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.     

Predicting Zimbabwean women's ability to tell their partners to use condoms.

The effectiveness of AIDS education may depend on the development of models that predict and explain HIV prevention behavior. In this study, the aim was to test Fishbein and Ajzen's theory of reasoned action model in predicting women's capacity to tell their partner to use condoms. The basic theory pertains to the relationship of 1) attitude toward behavior and 2) the subjective norms to behavior; further refinements reflect factors such as 3) perceived behavioral control or self-efficacy, 4) and perceived barriers. A sample was drawn of 123 female first-year teacher trainees in Harare, Zimbabwe, in late 1990; a self-administered questionnaire was distributed and returned. 72% of the respondents were sexually experienced. The mean age of the entire sample was 24 years. The results of the multiple linear regression indicated that the model was able to predict were F(2,74)=32.81, p.0001. 47% of the variance was explained by this Fishbein model. Attitude toward behavior was significantly associated with the intention to tell one's partner to use condoms (beta = .60, p .05). Subjective norms were not significant (beta = .15, p .05). Perceived behavioral control and perceived barriers were also not significantly associated with the intention to tell one's partner to use condoms. A caveat was that the subjective norm was measured by only one item, and an improved conceptualization and measurement of this construct might have changed the relationship. The suggestion is that health educators should address women's underlying beliefs and attitudes about the benefits of telling their partners to use condoms. Future prospective studies will better delineate the relationship between attitude and behavior.     

Family Communication of BRCA1/2 Results and Family Uptake of BRCA1/2 Testing in a Diverse Population of BRCA1/2 Carriers

Previous studies examining communication of BRCA1/2 results with relatives and family uptake of BRCA1/2 testing have sampled from predominantly white, high SES cohorts ascertained solely from tertiary care centers. No studies have focused on family communication and testing among relatives of diverse BRCA1/2 carriers. We conducted structured interviews with 73 BRCA1/2 carriers identified at a public hospital and a tertiary cancer center. We asked participants if each first- and second-degree relative was aware of their BRCA1/2 results and whether or not each relative had tested. Generalized estimating equations identified rates and predictors of family communication and testing. Participants disclosed their test results to 73 % of 606 eligible relatives and 31 % of 514 eligible relatives tested. Communication and testing rates were similar for relatives of participants from the public hospital and the tertiary cancer center. Hospital site was not a significant predictor of either result disclosure or relative uptake of testing. African American and Asian/Pacific Islander participants were significantly less likely to disclose their results to their relatives; relatives of African American participants were significantly less likely to test. Addressing these disparities will require further research into the best ways to facilitate family communication and counsel at-risk relatives of racially and socioeconomically diverse BRCA1/2 mutation carriers.     

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.     

Predicting Child Restraint Device Use: A Comparison of Two Models1

This study's first objective was to apply Ajzen's theory of planned behavior (TPB) in the context of automobile child restraint device use to identify determinants of that behavior. A second objective was to test two specific hypotheses regarding the predictive role of perceived behavioral control: (a) Its inclusion should increase the proportion of variance already explained in intention by the attitudinal and normative components included in the theory of reasoned action; and (b) given the behavior under study, a model in which perception of behavioral control's influence on behavior is entirely mediated by intention, should fit the data. Subjects (N= 590) were parents driving with their 3- to 5-year-old children intercepted while entering or leaving parking lots of different public settings. The behavior of interest, child restraint device use, was rated by two independent observers. A self-report questionnaire assessing all constructs of Ajzen's model was given to the parent, who was instructed to return it by mail. Data were analyzed using LISREL VII. Results showed that perceived behavioral control and, to a lesser extent, attitude, emerged as the main determinants of behavioral intention which was itself predictive of child restraint device use. In addition, both hypotheses regarding the relation between perceived behavioral control on the one hand and intention and behavior, on the other, were supported. Discussion centered first on the mechanism through which perceived behavioral control exerts its influence, and second on the implications of the present results for the theory of reasoned action as well as for the theory of planned behavior.     

