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.     

Identification of cognitive profiles among women considering BRCA1/2 testing through the utilisation of cluster analytic techniques

Based on the cognitive-social health information processing model, we identified cognitive profiles of women at risk for breast and ovarian cancer. Prior to genetic counselling, participants (N?=?171) completed a study questionnaire concerning their cognitive and affective responses to being at genetic risk. Using cluster analysis, four cognitive profiles were generated: (a) high perceived risk/low coping; (b) low value of screening/high expectancy of cancer; (c) moderate perceived risk/moderate efficacy of prevention/low informativeness of test result; and (d) high efficacy of prevention/high coping. The majority of women in Clusters One, Two and Three had no personal history of cancer, whereas Cluster Four consisted almost entirely of women affected with cancer. Women in Cluster One had the highest number of affected relatives and experienced higher levels of distress than women in the other three clusters. These results highlight the need to consider the psychological profile of women undergoing genetic testing when designing counselling interventions and messages.     

Subjective and Objective Risks of Carrying a BRCA1/2 Mutation in Individuals of Ashkenazi Jewish Descent

This repeated measures study examines (1) the change in subjective risk of mutations pre- to postcounseling, (2) the accuracy of BRCAPRO estimates of mutations, and (3) the discrepancy between subjective risk and BRCAPRO estimates of mutations before and after genetic counseling. Ninety-nine Ashkenazi Jewish individuals pursued testing for BRCA1/2 mutations. Most had a personal cancer history (N = 51; family only: N = 48); and received uninformative negative results (N = 66; positives: N = 23; informative negative: N = 10). The coping strategy of defensive pessimism predicts that individuals will believe the worst case scenario to better cope with a potential negative outcome. Consistent with this, most felt they would have a mutation, if not mutations in both genes. The BRCAPRO model appeared to overestimate risk of having a mutation in this sample (p < .001). BRCAPRO overestimates notwithstanding, genetic counseling increased accuracy of subjective risk (p < .01). Individuals with a family-only cancer history had the least accurate estimates of risk (p < .05) and may need further intervention to either manage anxiety or improve knowledge.     

Intention to communicate BRCA1/BRCA2 genetic test results to the family.

Guided by the theory of planned behavior, this analysis explores the communication skills of women who had genetic testing for BRCA1 and BRCA2. The key outcome was intention to tell test results to adult first-degree relatives. The theory predicts that global and specific attitudes, global and specific perceived social norms, and perceived control will influence the communication of genetic test results. A logistic regression model revealed that global attitude (p < .05), specific social influence (p < .01), and perceived control (p < .05) were significant predictors of intention to tell. When gender and generation of relatives were added to the regression, participants were more likely to convey genetic test results to female than to male relatives (p < .05) and were also more likely to communicate test results to children (p < .01) or siblings (p < .05) than to parents. However, this association depended on knowing the relative's opinion of genetic testing. Intention to tell was lowest among participants who did not know their relative's opinion. These results extend the theory of planned behavior by showing that gender and generation influence intention when the relative's opinion is unknown.     

Uptake of BRCA1 Genetic Testing in Adult Sisters and Daughters of Known Mutation Carriers in Norway

This study was undertaken to examine transmission of information to first-degree relatives of BRCA1 mutation carriers and uptake of genetic testing. The intention was to consider revision of current legislation related to privacy if information on life-saving health care was not disseminated to at-risk family members. The Norwegian Radium Hospital provides clinical genetics services for families at high risk for hereditary breast and ovarian cancer. Together with major hospitals nationwide we provide medical surveillance. Nearly all expenses are covered by the National Health insurance. Because of the high number of families with founder mutations in BRCA1, we are in a unique position to gather information about these groups. Within a consecutive series, we identified 75 BRCA1 mutation carriers and registered information transmission and uptake of genetic testing 6 months or more after the index mutation carriers had been informed about their mutation status. These 75 BRCA1 mutation carriers had 172 living first-degree relatives, aged 18 years or older (84 females, 88 males). Forty-four out of 54 (81.5%) of females over 30 had opted for genetic testing. The testing rate among all relatives was 43%. At any age, 63% of the females underwent genetic testing compared with 24% of the males (p<0.05). The overwhelming majority of adult females at risk opted for genetic testing. Males with daughters more frequently than males without daughters asked for testing. The findings give neither reason to reconsider legislation on privacy, nor for us to consider more aggressive methods of contacting relatives.     

Family Communication and Genetic Counseling: The Case of Hereditary Breast and Ovarian Cancer

In familial breast/ovarian cancer, the information that the proband is able to supply about other family members is of critical importance for genetic counseling. This frequently requires family communication. Forty-six women attending a cancer genetics clinic were interviewed as part of a longitudinal study. Nearly all reported affected maternal, rather than paternal relatives, which may indicate lack of awareness by women with paternal histories. There was also much more communication among female relatives. Mothers, where they were still alive, were key figures in supplying family information. Although the majority of the sample contacted at least one relative regarding counseling, most named a relative with whom they did not feel able to communicate on this subject. Probands balanced the perceived obligation of passing on information with that of not causing alarm. Communication, both obtaining and giving information, was impeded by adoption, divorce and remarriage, family rifts, and large age gaps between siblings.     

