk factors for prostate cancer have only been documented in the general population and have not yet been studied in the BRCA carrier subpopulation. Therefore, this study aimed to identify modifiable risk factors for prostate cancer in BRCA carriers. We examined prostate cancer risk factors in 74 men who were part of families with a BRCA mutation. This study examined nine dichotomous variables including: exercise, history of vasectomy, smoking history, alcohol use, finasteride use, statin use, aspirin use, coffee use, and vitamin use. The survey was sent to all cases of prostate cancer in the Hereditary Cancer Center Database at Creighton University with a known BRCA status. This study confirmed the protective benefits of daily aspirin use, which have been observed in previous studies of the general population, and suggests its benefit in BRCA carriers. Protective benefits from regular vigorous exercise and daily coffee use trended towards significance, but neither factor withstood the Bonferroni Correction for multiple comparisons.     

Interest and Beliefs About BRCA Genetic Counseling Among At-Risk Latinas in New York City

Background: Latinas are less likely to use genetic services (counseling and testing) for hereditary breast and/or ovarian cancer risk compared to other ethnic groups. Meanwhile, little is known about barriers to genetic counseling among Latinas at increased risk of inherited breast cancer. Methods: A two-phase pilot study was conducted to examine interest, barriers and beliefs about BRCA genetic counseling among at-risk Latinas in New York City and explore the potential for developing a culturally-tailored narrative educational tool for use in future studies. Phase 1 included quantitative telephone interviews (N = 15) with bilingual participants with a personal diagnosis at a young age and/or family history of breast and/or ovarian cancer. Quantitative results informed development of a narrative prototype educational presentation viewed by a subset of participants (N = 10) in Phase 2 focus groups. Results: Despite barriers, including lack of awareness/knowledge, concerns related to learning cancer risks of family members, and concerns about cost/health insurance, participants reported positive attitudes, beliefs and interest in learning about BRCA genetic counseling. Further, significant increases in knowledge were demonstrated from pre-post presentation (p = 0.04). Conclusion: There is an unmet need to educate at-risk Latinas about BRCA genetic counseling. Culturally-tailored educational materials including narratives may increase knowledge about BRCA genetic counseling among this underserved group. The effectiveness of these approaches should be tested in future research with larger samples.     

Men’s Decision-Making About Predictive <Emphasis Type="Italic">BRCA1/2</Emphasis> Testing: The Role of Family

Men who have a family history of breast and/or ovarian cancer may be offered a predictive genetic test to determine whether or not they carry the family specific BRCA1/2 mutation. Male carriers may be at increased risk of breast and prostate cancers. Relatively little is known about at-risk men’s decision-making about BRCA1/2 testing. This qualitative study explores the influences on male patients’ genetic test decisions. Twenty-nine in-depth interviews were undertaken with both carrier and noncarrier men and immediate family members (17 male patients, 8 female partners, and 4 adult children). These explored family members’ experiences of cancer and genetic testing, decision-making about testing, family support, communication of test results within the family, risk perception and risk management. Implicit influences on men’s testing decisions such as familial obligations are examined. The extent to which other family members—partners and adult children—were involved in testing decisions is also described. It is demonstrated that mothers of potential mutation carriers not only perceive themselves as having a right to be involved in making this decision, but also were perceived by their male partners as having a legitimate role to play in decision-making. There was evidence that (adult) children were excluded from the decision-making, and some expressed resentment about this. The implications of these findings for the practice of genetic counseling are discussed.     

Communicating BRCA1/2 genetic test results within the family: a qualitative analysis

Genetic testing for BRCA1/2 mutations associated with hereditary breast and ovarian cancer reveals significant risk information about one's chances of developing cancer. It is important to study communication processes in families where members are undergoing genetic testing because the information received is crucial not just to the individual concerned but also to other members of the biological family. This study investigates family communication of BRCA1/2 test results from both the informants' and recipients' perspectives. A total of 10 female patients and 22 of their relatives were interviewed. Patients' and their relatives described feelings of responsibility for sharing genetic information within the family to enable others to reduce their risks of developing cancer. However, there were limits to an individuals' responsibility once key family members had been informed, who then had to take responsibility for continuing dissemination of information. Whilst there was an implicit responsibility to inform the family of a mutation, information was edited or withheld in the best interest of relatives, dependent upon their perceived emotional readiness, resilience and current life stage and circumstances. The pre-existing family culture and the impact previous cancer diagnoses had upon the family also influenced the process of communication. Findings are discussed in relation to extant literature and implications for clinical practice are considered.     

Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit

The identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer patients with genetic risk. We retrospectively compared family history records, referrals of high-risk patients to genetic counseling, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed before (first period: 2007–2010) and after the creation of the HFCU (second period: 2010–2013). In the first period, 893 patients were included, and 902 were included in the second. Due to the inability to establish their genetic risk, 142 patients (15.9%) vs. 70 (7.8%) were excluded from analysis (p?<?0.001). Among the evaluable patients, 194 (25.8%) vs. 223 (26.8%) fulfilled one or more risk criteria (p?=?0.65). Family history documentation in patient’s medical records (92.4 vs. 97.8%, p?<?0.001) and referral rate (26.3 vs. 52%, p?<?0.0001) significantly increased in the second period. Eight BRCA1/2 mutations were detected among patients referred in the first period and 17 among those referred to the HFCU. The rate of preventive surgeries in patients with BRCA mutations significantly increased in the second period (25 vs. 76.5%, p?=?0.03). In conclusion, there was a clear improvement in family history records, referrals, and preventive surgeries in breast cancer patients with genetic risk after the implementation of the HFCU.     

Experiences and Decisions that Motivate Women at Increased Risk of Breast Cancer to Participate in an Experimental Screening Program

Although the discovery of mutations on BRCA1 and BRCA2 genes associated with high breast cancer risk has given rise to screening and surveillance initiatives, there is little documentation on why high-risk women choose to enter screening programs. The objective of this qualitative study was to develop a detailed understanding of the experiences and decisions that motivate women with increased risk of hereditary breast cancer to participate in the multicentered Quebec experimental breast screening program. Our study involved 21 participants who were either BRCA carriers or at risk and untested. These women were interviewed while participating in the screening program. Our study demonstrates that intensive screening programs may provide valuable reassurance for women with increased familial risk of hereditary breast cancer, who count on early detection and rapid response from professionals if and when a problem arises. Health professionals must take these and others concerns into account to ensure their interventions are most consistent with women’s needs.