Young adults' intention to eat healthy food: Extending the theory of planned behaviour

Abstract

The present study predicts adults' intention to eat healthily, using the theory of planned behaviour (TPB) and additive and moderating effects of role identity, group norms and group identification, derived from identity theory and self categorisation theory. A total of 735, 25 years old adults participated in a mailed questionnaire survey in 1997. The TPB explained 52% of the variance in young adults' decision to eat healthily, with perceived behavioural control and subjective norms being the strongest (β= .56, p < .001) and weakest (β = .05, p < .005) determinants, respectively. Although, role identity accounted for an additional amount of 4% of the variance in behavioral intention, past behaviour did not moderate the impact of role identity on intention, as hypothesised. Neither perceived group norm nor group identification added to the prediction of intention over and above the TPB. However, group identification was found to act as a moderator on the relation between group norm and behavioural intention in the predicted direction. The wider social context seems to play a stronger role for the formation of adults' healthy eating decisions than indicated by the TPB.     

Interpersonal responses among sibling dyads tested for BRCA1/BRCA2 gene mutations.

OBJECTIVE: The familial context plays an important role in psychosocial responses to genetic testing. The purpose of this study was to compare sibling pairs with different combinations of BRCA1/BRCA2 test results on measures of affect, interpersonal responses, and physiological reactions. DESIGN: Forty-nine sibling dyads with different combinations of BRCA1/BRCA2 test results (i.e., mixed, positive, negative) completed a questionnaire, and 35 of the dyads also participated in a laboratory-based discussion of genetic testing. MAIN OUTCOME MEASURES: The primary outcome variables included participant reports of supportive actions toward their sibling, state anger and anxiety, perceptions of sibling behavior, and electrodermal responses. RESULTS: Compared to positive and negative dyads, mixed pairs reported less friendly general support actions, noted more anger, and perceived their sibling to be less friendly and more dominant during the interactions. In comparisons between same-result (i.e., positive, negative) pairs, positive dyads reported more dominant support behaviors and perceived their sibling to be friendlier during the interactions. CONCLUSION: Data suggest that siblings who have different test results may experience more interpersonal strain than siblings who have the same test result. Future research on genetic testing and family relationships can expand upon these findings.     

Talking to Children About Maternal BRCA1/2 Genetic Test Results: A Qualitative Study of Parental Perceptions and Advice

Family communication is the primary, initial means of educating the next, at-risk generation about hereditary cancer risk. In this study, in-depth parent narratives provided self-report of motivations, planning, satisfactions and regrets associated with sharing or not sharing maternal BRCA1/2 test results with young children and advice for parents considering disclosure and for genetic counselors. Interviews were conducted with 32 mothers tested for BRCA1/2 with children ages 8–21 years and 24 of their co-parents; interview narratives were analyzed qualitatively. Parents were concerned with both protecting and educating children about hereditary cancer risk. They expressed confidence that parents can constructively convey genetic information to minor children. Telling relieved most parents and satisfied a sense of parental duty. Parents strongly advised child-specific, age-appropriate tailoring of genetic information and emphasized conveying the positive, preventive utility of genetic information to children. Immunizing effects of disclosure were viewed as providing forewarning about and preparation for possible later family cancer diagnoses. Parents choosing not to tell children were advised to consider future disclosure. Narratives about parental sharing of BRCA1/2 test results with minor children support the feasibility of parental discussion of maternal genetic test results to the next at-risk generation. Results suggest development of intervention tools for parents would support decision-making and family communication and potentially reduce parental worry and regret. Recommendations are made for more active involvement by genetic counselors with tested parents around the topic of delivery of genetic information to children.     

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.     

