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.     

Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals

Prior to 2013, genetic testing for Ashkenazi Jewish (AJ) individuals primarily consisted of the three-site BRCA1/BRCA2 AJ panel, full sequencing of BRCA1/2, or the Lynch syndrome mismatch repair genes. Multigene panel testing became more widely available in 2013, but limited data are available regarding the impact of multigene panel testing for AJ individuals. Here, we report the frequency of cancer susceptibility gene mutations in a cohort of 427 AJ individuals seen in the Cancer Risk Clinic at The University of Chicago. We found that 29% of affected and 37% of unaffected individuals carried a pathogenic mutation (32% of overall cohort), primarily known familial mutations in BRCA1/2. A minority of mutations were identified in non-BRCA1/2 genes and consisted mainly of AJ founder mutations in CHEK2, APC, and the mismatch repair genes. A panel of AJ founder mutations would have identified the majority (94%) of mutations in clinically actionable genes in both affected and unaffected patients. Based on recent cost-effectiveness studies, offering all AJ individuals a founder mutation panel may be a cost-effective cancer prevention strategy.     

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.     

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.     

Family Environments of Women Seeking BRCA1/BRCA2 Genetic Mutation Testing: An Exploratory Analysis

Although there is some understanding of the shared characteristics and predictors of psychological distress of women participating in hereditary breast and ovarian cancer registries, these same characteristics are only beginning to be identified in research on community women seeking genetic testing for BRCA1/BRCA2 gene mutations. This study provides an initial exploration of characteristics associated with family environments for 51 community women waiting to receive such genetic testing results. Thirty-four of the 36 women classified on family environment type of the Family Environment Scale (FES) were from Personal Growth-Oriented families. Comparisons of women with and without personal cancer histories resulted in a trend for women with personal cancer histories to be classified as from Independence-Oriented families. Reported distress appears to vary for different family emphases based on family and personal cancer history. A moral-religious family emphasis consistently appeared to be associated with decreased psychological distress. Preliminary analyses comparing these community women (who were not part of a hereditary registry but were self- or physician-referred) seeking genetic testing with normal and distressed family means found that increased cohesion and expressiveness may be related to decreased conflict, indicative of potentially supportive family environments for these women. When compared with normative data, a subset consisting of the Ashkenazi Jewish women showed a trend of less cohesion than normal families, but similar cohesion levels as distressed families.     

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial

To increase accessibility to genetics services for low-urgency patients seeking Ashkenazi Jewish (AJ) carrier screening, we designed an interactive computer (IC) module that provides pre-test genetics education and allows genetics professionals to order the test without meeting the patients beforehand. We compared this module with in-person genetic counseling (GC) using a randomized trial. AJ individuals were randomized to undergo genetics education via the IC module (n = 26) or GC (n = 28). We compared post-interventional genetics knowledge, perceived genetic risk, and anxiety between the two groups, after accounting for pre-interventional scores, using ANCOVA. Wilcoxon Rank-Sum test was used to compare post-interventional satisfaction. Post-interventional genetics knowledge, risk perception, or anxiety were not significantly different between the two groups after accounting for baseline scores (p = 0.50–0.54), although the data are inconclusive regarding the module’s non-inferiority at a 5% margin. Post-intervention satisfaction scores were generally higher in the GC group than the IC module group. Our IC module has the potential to improve access to clinical genetics services for patients and staff, but it is not suitable for all AJ patients and cannot completely replace the benefits of in-person consultations.     

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.     

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.     

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.     

Attitudes and Practice of Genetic Counselors Regarding Anonymous Testing for BRCA1/2

Patients and clinicians alike view anonymous testing as a potential way to avoid perceived risks of genetic testing such as insurance and employment discrimination and the potential loss of privacy. To assess their experience with and attitudes towards anonymous testing for BRCA1/2, genetic counselors were invited to complete an internet-based survey via the NSGC Familial Cancer Risk Counseling Special Interest Group (FCRC-SIG) listerv. A majority of the 115 respondents (70%) had received requests from patients for anonymous BRCA1/2 testing at some point in their careers and 43% complied with this request. Most counselors, however, encountered such requests infrequently, 1–5 times per year. Although genetic counselors do not generally encourage anonymous testing and over a third of respondents feel it should never be offered, a substantial subset support its use under specific circumstances. In general, a strong consensus exists among counselors that anonymous testing should not be offered routinely. In light of the current legislative landscape, it is of note that a substantial proportion of respondents (42.7%) cited the threat of life insurance discrimination as a reason for pursuing AT, and fewer cited health insurance (30.0%) or employment discrimination (29.1%) as justifications. Since there exists no federal legislative protections against discrimination by life insurance companies, it makes sense that genetic counselors were more responsive to this issue as opposed to the threat of discrimination in health insurance and employment.     

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.     

