Intentions to use predictive testing by those at risk for Huntington's disease: Implications for prevention

Huntington's disease (HD) is a late onset, genetic disorder that is incurable and undetectable until the onset of symptoms. A marker for the gene that causes HD was recently discovered which will lead to a predictive test. The purpose of this research was to assess the knowledge, attitudes, beliefs, and behavioral intentions concerning the impending predictive test by those at risk for HD. Results indicated that a majority of participants favored using the test presymptomatically and would encourage their adult children to use it as well. Fewer participants favored using the predictive test prenatally or on minors. Characteristics that best differentiated those who intend and do not intend to use predictive testing were identified and discussed. Suggestions for interventions were presented with an emphasis on outreach and prevention programs designed to prepare HD families for the difficult decisions the predictive test will precipitate and the subsequent impact of those decisions.     

Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors

Huntington disease (HD) is an autosomal dominant, progressive neurodegenerative disorder for which there is no cure. Predictive testing for HD is available to asymptomatic at-risk individuals. Approximately half of the population undergoing predictive testing for HD consists of young adults (≤35 years old). Finishing one’s education, starting a career, engaging in romantic relationships and becoming a parent are key milestones of young adulthood. We conducted a qualitative study to explore how testing gene-positive for HD influences young adults’ attainment of these milestones, and to identify major challenges that pre-symptomatic young adults face to aid the development of targeted genetic counseling. Results of our study demonstrate that 1) knowing one’s gene-positive status results in an urgency to reach milestones and positively changes young adults’ approach to life; 2) testing positive influences young adults’ education and career choices, romantic relationships, and family planning; 3) young adults desire flexible and tailored genetic counseling to address needs and concerns unique to this population. Findings of this study contribute to the understanding of the impact of predictive testing for HD on young adults, and highlight issues unique to this population that call for further research, intervention and advocacy.     

Presymptomatic testing for huntington diseases: Recommendations for counseling

The discovery of a genetic marker linked to the Huntington disease (HD) gene made it possible to perform presymptomatic genetic testing for this late onset disorder. The first two pilot research programs in the United States, at Massachusetts General Hospital and Johns Hopkins Hospital, began offering testing in the Fall of 1986. Twenty-three centers are now offering this testing as part of their clinical service. As testing for this and other late onset diseases becomes more widespread, it is important to assess what we have learned about offering this test to those at risk. This article presents recommendations based on the author's 5 years of experience offering presymptomatic testing for HD in order to alert counselors to the complexities of offering this type of service.     

Why won’t they participate? Barriers to participation in worksite health promotion programmes

Research suggests that worksite health promotion (WHP) programmes, and specifically health risk assessment (HRA) surveys and health education workshops, can be effective in enhancing employees’ health. However, 50–75% of employees choose not to participate when offered the opportunity to do so. The reasons for nonparticipation and the characteristics of nonparticipants have largely been overlooked. Building on premises of Conservation of Resources (COR) theory, we hypothesize that nonparticipation results from lack or loss of resources, or from the perceived low value of resources. These barriers to participation are expected to be related to employees’ characteristics and beliefs (termed implicit barriers) and reflected in employees’ self-reported reasons for nonparticipation (termed explicit barriers). We surveyed a large random sample of participants and nonparticipants in a WHP programme (n = 1926 employees), which included two steps: a HRA survey and a health education workshop. Participants completed an anonymous web-based questionnaire. Implicit and explicit barriers that reflect resource availability (e.g., age, health status) and valuation (e.g., low value of making a lifestyle change) were identified. The magnitude and nature of these barriers differed between the HRA survey and the workshop. We discuss how future research on WHP programmes can build on these findings and propose practical implications for reducing nonparticipation.     

What Do We Tell the Children? Contrasting the Disclosure Choices of Two HD Families Regarding Risk Statusand Predictive Genetic Testing

Above all else, predictive genetic testing provides information. Gaining insight into the psychosocial effects of this information is a primary goal of genetic counseling. For individuals utilizing predictive genetic testing, the acquisition of genetic information requires choices regarding disclosure within the family. This study uses a phenomenological methodology to explore the contrasting choices of two sets of HD parents regarding the disclosure of genetic risk status to their children. Additionally, the children (now adults) discuss their lived experience growing up with contrasting disclosure dynamics, and their current views regarding the use of predictive genetic testing for themselves. The primary finding of this study is that all of the adult children now express preference for early disclosure of genetic risk and an open/supportive communication style regarding HD. This finding has value for clinicians working with HD families who must make decisions regarding disclosure issues related to predictive genetic testing.     