Life Events may Contribute to Family Communication About Cancer Risk Following BRCA1/2 Testing

We assessed whether certain life events contributed to the communication about cancer risk within families who have undergone BRCA1/2 testing. We also explored what type of resources participants would have valued to help in supporting family communication about genetic information. Two hundred and forty-six individuals (218 women, 28 men) who received a BRCA1/2 genetic test result 3 to 10 years earlier (mean of 6.4 years) participated in a telephone interview. Participants were asked about the occurrence of a number of life events (cancer diagnosis, death, uptake of prophylactic surgery, and providing care to a family member with cancer) in their family since their BRCA1/2 test result disclosure and, for each occurrence, whether it fostered family communication about cancer risk. A total of 182 participants (74 %) reported that they or one of their relatives received a cancer diagnosis, 176 (72 %) reported that someone died in their family, and 73 (30 %) stated that they or one of their relatives undertook a prophylactic surgery. During this period, 109 participants (44 %) also provided care for a family member who had cancer. Among participants who reported these life events, family communication was fostered by these events in proportions varying from 50 % (death) to 69 % (cancer diagnosis). Our results indicate that life events may contribute to family communication about cancer risk. Further research is needed to determine whether these events provide a “window of opportunity” to reach family members, address their needs and concerns about cancer, update family cancer history, and introduce genetic counseling and risk assessment.     

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.     

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.     

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.     

Telephoned BRCA1/2 Genetic Test Results: Prevalence, Practice, and Patient Satisfaction

While the traditional model of genetic evaluation for breast cancer risk recommended face-to-face disclosure of genetic testing results, BRCA1/2 testing results are increasingly provided by telephone. The few existing studies on telephone genetic counseling provide conflicting results about its desirability and efficacy. The current study aimed to (1) Estimate the prevalence among genetic counselors of providing BRCA1/2 genetic test results by phone (2) Assess patient satisfaction with results delivered by telephone versus in-person. A survey was sent to members of the Familial Cancer Risk Counseling Special Interest Group via the NSGC listserve and was completed by 107 individuals. Additionally, 137 patients who had received BRCA genetic testing results either by phone or in-person at UNC Chapel Hill Cancer Genetics Clinic were surveyed regarding satisfaction with the mode of their BRCA1/2 results delivery. The genetic counseling survey revealed that the majority of responding counselors (92.5%) had delivered BRCA1/2 genetic test results by telephone. Patients having received results either in person or by phone reported no difference in satisfaction. Most patients chose to receive results by phone and those given a choice of delivery mode reported significantly higher satisfaction than those who did not have a choice. Those who waited less time to receive results once they knew they were ready also reported higher satisfaction. This study found supportive results for the routine provision of BRCA1/2 genetic test results by telephone. Results suggest that test results should be delivered as swiftly as possible once available and that offering patients a choice of how to receive results is desirable. These are especially important issues as genetic testing becomes more commonplace in medicine.     

Family Communication Following BRCA1/2 Genetic Testing: A Close Look at the Process

This study examines the process of communicating BRCA1/2 genetic test results to family members, and the factors influencing disclosure. Twenty-nine semi-structured telephone interviews with BRCA1/2 tested individuals, 4 to 9 years post-notification, were conducted. Our results suggest that individual, familial, relational and socio-medical factors influence the decision to disclose/not disclose genetic test results to family members. These factors are at play in all three communication phases: the Decision-making phase, in which the individual ponders various factors before deciding to disclose test results to family members; the Disclosure phase, in which communication per se takes place; and the Reaction phase, which shapes the participant’s subsequent disclosure/non-disclosure decisions. We propose a guiding framework to assist in identifying and evaluating significant factors that might shape the course and outcome of the transmission of genetic information to family members.     

Using the theory of planned behaviour to predict screening uptake in two contexts

Given current policy that decisions about screening should be based on informed choice, such decisions should reflect people's values and attitudes. This prospective study compares the attitudes and other cognitive predictors of screening uptake in two contexts: when conducted as part of a routine visit and when it is conducted at a separate, test-specific visit. It was conducted in two hospitals in England, differing in method of screening organisation. 1499 pregnant women offered serum screening for Down Syndrome completed a questionnaire assessing theory of planned behaviour constructs: attitude towards undergoing the test, subjective norms of others, perceived behavioural control and intention to undergo the test.

