“The Cancer Bond”: Exploring the Formation of Cancer Risk Perception in Families with Lynch Syndrome

This study explores the social context of hereditary cancer risk perception in three families, an African-American family, a Mexican-American family, and a Caucasian family, each with Lynch Syndrome documented by a mismatch repair gene mutation. Communication network assessments measured family communication about cancer experiences and genetic testing information among a total of 26 participants. Participant narratives were evaluated to gain insight into how family cancer experiences and genetic testing information have shaped perceptions of cancer risk. Analysis of communication networks indicated that some families discussed cancer experiences to a greater extent than genetic testing information, and vice-versa. Interviews elucidated that sharing both types of health information led participants to conceptualize linkages among a strong family history of cancer, genetic testing information, and cancer prevention strategies. Understanding how different types of family communication influence the formation of perceived hereditary disease risk may enhance efforts to tailor genetic counseling services for families.     

Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports

There has been very limited study of patients with chronic disease receiving potentially actionable genomic based results or the utilization of genetic counselors in the online result delivery process. We conducted a randomized controlled trial on 199 patients with chronic disease each receiving eight personalized and actionable complex disease reports online. Primary study aims were to assess the impact of in-person genomic counseling on 1) causal attribution of disease risk, 2) personal awareness of disease risk, and 3) perceived risk of developing a particular disease. Of 98 intervention arm participants (mean age = 57.8; 39% female) randomized for in-person genomic counseling, 76 (78%) were seen. In contrast, control arm participants (n = 101; mean age = 58.5; 54% female) were initially not offered genomic counseling as part of the study protocol but were able to access in-person genomic counseling, if they requested it, 3-months post viewing of at least one test report and post-completion of the study-specific follow-up survey. A total of 64 intervention arm and 59 control arm participants completed follow-up survey measures. We found that participants receiving in-person genomic counseling had enhanced objective understanding of the genetic variant risk contribution for multiple complex diseases. Genomic counseling was associated with lowered participant causal beliefs in genetic influence across all eight diseases, compared to control participants. Our findings also illustrate that for the majority of diseases under study, intervention arm participants believed they knew their genetic risk status better than control arm subjects. Disease risk was modified for the majority during genomic counseling, due to the assessment of more comprehensive family history. In conclusion, for patients receiving personalized and actionable genomic results through a web portal, genomic counseling enhanced their objective understanding of the genetic variant risk contribution to multiple common diseases. These results support the development of additional genomic counseling interventions to ensure a high level of patient comprehension and improve patient-centered health outcomes.     

Being at risk for cardiovascular disease: perceptions and preventive behavior in people with and without a known genetic predisposition

This study compares and explains differences in perceptions of cardiovascular disease (CVD) risk and preventive behaviors in people with and without a known genetic predisposition to CVD. A cross-sectional study using two samples was performed. The first sample (genetic predisposition; n?=?51) consisted of individuals recently diagnosed with familial hypercholesterolemia (FH) through DNA testing. The second sample (no genetic predisposition; n?=?49) was recruited among patients with CVD-risk profiles based on family history of CVD, cholesterol levels, and blood pressure, registered at general practices. Participants filled out a postal questionnaire asking about their perceived risk, causal attributions (i.e. genetic and lifestyle), and about perceived efficacy and adoption of preventive behavior (i.e. medication adherence and adoption of a healthy diet and being sufficiently active). Perceived comparative risk, genetic attributions of CVD, and perceived efficacy of medication were higher in the "genetic predisposition" sample than in the "no genetic predisposition" sample. The samples did not differ on lifestyle attributions, efficacy of a healthy lifestyle, or preventive behavior. Individual differences in perceived risk, genetic attributions, perceived efficacy of medication, and adoption of a healthy lifestyle were best explained by family history of CVD. Our findings suggest that in people diagnosed with a single gene disorder characterized by a family disease history such as FH, family disease history may be more important than DNA information in explaining perceptions of and responses to risk.     