“Grasping the Grey”: Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease

Since the discovery of the genetic mutation underlying Huntington disease (HD) and the development of predictive testing, the genetics of HD has generally been described as straightforward; an individual receives either mutation-positive or negative predictive test results. However, in actuality, the genetics of HD is complex and a small proportion of individuals receive an unusual predictive test result called an intermediate allele (IA). Unlike mutation-positive or negative results, IAs confer uncertain clinical implications. While individuals with an IA will usually not develop HD, there remains an unknown risk for their children and future generations to develop the disorder. The purpose of this study was to explore how individuals understood and interpreted their IA result. Interviews were conducted with 29 individuals who received an IA result and 8 medical genetics service providers. Interviews were analyzed using the constant comparative method and the coding procedures of grounded theory. Many participants had difficulty “Grasping the Grey” (i.e. understanding and interpreting their IA results) and their family experience, beliefs, expectations, and genetic counseling influenced the degree of this struggle. The theoretical model developed informs clinical practice regarding IAs, ensuring that this unique subset of patients received appropriate education, support, and counseling.     

The role of language skills in perceived prosocialityin kindergarten boys and girls

The main goal of this study is to clarify the role of language in perceived prosociality according to the gender of the child by using a sample of 209 French-speaking children (93 girls and 116 boys) attending kindergarten (M = 66.8 months, SD = 3.7). In keeping with many studies on this subject, our results showed significant gender differences with respect to the prosociality of kindergarten children as perceived by their teachers. In parallel with gender differences in prosociality, hierarchical regression analyses revealed that the relation between language skills and assessments of prosociality by kindergarten teachers varies according to the gender of the child: language has an explanatory role in perceived prosociality for boys, but not for girls. Implications of these findings concerning the social role of sexes in education and avenues for future research are presented.     

The Changing Age of Individuals Seeking Presymptomatic Genetic Testing for Huntington Disease

Huntington disease (HD) is a progressive neurodegenerative disorder. Presymptomatic genetic testing allows at-risk individuals to clarify their risk status. Understanding the characteristics and motivations of individuals seeking HD presymptomatic genetic testing better equips genetic counselors and other healthcare professionals to provide comprehensive and personalized care. The aims of this study were to (1) determine whether the average age when individuals seek presymptomatic HD genetic testing has decreased over time, (2) assess motivations for seeking testing, (3) explore whether there is a relationship between age and motivations, and (4) explore genetic counselors’ perceptions of the shift in age. Data from the US HD testing centers (N?=?4) were analyzed. A small but statistically significant decrease in age of individuals seeking presymptomatic testing was observed (p?=?0.045). HD community members (N?=?77) were surveyed regarding presymptomatic testing motivations. Younger individuals were more likely than older individuals to cite “To learn whether or not you would develop HD” and “To make choices about further education or a career” compared to older individuals (p?<?0.05). Conversely, older individuals more frequently cited “To give children a better idea of their risk” (p?<?0.002). Sixteen percent of genetic counselors surveyed (6/37) perceived a change in age of testing. All of these respondents had provided HD testing for ten or more years and anecdotally believed the age at testing has decreased over time. Study results help providers personalize counseling based on patient’s age and serve as a starting point for more research into the relationship between age at testing and motivations for testing.     

What to Do with a Second Chance in Life? Long-Term Experiences of Non-carriers of Huntington’s Disease

Little is known about how people’s lives are influenced when going from a 50% risk status of Huntington’s disease (HD) to no risk after performing predictive testing. In this study, 20 interviews were conducted to explore the long-term (>?5 years) experiences after receiving predictive test results as a non-carrier of HD. The results showed a broad variety of both positive and negative reactions. The most prominent positive reaction reported was feelings of relief and gratitude, of not carrying the HD mutation for themselves and for their children. Also, the non-carrier status promoted in some individuals’ significant life changes such as a wishing to have (more) children, pursuing a career or breaking up from an unhappy relationship. However, negative reactions on their psychological well-being were also described. Some had experienced psychological pressure of needing to do something extraordinary in their lives; others expressed feelings of guilt towards affected or untested siblings, resulting in sadness or clinical depression. The new genetic risk status could generate a need of re-orientation, a process that for some persons took several years to accomplish. The results of the present study show the importance of offering long-term post-result counselling for non-carriers in order to deal with the psychological consequences that may follow predictive testing.     