Toward a Model Informed Consent Process for BRCA1 Testing: A Qualitative Assessment of Women's Attitudes

As an initial part of a project to develop a model informed consent process for BRCA1 testing, we conducted a series of focus groups. At the groups, women initially expressed great interest in testing, but their interest diminished after learning more. If offered testing, women would most want to learn about test accuracy, practical details of testing, and management options if the result was positive. Perceived benefits of testing included gaining information leading to risk reduction, relief of uncertainty, more responsible parenting, and assisting in research. Perceived risks included the discomfort and cost of the testing process itself, and anxiety after a positive result. The risk of possible insurance discrimination was rarely mentioned spontaneously. Many women would want their providers to make recommendations, rather than be nondirective about testing. We observed that women vary greatly in their informational and counseling needs, and suggest that the informed consent process should be individualized, taking into account a woman's perception and her preferences for how testing decisions should be made.     

Development of an Interactive Decision Aid for Female BRCA1/BRCA2 Carriers

Shared decision making between patients and providers is becoming increasingly common, particularly when there is no clear preferred course of action. As a result, decision aids are being adopted with growing frequency and have been applied to many medical decision-making issues. One such issue where there is uncertainty is breast cancer risk management among BRCA1/BRCA2 carriers. We present the development of a CD-ROM decision aid to facilitate risk management decision making in this population. Our decision aid was developed with the intention of providing it through a randomized clinical trial. The CD-ROM is a multimedia, interactive intervention which provides information about breast cancer, risks associated with BRCA1 and BRCA2 mutations, risk management options for hereditary breast cancer, and a breast cancer risk management decision aid. The goal of this CD-ROM, offered as an adjunctive intervention, is to reduce decisional conflict and psychological distress and improve comprehension of risk information, decisional satisfaction, medical adherence, and quality of life for this population of women at increased risk for breast cancer.     

Risk Reduction Behaviors and Provider Communication Following Genetic Counseling and BRCA1 Mutation Testing in an African American Kindred

Little is known about the impact of cancer genetic counseling and testing on health behaviors in racial and ethnic subgroups. This prospective observational study examined use of risk reduction strategies following BRCA1 counseling and testing. Participants were female members of an African American kindred who received genetic education, counseling and testing (n = 40) and completed a 1-year follow-up interview. Mutation carriers were more likely to opt for breast (100%, 7/7) and ovarian (25%; 1 of 4) cancer surveillance than prophylactic surgery. Following genetic counseling, 71% (5/7) of the BRCA1 carriers who opted for surveillance reported having a mammogram within the year following receipt of their genetic test results. Ovarian cancer screening among mutation carriers increased from 0% at baseline to 25% (one of four) at 1 year. Compared to noncarriers (23%, 7/30), carriers (70%, 7/10) were more likely to discuss their BRCA1 test results with their primary health care providers. Surveillance for breast cancer was preferred to prophylactic surgery and chemoprevention as a way to reduce risk for these cancers. Our data indicate that patient-provider communication about BRCA1 test results is suboptimal.     

Breast cancer risk analysis: A genetic epidemiology service for families

Breast Cancer Risk Analysis, a service for women with breast cancer and their families, makes use of information drawn from fields such as genetics, epidemiology, and counseling. Its aim is to provide individuals with background information and information regarding the etiology and risks of breast cancer. Based on this information, individuals are helped to make appropriate decisions pertaining to treatment and follow-up. While making use of some of the information and processes used in genetic counseling, Breast Cancer Risk Analysis differs from most types of genetic counseling for reproductive decisions. Some of these differences are discussed here.     

Psychological impact of breast cancer on the patient and the family: A clinical perspective

Breast cancer is the most frequently occurring cancer in women, with 182,000 new cases diagnosed in 1993. Breast cancer will strike a sizable percentage of women during the child-rearing years impacting, therefore, not only on the woman, but on the significant others in her life. This article explores the impact of breast cancer for the patient's life partner, parents, and children. A model intervention program for cancer patients with young children, piloted at the Derner Institute and developed in conjunction with the American Cancer Society, is also discussed.     

BRCA1 Testing: Genetic Counseling Protocol Development and Counseling Issues

This article discusses the genetic counseling protocols which were developed and counseling issues that have arisen in the first 2 years of evaluating a large kindred with a BRCA1 mutation. The rationale for the development of the genetic counseling protocols and specific genetic counseling visual aids are presented and discussed. The protocols and counseling aids can serve as models for other programs offering cancer susceptibility testing. The observations of study counselors about study subject concerns and responses to genetic testing at the time of the pretest and posttest counseling sessions are presented.     

