Uptake of Cardiac Screening and Genetic Testing Among Hypertrophic and Dilated Cardiomyopathy Families

Cardiomyopathy is a genetically and clinically heterogeneous, life threatening disease which affects people of all ages. Recent guidelines provide recommendations for cardiac screening and genetic testing in at-risk relatives, but the uptake and impact of these measures in the United States is unknown. This is a single institution retrospective study that characterizes the uptake of cardiac screening and genetic testing for relatives of a cohort of 57 probands with hypertrophic (HCM) and dilated cardiomyopathy (DCM) who underwent both clinical evaluation and genetic testing. Cardiac screening was indicated for 302 relatives. One hundred and seventy-three (57 %) completed cardiac screening. Forty of the 57 probands were mutation positive and genetic testing was indicated for 213 relatives. Eighty-four (39 %) completed genetic testing. The uptake of cardiac surveillance was greater than the uptake of genetic testing (p?<?0.0001) among relatives of mutation positive probands. Within the group of at-risk, asymptomatic relatives of probands, cardiac screening and genetic testing were positive in 25 % and 40 % of cases, respectively. These data demonstrate the important role and utility of cascade cardiac screening and genetic testing in the care of patients and families with HCM or DCM. The approach to cardiac screening and genetic testing should be family-specific and requires expertise in the genetics of cardiomyopathy.     

Provision of Genetics Services on Guam

Guam’s geographic isolation and lack of community resources have resulted in unique healthcare needs. In 2006, the Western States Genetic Services Collaborative (WSGSC) conducted a genetics needs assessment and found that professional development is limited, families lack access to genetic services, and improved coverage of genetic testing is needed. With funding from the WSGSC, a Guam genetics outreach clinic was established and staffed by genetic counselors and a medical geneticist from Hawaii. Four clinics have been held to date. Although several challenges have been encountered, including minimal coverage of genetic testing by Guam insurance companies, limited referrals for families with private insurance, and inappropriate referral indications, the outreach clinic has been successful at increasing access to genetic services and improving professional development. With more collaborative work by staff from Guam, Hawaii, and the WSGSC, provision and reimbursement of genetic services and testing will continue to improve.     

Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy

Families with a history of hypertrophic cardiomyopathy (HCM) may be offered genetic testing in addition to clinical surveillance. Asymptomatic family members who are gene positive (silent gene carriers) represent a new group of “patients” who may not develop HCM, with little evidence available to assist clinical management. This study explored experiences of HCM genetic testing to identify potential benefits and harms. Thirty-two individuals previously offered genetic testing for HCM were recruited. Semi-structured interviews were conducted face-to-face or by phone, and transcribed audio-recordings were coded using framework analysis. Key themes were as follows: (1) helping the next generation, (2) misunderstanding risk, (3) discrepancy between actual/perceived impact. Participants described multiple psychological (shock, worry, uncertainty) and behavioural (career, sport, insurance, family planning) consequences, depending on perceived risk. Most considered only the benefits of genetic testing for children or grandchildren, but there were some cases of significant adverse impact. The interpretation of the HCM genetic test result is variable for silent gene carriers and can lead to psychological and behavioural changes. The impact of a positive gene result may be mitigated by increased clarity of the clinical consequences and efforts to ensure informed decision-making, highlighting even further the important role of cardiac genetic counselling.     

Factors Associated with Engagement in Family Therapy

Thirty-eight families who continued in conjoint family therapy were compared on a variety of antecedent variables to 13 families who dropped out. Three potentially important predictors of continuance in family therapy were found: (a) which spouse initiated the search for treatment; (b) the level of authoritarianism in the spouses; and (c) family socioeconomic status. Families that dropped out of treatment tended to be of lower socioeconomic status and contained spouses who had more highly authoritarian attitudes as measured by the California F Scale ( 1 ). Families that contained a severly disturbed member had a poor rate of engagement in treatment, but if both spouses in such a family were low in authoritarianism, the engagement rate was 100 per cent. When both spouses initiated the search for treatment, engagement was also nearly perfect. The difficulty in engaging families from the lowest socio-economic class may be attributed partly to the authoritarian attitudes of the husband.     