Psychosocial Factors Associated with Quality of Life Among Individuals Attending Genetic Counseling for Hereditary Cancer

The aim of this multicenter study was to explore associations between psychosocial factors (general self-efficacy, perceived availability of social support, cancer-related distress) and health-related quality of life, among individuals at risk for hereditary cancer. One-hundred and twenty one participants with a family history of breast-cancer or colorectal cancer answered a questionnaire 2-4 weeks prior to genetic counseling. The two dimensions of the health-related quality of life measure, mental and physical health were both used as outcome variables. Multiple regression (linear) analyses revealed that increasing degrees of cancer-related distress was related to decreasing degrees of mental health whereas increasing degrees of self-efficacy and social support were related to increasing degrees of this outcome variable. Self-efficacy, self-esteem support and tangible aid seemed to moderate the relationship between cancer-related distress and mental health. These results suggest that self-efficacy and certain resources of social support buffer the negative association between cancer-related distress and mental health, and might be suitable for interventional efforts. Implications for genetic counseling practice are discussed.     

Preferences Regarding Targeted Education and Risk Assessment in People with a Family History of Major Depressive Disorder

Genetic testing for susceptibility to major depressive disorder (MDD) is not available for clinical use at present. Given this, family history remains the best predictor for development of MDD, and family-history-based risk assessment and information about familial aspects of MDD may be useful to clients at increased risk for MDD attending for genetic counseling. This study uses a mixed-methods design to assess the information needs and preferences of people at increased familial risk for MDD. Telephone interviews were conducted with 23 individuals, who had at least one first-degree relative with MDD and were recruited through advertisements placed on depression education websites. The most preferred way to access depression information was via the internet (87 % of participants), although this preference may have been due to the internet-based recruitment method. The second most preferred dissemination strategy (56 %) was face-to-face delivery through a health professional, including genetic counselors. Individuals reported a need for information about etiology and development of MDD, reproductive decision-making, early detection of symptoms and risk-reducing strategies. Nearly all participants expressed an interest in risk assessment. The present study found evidence of a high level of interest for information targeted to people at increased familial risk for MDD. Genetic counselors are likely to be called upon increasingly to provide supportive counseling to assist clients at increased familial risk in interpreting and contextualizing such information once it becomes available.     

Is elevated risk of child maltreatment in immigrant families associated with socioeconomic status? Evidence from three sources

In this study we tested whether children from Dutch‐immigrant families are at increased risk for maltreatment, and if so, what factors could explain this risk. Three data sources from the second Netherlands Prevalence Study of Maltreatment of Youth (NPM‐2010) were used to answer these questions. First, 1127 professionals from various occupational branches (sentinels) were asked to report each child (including some background information on the child and family) for whom they suspected child maltreatment during a period of three months. Second, we included the 2010 data from the Dutch Child Protective Services and third, 1759 high school students aged 11–17 years filled out a questionnaire on their experiences of maltreatment in the past year. We found that children from traditional immigrant families with a relatively long migration history in the Netherlands (Turkish, Moroccan, Surinamese, and Antillean) and from nontraditional immigrant families (African [except Morocco], Eastern European, Central Asian, and South and Central American; often refugees) were at increased risk for child maltreatment compared to native Dutch families. However, in the professionals’ and CPS data this risk disappeared for the traditional immigrant families after correction for educational level of the parents and for step‐parenthood. Within the group of families with low education or step‐parents, the risk for child maltreatment was similar for traditional immigrant families as for native Dutch families. Nontraditional families remained at increased risk after correction for sociodemographic and family factors. In conclusion, we found that children from both traditional and nontraditional immigrant families are at increased risk for maltreatment as compared to children from native Dutch families. For the traditional immigrants this risk could partially be explained by socioeconomic status. This implies that socioeconomic factors should be taken into account when outlining policies to fight child maltreatment.     

Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population

Communicating personalized genomic risk results for common diseases to the general population as a form of tailored prevention is novel and may require alternative genetic counseling service delivery models. We describe the development and evaluation of a communication protocol for disclosing melanoma genomic risk information to the asymptomatic general population and assess participants’ satisfaction and acceptability. Participants (n?=?117) were aged 22–69 years, living in New South Wales, Australia and unselected for family history. They provided a saliva sample and had genomic testing for melanoma for low to moderate penetrant melanoma susceptibility variants in 21 genes. Participants could choose to receive their results from a genetic counselor via telephone, followed by a mailed booklet or to receive their risk result via mailed booklet only with a follow-up call for those at high risk. A follow-up questionnaire was completed by 85% of participants 3-months later. Most participants (80%) elected to receive their result via telephone. Participants were highly satisfied with the delivery of results (mean 3.4 out of 4, standard deviation 0.5), and this did not differ by delivery mode, risk category, age or sex. On follow-up, 75% accurately recalled their risk category, 6% indicated a preference for a different delivery mode, either electronic or face-to-face. The process of disclosing genomic risk results to the general population over the telephone with accompanying written material was feasible and acceptable, and may be useful for communicating polygenic risk for common diseases in the context of increasing demands for genomic testing.     

Perceptions of Familial Risk in those Seeking a Genetic Risk Assessment for Alzheimer’s Disease

Perceived risk is a complex concept that influences the genetic counseling process and can affect client coping and behavior. Although the association between family history and risk perception is well recognized in the literature, no studies have explored this relationship specifically in those seeking genetic susceptibility testing for a common chronic condition. REVEAL is a randomized trial assessing the impact of APOE disclosure and genetic risk assessment for Alzheimer’s disease (AD). Using baseline REVEAL data, we hypothesized that there would be a significant association between the degree of AD family history and risk perception of AD, and that this relationship would be stronger in those who believed that genetics is a very important AD risk factor. In our sample of 293 participants, we found that a higher self-perceived risk of AD was associated with strength of family history of AD (p < 0.001), belief in genetics as an important AD risk factor (p < 0.001), being female (p < 0.001) and being Caucasian (p = 0.02). These results are the first to demonstrate the association between family history and risk perception in persons volunteering for genetic susceptibility testing for a common complex disease.     

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.     

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.     

Family History of Pancreatic Cancer in a High-Risk Cancer Clinic: Implications for Risk Assessment

Detailed family history is a critical element of cancer risk assessment. The relative importance of pancreatic cancer (PC) in a close family member, particularly in hereditary breast-ovarian syndrome (HBOS), is not clearly defined. We use a case-control design to investigate the importance of a family history of PC to cancer risk assessment. Case and control families were identified from the University of Chicago Cancer Risk database (1994–2005). Pedigrees were analyzed for personal and familial clinical cancer data. Cases included all new subjects (probands) reporting a close relative (first or second degree) with PC. Controls included the probands enrolled in the database immediately prior to and subsequent to each case (i.e. two controls for each case). From 1,231 pedigrees, 103 PC were reported by the proband in 87 unique families. Many probands reported multiple or early-onset PCs: one third (28/87) of case families met criteria for a familial PC syndrome [≥2 first-degree relatives with PC (n = 10) or PC diagnosed ≤50 (n = 18)]. Of these families, the majority (75%) concurrently met criteria suggestive of hereditary breast-ovarian syndrome (HBOS). Because of a family history consistent with HBOS, at least one individual from each of 29 case and 55 control families underwent genetic testing for BRCA1/2. Among case families, 19 of 29 (66%) had a BRCA1/2 mutation compared with 16 of 55 (29%) controls. A significant association between family history of PC and a BRCA1/2 mutation was seen (OR 3.78, 1.32–10.9). This point estimate was strengthened but less precise in the non-Ashkenazi Jewish subset of tested families (OR 6.03, 1.68–22.14). In a high-risk population, a family history of PC, though infrequently reported, is nonetheless clinically meaningful. In risk assessment for HBOS, identifying a family history of PC should strongly raise the suspicion of an unrecognized BRCA1/2 mutation.     

Family Communication in Inherited Cardiovascular Conditions in Ireland

Over 100,000 individuals living in Ireland carry a mutated gene for an inherited cardiac condition (ICC), most of which demonstrate an autosomal dominant pattern of inheritance. First-degree relatives of individuals with these mutations are at a 50 % risk of being a carrier: disclosing genetic information to family members can be complex. This study explored how families living in Ireland communicate genetic information about ICCs and looked at the challenges of communicating information, factors that may affect communication and what influence this had on family relationships. Face to face interviews were conducted with nine participants using an approved topic guide and results analysed using thematic analysis. The participants disclosed that responsibility to future generations, gender, proximity and lack of contact all played a role in family communication. The media was cited as a source of information about genetic information and knowledge of genetic information tended to have a positive effect on families. Results from this study indicate that individuals are willing to inform family members, particularly when there are children and grandchildren at risk, and different strategies are utilised. Furthermore, understanding of genetics is partially regulated not only by their families, but by the way society handles information. Therefore, genetic health professionals should take into account the familial influence on individuals and their decision to attend genetic services, and also that of the media.     

