Stakeholders’ Opinions on the Implementation of Pediatric Whole Exome Sequencing: Implications for Informed Consent

Advances in whole genome and whole exome sequencing (WGS/WES) technologies have led to increased availability in clinical settings. Currently, there are few guidelines relating to the process and content of informed consent for WGS/WES, nor to which results should be returned to families. To address this gap, we conducted focus groups to assess the views of professionals, parents, and adolescents for the future implementation of WES. The discussions assessed understanding of the risks and benefits of WES, preferences for the informed consent discussion, process for return of results, and the decision-making role of the pediatric patient. Professional focus group participants included bioethicists, physicians, laboratory directors, and genetic counselors. Parent focus groups included individuals with children who could be offered sequencing due to a potential genetic cause of the child’s condition. On-line discussion groups were conducted with adolescents aged 13–17 who had a possible genetic disorder. We identified discrepancies between professionals and patient groups regarding the process and content of informed consent, preference for return of results, and the role of the child in decision-making. Professional groups were concerned with the uncertainty regarding professional obligations, changing interpretation in genomic medicine, and practical concerns of returning results over time. Parent and adolescent groups focused on patient choice and personal utility of sequencing results. Each group expressed different views on the role of the child in decision-making and return of results. These discrepancies represent potential barriers to informed consent and a challenge for genetic counselors regarding the involvement of pediatric patients in decision-making and return of results discussions.     

Traditional Roles in a Non-Traditional Setting: Genetic Counseling in Precision Oncology

Next generation sequencing technology is increasingly utilized in oncology with the goal of targeting therapeutics to improve response and reduce side effects. Interpretation of tumor mutations requires sequencing of paired germline DNA, raising questions about incidental germline findings. We describe our experiences as part of a research team implementing a protocol for whole genome sequencing (WGS) of tumors and paired germline DNA known as the Michigan Oncology Sequencing project (MI-ONCOSEQ) that includes options for receiving incidental germline findings. Genetic counselors (GCs) discuss options for return of results with patients during the informed consent process and document family histories. GCs also review germline findings and actively participate in the multi-disciplinary Precision Medicine Tumor Board (PMTB), providing clinical context for interpretation of germline results and making recommendations about disclosure of germline findings. GCs have encountered ethical and counseling challenges with participants, described here. Although GCs have not been traditionally involved in molecular testing of tumors, our experiences with MI-ONCOSEQ demonstrate that GCs have important applicable skills to contribute to multi-disciplinary care teams implementing precision oncology. Broader use of WGS in oncology treatment decision making and American College of Medical Genetics and Genomics (ACMG) recommendations for active interrogation of germline tissue in tumor-normal dyads suggests that GCs will have future opportunities in this area outside of research settings.     

The Role of Parental Distress in Moderating the Influence of Child Neglect on Maladjustment

Despite pervasive evidence of the harmful impact of neglect on children’s adjustment, individual differences in adaptation persist. This study examines parental distress as a contextual factor that may moderate the relation between neglect and child adjustment, while considering the specificity of the relation between neglect and internalizing versus externalizing problems. In a sample of 66 children (33 with a documented child protective services history of neglect prior to age six), neglect predicted internalizing, and to a lesser extent externalizing, problems as rated by teachers at age seven. Parental distress moderated the relation between neglect and internalizing, but not externalizing, problems. Specifically, higher levels of neglect predicted more internalizing problems only among children of distressed parents. These findings indicate that parent-level variables are important to consider in evaluating the consequences of neglect, and point to the importance of considering contextual factors when identifying those children most at risk following neglect.     

Relationship of Youth Involvement in Diabetes-Related Decisions to Treatment Adherence

The aim of this study was to examine the relationship of youth’s involvement in diabetes-related decisions to adherence. Children and adolescents (8–19 years) and their parents (N = 89) completed the Decision Making Involvement Scale and the Self Care Inventory, a self-report measure of adherence. After controlling for youth age, the degree to which youth expressed an opinion and information to parents was associated with better parent- and youth-reported adherence. The degree to which parents expressed an opinion and information to youth was associated with worse parent-reported adherence. Joint decision-making behaviors (e.g., negotiation; provision of options) also were associated with better youth-reported adherence. Encouraging youth to express opinions and share illness-related information with parents during illness management discussions may improve adherence. Additional research is needed to identify mechanisms of effect and determine associations between decision making involvement and health behaviors and outcomes over time.     