Factors Associated with Transposition Behavior of Preschool Children

To assess ideas, derived from a contextual paradigm, stressing the influence of adolescents' perceptions of the physical and social components of their school environment on their self-esteems and academic performances, 183 black early adolescents (mean age = 12.1 years, SD = .5 years; 54.6% female) were administered five semantic differential scales. The first provided a measure of self-esteem, while the remaining four provided measures of perceptions of the social environment of the school (i.e., of peers and of teachers) and of the physical environment of the school (i.e., of the classroom and of the school building). There were few systematic sex differences in responses to the scales. As predicted, school environment perceptions were significantly related to self-esteem in both males and females. However, although self-esteem and a report of grade point average, as a measure of academic performance, were significantly related, there was no relation between school environmental perceptions and reported grade point average.     

Billing for Medical Genetics and Genetic Counseling Services: A National Survey

In January 2007 the American Medical Association added a new Current Procedural Terminology® (CPT) code, 96040, for “Medical Genetics and Genetic Counseling Services.” In order to identify the impact of having this new code and to identify issues with implementation of the code, the National Society of Genetic Counselors (NSGC) CPT® Working Group surveyed NSGC members using an internet-based survey tool. The majority of respondents (94%) reported being aware of the new code and over half of the respondents (69%) said they were billing for genetic counseling. Approximately 24% of those billing reported using 96040. Many facilities are not using this code and the reported success of billing using 96040 is highly varied. Continued education may be beneficial to encourage reimbursement for 96040 and follow up is needed to assess the ongoing implementation and impact of the new CPT® code.     

Factors Associated with Providers’ Work Engagement and Burnout in Homeless Services: A Cross‐national Study

The complexity of homeless service users’ characteristics and the contextual challenges faced by services can make the experience of working with people in homelessness stressful and can put providers’ well‐being at risk. In the current study, we investigated the association between service characteristics (i.e., the availability of training and supervision and the capability‐fostering approach) and social service providers’ work engagement and burnout. The study involved 497 social service providers working in homeless services in eight different European countries (62% women; mean age = 40.73, SD = 10.45) and was part of the Horizon 2020 European study “Homelessness as Unfairness (HOME_EU).” Using hierarchical linear modeling (HLM), findings showed that the availability of training and supervision were positively associated with providers’ work engagement and negatively associated with burnout. However, results varied based on the perceived usefulness of the training and supervision provided within the service and the specific outcome considered. The most consistent finding was the association between the degree to which a service promotes users’ capabilities and all the aspects of providers’ well‐being analyzed. Results are discussed in relation to their implications for how configuration of homeless services can promote social service providers’ well‐being and high‐quality care.     

Factors Associated with Perceived Paternal Involvement in Childrearing

Interest in paternal involvement in child care has increased as the demands on the time and resources of maternal caretakers have increased. The purpose of the present study was to examine variables associated with perceived paternal involvement in child care. Participants were 137 (90 European American and 47 African American) fathers of children between the ages of 2 and 6. Hierarchical multiple regression and analyses of variance indicated that ethnicity, gender role orientation, and perceived skill at child care were associated with higher levels of perceived paternal engagement in and responsibility for child care. Partners' work status was associated with perceived paternal responsibility for, but not engagement in child care. Data suggest that fathers' perceptions of their abilities, gender role, and family requirements may combine to influence child care involvement.     

Factors Associated with Functional Dependence in Alzheimer's Disease

The purpose of this study was to determine whether common geriatric conditions, family function, and nutritional problems have independent associations with functional dependence beyond the effect of cognitive impairment in patients with Alzheimer's disease. It was found that some common geriatric conditions affecting patients with Alzheimer's disease appear to have multiple and differential relationships with specific instrumental activities of daily living (IADLs) dependency. These results have implications for medical care. Preventing one condition may not be sufficient to prevent further IADL dependences because the conditions are independently related to individual outcome variables. Thus, multiple conditions may need to be managed concurrently if further functional dependence is to be expected.     