The Effects of Mother Participation in Relationship Education on Coparenting,Parenting, and Child Social Competence: Modeling Spillover Effects for Low‐Income Minority Preschool Children

Although suggestions are that benefits of relationship and marriage education (RME) participation extend from the interparental relationship with parenting and child outcomes, few evaluation studies of RME test these assumptions and the relationship among changes in these areas. This quasi‐experimental study focuses on a parallel process growth model that tests a spillover hypothesis of program effects and finds, in a sample of low‐income minority mothers with a child attending a Head Start program, that increases in mother reports of coparenting agreement for RME participants predict decreases in their reports of punitive parenting behaviors. Although improvements in parenting behaviors did not predict increases in teacher reports of children's social competence, improvements in coparenting agreement were associated with increases in children's social competence over time. In addition, comparative tests of outcomes between parents in the program and parents in a comparison group reveal that RME program participants (n = 171) demonstrate significant improvements compared to nonparticipants (n = 143) on coparenting agreement, parenting practices, and teachers' reports of preschool children's social competence over a 1 year period. The findings are offered as a step forward in better understanding the experiences of low‐resource participants in RME. Implications for future research are discussed.     

Dyadic measurement invariance and its importance for replicability in romantic relationship science

Comparisons of group means, variances, correlations, and/or regression slopes involving psychological variables rely on an assumption of measurement invariance—that the latent variables under investigation have equivalent meaning and measurement across group. When measures are noninvariant, replicability suffers, as comparisons are either conceptually meaningless, or hindered by inflated Type I error rates. We propose that the failure to account for interdependence among dyad members when testing measurement invariance may be a potential source of unreplicable findings in relationship research. We developed fully dyadic versions of invariance models, created an R package (dySEM) to make specifying dyadic invariance models easier and reporting more reproducible, and executed a Registered Report for gauging the extent of dyadic (non)invariance in romantic relationship research across measures of relationship well‐being, personality, and sexuality in a sample of 282 heterosexual couples. We found that although a number of popular measures display good evidence of dyadic invariance, a few display concerning levels and interesting patterns of noninvariance, while others appeared either noninvariant or poorly fitting for both men and women. We discuss our findings in terms of their meaning for the replicability dyadic close relationship research. We close by arguing that increased theorizing and research on dyadic invariance, and inclusive methods for analyzing invariance with indistinguishable dyads, are needed to capitalize on the opportunity to advance our field's understanding of dyadic constructions of relational concepts.     

Research on familial Creutzfeldt-Jakob disease (FCJD) resulting in presymptomatic testing: Implications for the human genome project

A research study to identify the priori gene mutation in a family with familial Creutzfeldt-Jakob disease (FCJD) evolved into presymptomatic diagnostic testing. Our experience with one case raises concerns regarding similar studies that will ensue as a result of the Human Genome Project. Technological advances in human molecular genetics make it difficult for Institutional Review Boards (IRB) to adequately evaluate proposed studies. Additionally, changes in the implications of the study may occur after initial IRB approval, due to technological progress. While FCJD, like Huntington's disease (HD), has adult onset and causes progressive dementia and ataxia, protocols established for presymptomatic testing of HD were not included in the FCJD study design. It is thus recommended that IRB committees include a genetics professional and that IRB-approved research studies be reevaluated on a regular basis to monitor the impact that technological advances may have on participating human subjects.     

Initiation of Reflective Frames in Counseling for Huntingtons Disease Predictive Testing

Genetic professionals and clients are likely to assign different meanings to the extended format of the counseling protocols for predictive testing. In order to facilitate informed, client-centered decisions about the possibility of predictive testing, counselors routinely use the question format to initiate what we call "reflective frames" that invite clients to discuss their feelings and encourage them to adopt introspective and self-reflective stances toward their own experience--spanning the past, the present, and the hypothetical future. We suggest that such initiations of reflective frames constitute a key element of counselors' nondirective stance, although the exact nature of their formulations can be complex and varied. Examining 24 Huntington's Disease (HD) clinic sessions involving 12 families in South Wales with the tools of discourse analysis, our focus in this paper is twofold: (i) to propose a classification of six types of reflective questions (e.g. nonspecific invites, awareness and anxiety, decision about testing, impact of result, dissemination, and other) and to examine their distribution across the various clinic appointments, and (ii) to investigate the scope of these questions in terms of temporal and social axes. We link our analysis to the current debate within the genetic counseling profession about the merits of reflection- versus information-focused counseling styles and the need to abide by professionally warranted and institutionally embedded counseling protocols.     