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.     

Differences between informants about type a,anger, and social support and the relationship with blood pressure

Abstract

In a study on the influence of different natural environments on self-perception and that of significant others, behavioral manifestations of Type A, Anger, and Social Support were assessed. It was hypothesized that due to different environmental demands, participants will be perceived as displaying differences in Type A behavior, anger, and social support at home and at work. Participants were 45 university employees, constituting a convenience sample. Assessment included Type A Structured Interview scores of participants and questionnaire scores for Type A, anger, and social support of participants who were also evaluated by their spouses and work supervisors. Other risk factors for coronary heart disease (i.e., blood pressure, smoking, previous heart condition, being sedentary, and family history) and their relationships with Type A, anger, and social support were also examined.

Participants and spouses agreed significantly on all measures, whereas participants and work supervisors agreed only on Type A behavior. Spouses' and work supervisors' evaluations of the participants' behavior were not or only marginally associated. Multiple regression analysis showed that the level of disagreement between the different informants with respect to Type A and social support were associated with elevated blood pressure. These results suggest that the perception of Vpe A behavior, anger, and social support may be situationally determined.     

High Behavioral Approach System (BAS) sensitivity, reward responsiveness, and goal-striving predict first onset of bipolar spectrum disorders: a prospective behavioral high-risk design

A prospective, behavioral high-risk design provided a theoretically guided examination of vulnerability to first onset of bipolar spectrum disorder based on the Behavioral Approach System (BAS) model. Adolescents (ages 14-19) at an "age of risk" for bipolar disorder onset were screened on BAS sensitivity by interviewers blind to current symptoms, lifetime history, and family history of psychopathology. Participants were selected with high versus moderate levels of BAS sensitivity and administered a lifetime diagnostic interview. Those with a bipolar spectrum disorder, psychosis, or hypomanic episode with onset prior to the BAS sensitivity assessment were excluded. High BAS (n = 171) and moderate BAS (n = 119) sensitivity participants in the final sample completed baseline measures of symptoms, goal-setting, and reward responsiveness and were followed prospectively with semistructured diagnostic interviews every 6 months. Consistent with the vulnerability hypothesis of the BAS model of bipolar disorder, high BAS participants had a greater likelihood, and shorter time to onset, of bipolar spectrum disorder than moderate BAS participants across an average of 12.8 months of follow-up (12.9% vs. 4.2%), controlling for baseline depressive and hypomanic symptoms, and family history of bipolar disorder. High reward responsiveness on a behavioral task and ambitious goal-striving for popular fame and financial success (but not impulsivity) also predicted first onset of bipolar spectrum disorder controlling for the covariates and BAS risk group, and ambitious goal-striving partially mediated the BAS risk group effect. We discuss implications of the findings for the BAS model of bipolar disorder and early intervention efforts.     

The Effectiveness of Family History Questionnaires in Cancer Genetic Counseling

The number of individuals receiving genetic counseling for hereditary breast and ovarian cancer syndrome has steadily risen. To triage patients for genetic counseling and to help reduce the amount of time needed by a genetic counselor in direct patient contact, many clinics have implemented the use of family history questionnaires. Although such questionnaires are widely used, scant literature exists evaluating their effectiveness. This article explores the extent to which family history questionnaires are being used in Ontario and addresses the utility of such questionnaires in one familial cancer clinic. By comparing the pedigrees created from questionnaires to those updated during genetic counseling, the accuracy and effectiveness of the questionnaires was explored. Of 121 families recruited into the study, 12% acquired changes to their pedigree that led to a revised probability estimate for having a BRCA1 or BRCA2 mutation and 5% acquired changes that altered their eligibility for genetic testing. No statistically significant difference existed between the eligibility for genetic testing prior to and post counseling. This suggests that family history questionnaires can be effective at obtaining a family history and accurately assessing eligibility for genetic testing. Based on the variables that were significantly associated with a change in probability estimate, we further present recommendations for improving the clarity of such questionnaires and therefore the ease of use by patients.     