Individual,family, and societal dimensions of genetic discrimination: A case study analysis

Background. As the development and use of genetic tests have increased, so have concerns regarding the uses of genetic information. Genetic discrimination, the differential treatment of individuals based on real or perceived differences in their genomes, is a recently described form of discrimination. The range and significance of experiences associated with this form of discrimination are not yet well known and are investigated in this study. Methods. Individuals at-risk to develop a genetic condition and parents of children with specific genetic conditions were surveyed by questionnaire for reports of genetic discrimination. A total of 27,790 questionnaires were sent out by mail. Of 917 responses received, 206 were followed up with telephone interviews. The responses were analyzed regarding circumstances of the alleged discrimination, the institutions involved, issues relating to the redress of grievances, and strategies to avoid discrimination. Results. A number of institutions were reported to have engaged in genetic discrimination including health and life insurance companies, health care providers, blood banks, adoption agencies, the military, and schools. The alleged instances of discrimination were against individuals who were asymptomatic and sometimes impacted on other asymptomatic relatives. Few surveyed respondents knew of the existence of institutions such as state insurance commissions or the Medical Information Bureau, Inc., which may play roles in redress of grievances or correction of misinformation. Conclusions. Genetic discrimination is variable in form and cause and can have marked consequences for individuals experiencing discrimination and their relatives. The presence of abnormal genes in all individuals makes each person a potential victim of this type of discrimination. The increasing development and utilization of genetic tests will likely result in increased genetic discrimination in the absence of contravening measures. All authors contributed equally to this work. This work was supported by a grant from the U.S. Department of Energy and funding from the Department of Mental Retardation of the Commonwealth of Massachusetts.     

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.     

Increasing Utilization of Cancer Genetic Counseling Services Using a Patient Navigator Model

Rarely has utilization of genetic counseling for Hereditary Breast and Ovarian Cancer (HBOC) been studied separately from utilization of testing. At Kaiser Permanente Colorado, consistently only 30% of all members referred for HBOC attend genetic counseling. To increase the volume of genetic counseling appointments, a patient navigator approach was pilot tested in a randomized-controlled trial over 3 months. A total of 125 members were referred for HBOC genetic counseling (55 randomized to PN, 70 randomized to usual care). Utilization of referrals for Navigator-assisted members was 44%, compared to 31% in the usual care arm (p=0.16). The patient navigator significantly decreased time to appointment, with over 80% of Navigator-assisted members seen for genetic counseling less than three months from referral date, compared to 32% in usual care (p=0.002). patient navigator assistance shortens time from referral to appointment for HBOC genetic counseling, and may increase utilization of such services.     

Psychological Interventions and Genetic Testing: Facilitating Informed Decisions About BRCA1/2 Cancer Susceptibility

Genetic testing for inherited cancer susceptibility, based on the recently identified. BRCA1 and BRCA2 genes, will soon be available on a large scale. However, at present, genetic test results do not lead to clearly indicated diagnostic or preventive measures, and the nature of the psychological impact of BRCA1/2 testing is still largely unknown. This uncertainty, combined with preliminary evidence suggesting significant individual differences in reactions to genetic susceptibility feedback, constitutes a unique challenge for any individual contemplating such testing. We outline the nature of this challenge and then propose an intervention strategy designed to help individuals make deeply processed and psychologically well-informed decisions with regard to their genetic susceptibility. The intervention is guided by recent research findings and theory on the cognitive–emotional processing of cancer-risk information. Specifically, the goal is to prepare the individual for genetic testing by (1) cognitively and emotionally activating, or preliving, the individual's potential reactions to testing feedback; (2) facilitating accurate appraisal of the individual's cognitive–emotional reactions; and (3) enabling the individual to process these reactions through the use of well-established clinical techniques.     

Women's Understanding of Their Risk of Developing Breast/Ovarian Cancer Before and After Genetic Counseling

Many studies have reported that individuals frequently over- or underestimate their risk of developing cancer both before and after they attend genetic counseling for breast and/or ovarian cancer. Using a combination of interviews and written questionnaires, we investigated counselees' understanding of their risk of developing cancer before and after genetic counseling. We demonstrate that although 76% of the sample thought that their risk was elevated relative to women in general, only a small proportion (17%) were willing or able to provide a numerical estimate of their risk of developing cancer before they attended the clinic. Following the consultation, 43% indicated that their risk of developing cancer was lower than they had anticipated. Twenty-two percent described their risk in absolute rather than relative terms, i.e., that they would definitely (not) develop cancer in the future. The implications of these findings for further research are discussed.     

Experiences of mandated reporting among family therapists: a qualitative analysis

Mandated reporting of child abuse by Family Therapists (FTs) has been examined by the authors in two previous studies. The first study found that mandated reporting issues negatively affected FTs abilities to maintain a systemic focus. The second study surveyed types and frequencies of negative experiences of FTs with mandated reporting. A 46-item questionnaire was administered to 101 FTs. Results were significant for four of the items. The respondents also provided 116 comments related to mandated reporting experiences. This study provides a qualitative analysis of the written comments of the respondents regarding their xexperiences with mandated reporting of child abuse.