Intention predicted screening uptake in both screening settings, but more strongly when screening was part of a routine visit. Perceived behavioural control was not predictive of uptake, and only weakly predictive of intention in both settings. Subjective norm predicted intention more strongly when it referred to partner and friends than when it referred to health professionals, in both settings.

Attitude was more strongly predictive of intention to attend screening when screening was organised as a part of routine screening, rather than requiring a separate visit. These results suggest that offering a screening test at a routine visit compared with a separate visit is more likely to facilitated uninformed choices, given the stronger association between attitudes and intention and the absence of an association with the perceived influence of health professionals.     

Communication Between Breast Cancer Patients Who Received Inconclusive Genetic Test Results and Their Daughters and Sisters Years After Testing

Inconclusive genetic test results including screening recommendations for the breast cancer patients and their first-degree relatives are the most common outcomes of BRCA 1/2 testing. Patients themselves should communicate these results to their relatives. Our aim was to explore communication of breast cancer genetic counseling results with daughters and sisters over a long period of time. Breast cancer patients, who had received an inconclusive DNA test result 7–14 years earlier, completed a self-report questionnaire. Additionally, in-depth interviews were conducted and analysed thematically. Of the 93 respondents, 85 (91 %) considered themselves responsible for communicating genetic test results to relatives. In-depth interviews (n?=?14) showed, that counselees wanted ‘to hand over’ their responsibilities to communicate the test results and screening recommendations to their sisters. Although most patients had informed their daughters and sisters about the genetic test results, usually little is spoken about genetic test results and screening recommendations once the duty of informing is completed. We recommend that, similar to the procedure for BRCA1/2-mutation carriers, a separate letter for first-degree relatives of patients with an inconclusive test result should be provided. In this way information about risks and screening recommendations can be verified by family members years after genetic testing has been completed.     

Cognitive and affective predictors of academic achievement in schoolchildren

The ability of the theory of planned behaviour to predict objectively measured outcomes was tested in school‐age children. Study 1 (N=71) showed that the theory of planned behaviour accounted for significant proportions of the variance in intention and that the intentions predicted scores in a science test; study 2 (N=175) replicated these effects across a broader range of subjects. In addition, study 2 explored the mechanism by which intention was translated into action and demonstrated that intention stability moderated the intention‐academic achievement relationship. Moreover, controlling for a range of cognitive and affective variables, intention and positive affect were independent predictors of intention stability. These findings suggest that although positive affect did not influence intention directly, it did influence intention stability, the mechanism by which intentions are translated into action. Future educational interventions should therefore influence both cognitive and affective factors to promote sustained motivation.     

Breast Cancer Risk Perceptions among Relatives of Women with Uninformative Negative <Emphasis Type="Italic">BRCA1/2</Emphasis> Test Results: The Moderating Effect of the Amount of Shared Information

The most common result of BRCA1/2 mutation testing when performed in a family without a previously identified mutation is an uninformative negative test result. Women in these families may have an increased risk for breast cancer because of mutations in non-BRCA breast cancer predisposition genes, including moderate- or low-risk genes, or shared environmental factors. Genetic counselors often encourage counselees to share information with family members, however it is unclear how much information counselees share and the impact that shared information may have on accuracy of risk perception in family members. We evaluated 85 sisters and daughters of women who received uninformative negative BRCA1/2 results. We measured accuracy of risk perception using a latent variable model where accuracy was represented as the correlation between perceived risk (indicators = verbal and quantitative measures) and calculated risk (indicators = Claus and BRCAPRO). Participants who reported more information was shared with them by their sister or mother about her genetic counseling session had greater accuracy of risk perception (0.707, p?=?0.000) than those who reported little information was shared (0.326, p?=?0.003). However, counselees shared very little information; nearly 20 % of family members reported their sister or mother shared nothing with them about her genetic counseling. Family members were generally not aware of the existence of a genetic counseling summary letter. Our findings underscore the need for effective strategies that facilitate counselees to share information about their genetic counseling sessions. Such communication may help their relatives better understand their cancer risks and enhance risk appropriate cancer prevention.     

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.