Acceptance of Genetic Counseling and Testing in a Hospital-Based Series of Patients with Gynecological Cancer

Referral of patients with endometrial (EC) and/or ovarian cancer (OC) for genetic counseling is based on age at diagnosis and family history. Many patients with hereditary cancers are missed by following this strategy. We determined acceptance and mutation detection rate of offering genetic counseling and testing to unselected EC and OC patients. Therefore, in 2007, EC and OC patients were invited for genetic counseling and testing. Patients were asked for their reasons to accept or decline. Nineteen out of fifty-two EC patients (36 %) and twenty-two out of thirty-five OC patients (63 %) accepted genetic counseling, mainly to receive risk assessment for themselves and relatives. Counseling was declined mainly because patients did not want more tests or had no relatives for whom it was relevant. Eighteen out of nineteen EC patients (95 %) and twenty out of twenty-two OC patients (91 %) underwent genetic testing. One EC patient carried an MSH6 mutation (mutation detection rate: 6 %). BRCA1/2 mutations were found in two out of twenty OC patients (10 %). Eleven patients (29 %) received surveillance recommendations for themselves and their relatives. Finally, family history recorded by the gynecologist was compared to that taken by the clinical geneticist. Gynecologists reported family history in ten out of forty-one participants (24 %). In conclusion, genetic counseling and testing are acceptable to patients with OC and/or EC. The 10 % BRCA1/2 mutation detection rate and underreporting of family history by gynecologists warrant referral for genetic counseling for all OC patients, followed by BRCA1/2 testing if indicated. We recommend that microsatellite instability and immunohistochemical analysis be performed in all EC patients, followed by genetic counseling if appropriate. These strategies will lead to better cancer prevention in gynecological cancer patients and their relatives.     

Cancer Genetic Counselees’ Self-Reported Psychological Distress, Changes in Life, and Adherence to Recommended Surveillance Programs 3–7 Years Post Counseling

The aim of the present cross-sectional study was to investigate psychological distress, changes in life, adherence to surveillance programs and satisfaction with cancer genetic counseling based on Swedish participants’ self-reported data. A total of 218 probands (72% response rate) affected by breast, breast/ovarian or colorectal cancer and/or a family history of cancer were surveyed 3–7 years after receiving cancer genetic counseling. Participants reported a relatively high level of anxiety and a low level of depression. Probands affected by colorectal cancer reported a higher level of depression than did non-affected individuals with a family history of colorectal cancer. Overall, the participants reported moderate changes in family relations, priorities and appreciation of daily life activities. The majority of at-risk probands reportedly adhered to recommended surveillance programs. The mean level of satisfaction with cancer genetic counseling was high. About half of the participants would have accepted additional counseling sessions, contact with a psychologist or further help concerning informing family members. The present results indicate no adverse effects of genetic counseling, but they do suggest that typical counseling procedures could be improved by provision of additional psychosocial support.     

Making the Decision to Participate in Predictive Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy

This paper describes the experience of predictive genetic testing for Arrhythmogenic Right Ventricular Cardiomyopathy in the context of novel gene discovery. Two approaches to making the decision to engage in genetic testing were apparent: the decision to be tested either (a) develops gradually over time or (b) happens so quickly that it is felt as a “fait accompli.” Six key factors that influenced the particular approach taken by the participants were identified: (1) scientific process—available and relevant predictive genetic test; (2) numerous losses or deaths within the family; (3) physical signs and symptoms of disease; (4) gender; (5) sense of relational responsibility or moral obligation to other family members; and (6) family support. This study found that at risk individuals juxtapose scientific knowledge against their experiential knowledge and the six identified factors in order to make the decision to participate in genetic testing. Recommendations include the creation of a relational space within which to provide psychological counselling and assessment for the six identified factors that shape the decision to engage in predictive genetic testing.