Psychological Factors Associated with Support for Suicide Bombing in the Muslim Diaspora

A robust literature on ingroup versus outgroup conflict suggests that perceived discrimination may be an important factor in intergroup aggression. Yet, to date, no studies have tested the hypothesis that the perception of being the victim of anti‐Muslim discrimination might be associated with support for anti‐Western political violence. We undertook an analysis of two Pew Global Attitudes Surveys: (1) a 2006 data set surveying 1,627 adult Muslim residents of Great Britain, France, Germany, and Spain and (2) a 2007 data surveying 1,050 adult Muslim residents of the United States. Our analyses support the conclusions that younger age and perceived discrimination are both associated with support of suicide bombing in these Muslim diaspora populations. Study 1 found that a bad experience of discrimination increased the odds of justifying suicide bombing among European Muslims by a factor of 3.4. Study 2 found that experienced discrimination was associated with justification of suicide bombing among American Muslims. If further investigations confirm that perceived discrimination is a risk factor for support for political violence, initiatives to reduce discrimination would theoretically reduce the risk of terrorism. We discuss the challenge of breaking the vicious cycle of intergroup prejudice and radicalization.     

Underutilization of Genetics Services for Autism: The Importance of Parental Awareness and Provider Recommendation

Reasons for the underutilization of genetics services by families of children with autism spectrum disorders (ASD) are not well understood. We report the identification of factors associated with this underuse. Survey-based study of parents and/or guardians of children with ASD. One hundred fifty-five families completed the questionnaire. Thirty-one of 155 (20%) children had seen a genetics professional. Forty-nine of 154 (32%) children had undergone genetic testing. Parents whose child saw a genetics professional were more likely to 1) Have a primary provider refer for or suggest a genetics evaluation 2) Have asked for a referral, and/or 3) Know another person with a genetic cause of ASD. amilies of children with ASD who have not received genetics services are less aware of their availability and utility. They are also less likely to have their provider recommend a clinical genetics evaluation. Efforts should be taken to increase awareness of both health providers and parents regarding the usefulness of genetics services for ASD.     

影响全子宫切除术施术途径选择的因素的初步分析

通过回顾分析（n=1238）和电话问卷调查（n=864），分析子宫切除术手术途径（开腹、腹腔镜、阴式）选择有关的因素，并探讨其在决策过程中的作用。结果发现，疾病本身的特点是影响手术途径选择的最主要因素。如果有备选途径，医师的偏好成为重要的抉择因素。患者在决策过程中的作用除受医师影响外，还受医疗费用支付方式制约。伤口美观和术后恢复快是腹腔镜子宫切除术患者选择该途径的主要原因。     

影响全子宫切除术施术途径选择的因素的初步分析

通过回顾分析(n=1 238)和电话问卷调查(n=864),分析子宫切除术手术途径(开腹、腹腔镜、阴式)选择有关的因素,并探讨其在决策过程中的作用.结果发现,疾病本身的特点是影响手术途径选择的最主要因素.如果有备选途径,医师的偏好成为重要的抉择因素.患者在决策过程中的作用除受医师影响外,还受医疗费用支付方式制约.伤口美观和术后恢复快是腹腔镜子宫切除术患者选择该途径的主要原因.     

Impediments to DNA Testing and Cascade Screening for Hypertrophic Cardiomyopathy and Long QT syndrome: A Qualitative Study of Patient Experiences

This paper reports data from a qualitative study of patient experiences of DNA testing and cascade screening for hypertrophic cardiomyopathy and long QT syndrome, cardiac conditions that place sufferers at risk of sudden death. The paper particularly focuses on potential impediments to testing and screening. Semi-structured interviews were undertaken with a purposive sample of 27 people in the UK who had undergone testing. In the context of the uncertainties that can characterize experiences of these disorders, the majority of participants in this sample embraced testing and screening as a way of providing health information for themselves or their relatives (particularly children). There was nevertheless evidence of ambivalence about the value and impact of the DNA test information which could influence participants’ dispositions toward testing, and play into dilemmas about family communication. Other concerns arose in relation to communicating about these disorders, decisions to involve elderly relatives and pressures relating to family responsibility. The evidence of ambivalence provides insight into why some people may be resistant to testing, screening and sharing information. The findings about communication processes indicate potential areas of concern for the cascading process.     