Cross-task and cross-manipulation stability in shifting the decision criterion

In recognition memory experiments participants must discriminate between old and new items, a judgment influenced by response bias. Research has shown substantial individual differences in the extent to which people will strategically adjust their response bias to diagnostic cues such as the prior probability of an old item. Despite this significant between subject variability, shifts in bias have been found to be relatively predictive within individuals across memory tests. Experiment 1 sought to determine whether this predictability extends beyond memory. Results revealed that the amount a subject shifted response bias in a recognition memory task was significantly predictive of shifting in a visual perception task, suggesting that shifting can generalise outside of a specific testing domain. Experiment 2 sought to determine how predictive shifting would be across two manipulations well known to induce shifts in bias: a probability manipulation and a response payoff manipulation. A modest positive relationship between these two methods was observed, suggesting that shifting behaviour is relatively predictive across different manipulations of shifting. Overall, results from both experiments suggest that response bias shifting, like response bias setting, is a relatively stable behaviour within individuals despite changes in test domain and test manipulation.     

Are People Mindful in Different Ways? Disentangling the Quantity and Quality of Mindfulness in Latent Profiles and Exploring their Links to Mental Health and Life Effectiveness

We sought to disambiguate the quantitative and qualitative components of mindfulness profiles, examine whether including ‘nonattachment’ as a subcomponent of mindfulness alters the profiles, and evaluate the extent to which the person‐centred approach to understanding mindfulness adds predictive power beyond a more parsimonious variable‐centred approach. Using data from a nationally representative sample of Americans (N = 7884; 52% female; Age: M = 47.9, SD = 16), we utilized bifactor exploratory structural equation modelling and latent profile analysis to separate the level and shape of previously identified profiles of mindfulness (Pearson, Lawless, Brown, & Bravo, 2015 ). Consistent with past research, we identified a judgmentally observing profile and a non‐judgmentally aware group, but inconsistent with past research, we did not find profiles that showed high or low levels on all specific aspects of mindfulness. Adding nonattachment did not alter the shape of the profiles. Profile membership was meaningfully related to demographic variables. In models testing the distinctive predictive utility of the profiles, the judgmentally observing profile, compared to the other profiles, showed the highest levels of mental ill‐health, but also the highest levels of life satisfaction and effectiveness. We discuss the implications of our study for clinical interventions and understanding the varieties of mindfulness. Copyright © 2017 European Association of Personality Psychology     

The Role of Harsh Discipline in Explaining Sex Differences in Conduct Disorder: a Study of Opposite-Sex Twin Pairs

In the current study, two hypotheses about the role of harsh discipline (HD) in explaining the sex difference in the prevalence of conduct disorder (CD) were evaluated: that boys exhibit more CD than girls because (1) they are exposed to more HD and/or (2) there is a greater association between HD and CD in boys. These hypotheses were evaluated in a sample of male and female adult twins from different families (N = 3,502) as well as a sample of adult twin brothers and sisters (N = 655) in order to examine the extent to which sex differences remained after controlling for between-family differences. Retrospective reports of HD experienced between ages 6–13 and DSM-IV CD symptoms experienced before age 18 were obtained via structured psychiatric telephone interviews. Boys reported higher mean levels of HD and CD than girls, both between and within families, and the results of model-fitting analyses suggested that differences in the use of harsh disciplinary practices for sons versus daughters may partially explain the sex difference in the prevalence of CD. Between families, the relation between HD and CD was greater for girls than boys, but within families, there was no evidence of a sex difference in the relation between HD and CD. Inconsistent between-family and within-family results suggest that factors that differ between families are confounded with sex differences in the relation between HD and CD. A more stringent test of sex differences involves eliminating these between-family differences by studying boys and girls within the same family.     

Huntington disease: A case study describing the complexities and nuances of predictive testing of monozygotic twins

When a candidate for predictive testing for the Huntington disease gene is a monozygotic twin, confidentiality of the co-twin's diagnosis and autonomy of participation are among the critical genetic counseling issues. Predictive testing can proceed when twins voluntarily and simultaneously request counseling and evaluation in an HD testing program. This case describes a young man referred for predictive testing to an HD testing site on the East Coast of the United States. Family history revealed a twin brother of unknown zygosity who resided on the West Coast of the United States. The genetic counselors on opposite coasts collaborated to provide genetic counseling and evaluation for voluntary, informed predictive testing of the twins, protecting their rights while observing national protocol guidelines.