Babies Born Dying: Just Bad Karma? A Discussion Paper

The paper examines the notion of being born dying and karma. Karma is a belief upheld by Buddhists and non-Buddhists: That is, karma follows people from their previous lives into their current lives. This raises a difficult question: Does karma mean that a baby’s death is its own fault? While great peace can be found from a belief in karma, the notion of a baby’s karma returning in some sort of retributive, universal justice can be de-emphasized and is considered “un-Buddhist.” Having an understanding of karma is intrinsic to the spiritual care for the dying baby, not only from the perspective of parents and families who have these beliefs, but also for reconciling one’s own beliefs as a healthcare practitioner.     

Belief-based action prediction in preverbal infants

Successful mindreading entails both the ability to think about what others know or believe, and to use this knowledge to generate predictions about how mental states will influence behavior. While previous studies have demonstrated that young infants are sensitive to others’ mental states, there continues to be much debate concerning how to characterize early theory of mind abilities. In the current study, we asked whether 6-month-old infants appreciate the causal role that beliefs play in action. Specifically, we tested whether infants generate action predictions that are appropriate given an agent’s current belief. We exploited a novel, neural indication of action prediction: motor cortex activation as measured by sensorimotor alpha suppression, to ask whether infants would generate differential predictions depending on an agent’s belief. After first verifying our paradigm and measure with a group of adult participants, we found that when an agent had a false belief that a ball was in the box, motor activity indicated that infants predicted she would reach for the box, but when the agent had a false belief that a ball was not in the box, infants did not predict that she would act. In both cases, infants based their predictions on what the agent, rather than the infant, believed to be the case, suggesting that by 6 months of age, infants can exploit their sensitivity to other minds for action prediction.     

Channeling Power Across Ecological Systems: Social Regularities in Community Organizing

Relational and social network perspectives provide opportunities for more holistic conceptualizations of phenomena of interest in community psychology, including power and empowerment. In this article, we apply these tools to build on multilevel frameworks of empowerment by proposing that networks of relationships between individuals constitute the connective spaces between ecological systems. Drawing on an example of a model for grassroots community organizing practiced by WISDOM—a statewide federation supporting local community organizing initiatives in Wisconsin—we identify social regularities (i.e., relational and temporal patterns) that promote empowerment and the development and exercise of social power through building and altering relational ties. Through an emphasis on listening-focused one-to-one meetings, reflection, and social analysis, WISDOM organizing initiatives construct and reinforce social regularities that develop social power in the organizing initiatives and advance psychological empowerment among participant leaders in organizing. These patterns are established by organizationally driven brokerage and mobilization of interpersonal ties, some of which span ecological systems. Hence, elements of these power-focused social regularities can be conceptualized as cross-system channels through which micro-level empowerment processes feed into macro-level exercise of social recommendations for theory and designpower, and vice versa. We describe examples of these channels in action, and offer of future action research.     

Emotional and Behavioral Problems Among Impoverished Kenyan Youth: Factor Structure and Sex-Differences

Data on youth emotional and behavioral problems from societies in Sub-Saharan Africa are lacking. This may be due to the fact that few youth mental health assessments have been tested for construct validity of syndrome structure across multicultural societies that include developing countries, and almost none have been tested in Sub-Saharan Africa. The Youth Self-Report (YSR), for example, has shown great consistency of its syndrome structure across many cultures, yet data from only one developing country in Sub-Saharan Africa have been included. In this study, we test the factor structure of YSR syndromes among Kenyan youth ages 11–18 years from an informal settlement in Nairobi, Kenya and examine sex-differences in levels of emotional and behavioral problems. We find the eight syndrome structure of the YSR to fit these data well (Root Mean Square Error of Approximation = 0.049). While Kenyan girls have significantly higher internalizing (Anxious/Depressed, Withdrawn/Depressed, Somatic) problem scores than boys, these differences are of similar magnitude to published multicultural findings. The results support the generalizability of the YSR syndrome structure to Kenyan youth and are in line with multicultural findings supporting the YSR as an assessment of emotional and behavioral problems in diverse societies.     

The illusion of control: Sequential dependencies underlie contingent attentional capture

The degree to which humans have top-down control over which information they process remains a central debate within the attention literature. Most of the evidence supporting the top-down control of visuospatial attention has come from cueing paradigms in which target stimuli are preceded by cues that are similar or dissimilar from the target. These studies find that the cues similar to targets capture attention, but dissimilar cues do not, suggesting the top-down control of attention. Here, we used a modified cueing paradigm to investigate an alternative possibility that the cue type differences are due to sequential dependency effects occurring between cue and target processing rather than the top-down control of attention. When individuals searched for color targets, we replicated contingent capture effects in RTs, which are susceptible to sequential dependencies, but memory performance was always best at the cued locations, regardless of the cue’s identity. When individuals searched for onset targets, we observed contingent capture in both tasks. These results demonstrate the utility of the memory probe paradigm and suggest an asymmetry between how strongly onsets and color defined cues capture attention.