Sex Differences in Psychological Factors Associated with Social Discounting

The social discounting paradigm is a powerful means of quantifying altruism in humans, who are typically willing to forgo some amount of personal earnings in exchange for increased earnings for another person. The amount of money that people are willing to forgo decreases with increasing social distance. In this study, we examined variables related to sex, intolerance of uncertainty, and empathy, all of which are theorized to affect the social discounting rate. Participants (27 men and 28 women) completed measures of intolerance of uncertainty, empathy, and social discounting. We found sex differences in psychological predictors of social discounting: in women, empathy (but not intolerance of uncertainty) predicts the social discounting rate, while in men, social discounting is associated with intolerance of uncertainty (but not empathy). Possible neurobiological, social, and cognitive explanations for this sex difference are discussed. Copyright © 2015 John Wiley & Sons, Ltd.     

Factors Associated with Relationship Satisfaction: Importance of Communication Skills

The present study aimed to investigate the association between communication skills and relationship satisfaction, after having controlled for some other important associates of relationship satisfaction, such as attachment styles and various problem-solving skills including sense of control, confidence, and attitudes of approach-avoidance. One-hundred-forty-two university students who were either currently involved in a romantic relationship, or who had a romantic relationship in the past participated in this study. As a result of hierarchical regression analysis consistent with the expectations, having secure attachment style and high self-confidence on possessed problem-solving abilities were found to be associated with the relationship satisfaction. Moreover, after controlling for the variance accounted for by these variables communication skills were still found to be associated with the relationship satisfaction. Findings were discussed in the light of the relevant literature.     

Factors Associated with Support for Adolescent Access to Contraception Among Mexican Catholic Parents

Journal of Religion and Health - We used a nationally representative survey of 2186 Mexican Catholic parents to assess two outcomes: support for adolescent access to modern contraception and...     

Genetic Counseling for Personal Genomic Testing: Optimizing Client Uptake of Post-Test Telephonic Counseling Services

The field of genetic counseling faces a broad challenge: many potential clients may not be aware of the value and benefit of genetic counseling services, and therefore may not utilize those services. Navigenics is a personal genomic testing company that provides telephonic genetic counseling services for multifactorial diseases and pharmacogenetics. When first offered in 2008, utilization of the Navigenics genetic counseling service was less than expected. To explore the basis for under-utilization and potential mechanisms for increasing uptake, Navigenics initiated a quality improvement study, in which three different methods of engaging clients in the uptake of genetic counseling services were assessed over the course of 1 year. Outcomes showed significant differences in uptake rates between methodologies (7.5%, 24.6%, and 60.1%), yielding an 8-fold increase in service utilization when post-test telephonic outreach to all clients was performed. Further, utilization spanned all risk levels based on client results, evidence that not only clients with high-risk results were motivated to engage in the genetic counseling service. This research indicates that implementing strategies to educate clients about genetic counseling can positively impact client engagement and utilization of available services.     

Intrapersonal and Ecodevelopmental Factors Associated with Smoking in Hispanic Adolescents

We examined how relationships among intrapersonal (i.e., attitudes and beliefs about smoking) and ecodevelopmental (i.e., family, school, and peer) factors influence risk for lifetime smoking in immigrant Hispanic adolescents. Our sample was comprised of 223 immigrant Hispanic adolescents and their families and was drawn from 3 middle schools in a single school district. Data collected is a result of adolescent and parent completed questionnaires as well as county school data (i.e., GPA, teacher reported effort and conduct, absences). Results indicated only poor school functioning, peer smoking, and lack of perceived harm concerning smoking were directly related to adolescent lifetime smoking. Poor school functioning and peer smoking mediated the relationship between family functioning and adolescent smoking. Implications of these results for the design of smoking preventive interventions for immigrant Hispanic adolescents are discussed.