To Use or Not to Use: The Prenatal Genetic Technology/Worry Conundrum

We conducted an exploratory, qualitative study investigating the factors influencing the use of genetic counseling and prenatal genetic testing for two groups: pregnant women 35 years of age and over (AMA) at the time of delivery and pregnant women with an abnormal maternal serum triple screen (MSAFP3). The convenience sample consisted of 25 semistructured interviews of women/couples and 50 observations of genetic counseling sessions. Worry turned out to be the most important variable influencing decision making about prenatal genetic testing and was greater in the MSAFP3 group than in the AMA group. The women in the AMA group appeared to assign the risk of having a child with Down syndrome to their age category rather than to themselves individually, whereas, the risk perception for women with an abnormal MSAFP3 appeared to have shifted from a general population risk for pregnant women to an individual, personal risk. There was a general lack of understanding and also more misinformation about the MSAFP3 screen compared to amniocentesis. Women in both groups were torn between fear of an invasive test and worry about the health of their fetus for the rest of their pregnancy if they did not undergo amniocentesis.     

To Act or Not to Act: Nonconsequentialism in Environmental Decision-Making

Research on environmental-decision making is usually based on utilitarian models, which imply that people's decisions are only influenced by the outcomes. This research provides evidence for values and moral positions that reflect nonconsequentialist rather than consequentialist views. In doing this, this article refers to “sacred values,” which are values that are seen as not-substitutable and nontradable. Two studies were designed to examine evidence for sacred values and their role on act versus omission choices within the environmental domain. The studies revealed that sacred values were closely associated with preferences for actions, trade-off reluctance, deontological focus, and position of moral universalism. The results suggest that it is important to account for sacred values and nonconsequentialist views in environmental decision-making research.     

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.     

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.     

To Be or Not to Be: Exploring the Nature of Positively and Negatively Keyed Personality Items in High-Stakes Testing

Including equal numbers of positively and negatively keyed items is common in Five-Factor Model (FFM) personality measures. Much literature has demonstrated the presence of positive and negative keying factors in low-stakes testing situations, but there is a dearth of research investigating these factors in high-stakes testing. To address this gap, we investigated whether an FFM measure used in high-stakes testing was influenced by positive and negative keying factors. We also examined the overlap of the positive and negative keying factors with social desirability, rule-consciousness, acquiescence, and cognitive ability. Confirmatory factor analysis supported the inclusion of distinct factors associated with positively and negatively keyed items and suggested that the keying factors accounted for a substantial portion of variation in responses to FFM items. Social desirability and rule-consciousness were found to have significant relations with both keying factors, whereas acquiescence was only related to the negative keying factor. Implications for the construct validity of FFM measures used in high-stakes testing and directions for future research are discussed.     

Experiences of Women Who Underwent Predictive BRCA 1/2 Mutation Testing Before the Age of 30

This qualitative interview study focuses on the experiences of a sample of British female BRCA 1/2 carriers who had predictive testing before the age of 30, which is the minimum age for breast screening in the UK. Following appropriate informed consent procedures participants were recruited through the Cancer Genetics Service for Wales. Semi-structured interviews were conducted face-to-face with seven participants, transcribed in full and analyzed using thematic analysis. The motives for testing and perceived advantages described by participants were similar to those identified in previous studies with older participants, such as increased awareness and knowledge and feeling more in control. However some of the perceived disadvantages were specific to younger women, including feeling pressured to make important life decisions earlier than they would have liked, such as about family planning and risk reducing surgery. Participants also reported feeling abandoned or forgotten because of lack of ongoing clinical contact, or feeling “stuck waiting” for screening to begin. However, none felt that these disadvantages were a reason to regret having testing. Findings in this small study suggest that having BRCA 1/2 predictive testing can have positive outcomes for young women even though they may be unable to access interventions such as breast screening. However it may be helpful to encourage young women during pre-test counseling to explore the decisions and choices they may face. These young women could benefit from ongoing support and follow up and increased interaction with healthcare professionals.     

To Picture or Not to Picture: Levels of Erotophobia and Breast Self-Examination Brochure Techniques1

People's level of erotophobia influences their acceptance of sexually related situations, including the likelihood of engaging in sexually related health care such as breast self-examinations (BSE). Female college students (n= 61) completed a measure of erotophobia and read a BSE brochure that either did or did not contain instructional photographs showing a woman's breasts. As hypothesized when the brochure contained photographs, women high in erotophobia felt less competent in giving themselves BSE and were less likely to claim that they did things to improve their health. When the brochure contained no photographs, women low in erotophobia thought that the information was easier to understand and that BSE was more important.     

To Pass or Not to Pass: A Mathematical Model for Competitive Interactions in Rugby Union

ABSTRACT. Predicting behavior has been a main challenge in human movement science. An important step within the theory of coordination dynamics is to find out the rules that govern human behavior by defining order parameters and control parameters that support mathematical models to predict the behavior of a system. Models to describe human coordination have been focused on interlimb coordination and on interpersonal coordination in affiliative tasks but not on competitive tasks. This article aims to present a formal model with two attractors to describe the interactive behavior on a 2v1 system in rugby union. Interpersonal distance and relative velocity critical values were empirically identified and were included as task constraints that define the attractor landscape. It is shown that using relative velocity as a control parameter the model offers reasonable prediction concerning the decision-making process. The model has the plasticity to adapt to other settings where interpersonal distances and relative velocities amongst system components act as significant task constraints.