Points to Consider in the Clinical Use of NGS Panels for Mitochondrial Disease: An Analysis of Gene Inclusion and Consent Forms

Mitochondrial next generation sequencing (NGS) panels offer single-step analysis of the numerous nuclear genes involved in the structure, function, and maintenance of mitochondria. However, the complexities of mitochondrial biology and genetics raise points for consideration in clinical use of these tests. To understand the current status of mitochondrial genetic testing, we assessed the gene offerings and consent forms of mitochondrial NGS panels available from seven US-based clinical laboratories. The NGS panels varied markedly in number of genes (101–1204 genes), and the proportion of genes causing “classic” mitochondrial diseases and their phenocopies ranged widely between labs (18 %–94 % of panel contents). All panels included genes not associated with classic mitochondrial diseases (6 %–28 % of panel contents), including genes causing adult-onset neurodegenerative disorders, cancer predisposition, and other genetic syndromes or inborn errors of metabolism. Five of the panels included genes that are not listed in OMIM to be associated with a disease phenotype (5 %–49 % of panel contents). None of the consent documents reviewed had options for patient preference regarding receipt of incidental findings. These findings raise points of discussion applicable to mitochondrial diagnostics, but also to the larger arenas of exome and genome sequencing, including the need to consider the boundaries between clinical and research testing, the necessity of appropriate informed consent, and the responsibilities of clinical laboratories and clinicians. Based on these findings, we recommend careful evaluation by laboratories of the genes offered on NGS panels, clear communication of the predicted phenotypes, and revised consent forms to allow patients to make choices about receiving incidental findings. We hope that our analysis and recommendations will help to maximize the considerable clinical utility of NGS panels for the diagnosis of mitochondrial disease.     

The subjective experience of object recognition: comparing metacognition for object detection and object categorization

Perceptual decisions seem to be made automatically and almost instantly. Constructing a unitary subjective conscious experience takes more time. For example, when trying to avoid a collision with a car on a foggy road you brake or steer away in a reflex, before realizing you were in a near accident. This subjective aspect of object recognition has been given little attention. We used metacognition (assessed with confidence ratings) to measure subjective experience during object detection and object categorization for degraded and masked objects, while objective performance was matched. Metacognition was equal for degraded and masked objects, but categorization led to higher metacognition than did detection. This effect turned out to be driven by a difference in metacognition for correct rejection trials, which seemed to be caused by an asymmetry of the distractor stimulus: It does not contain object-related information in the detection task, whereas it does contain such information in the categorization task. Strikingly, this asymmetry selectively impacted metacognitive ability when objective performance was matched. This finding reveals a fundamental difference in how humans reflect versus act on information: When matching the amount of information required to perform two tasks at some objective level of accuracy (acting), metacognitive ability (reflecting) is still better in tasks that rely on positive evidence (categorization) than in tasks that rely more strongly on an absence of evidence (detection).     

Counselor Ethical Reasoning: Decision‐Making Practice Versus Theory

Counselors’ decision‐making processes have received little attention in the literature. The purpose of this study was to ascertain the ethical decision‐making practices of counselors working in the field. The results of a phenomenological study indicate that linear models and an orientation to professional ethical guidelines learned in graduate training serve as a foundation, yet not a practical guide, in professional ethical decision making. The authors found that 4 themes guide counselors’ ethical decision making: personal values, clients’ best interest, transparency in decision making, and perceptions of formal training and practice. Implications for practice and counselor education are provided, with recommendations for future research.     

‘If you look the part you’ll get the job’: should career professionals help clients to enhance their career image?

This article presents a critical exploration of the role of career professionals in supporting people to reflect on and enhance their appearance, attractiveness and self-presentation (career image). The article is conceptual and based on a review of the broader literature on career success, appearance and attractiveness. It explores the evidence for a relationship between attractiveness and career, and the authors propose a conceptual framework in which career image is comprised of three elements (interpersonal skills, aesthetic presentation and beauty). The paper examines a possible role for career professionals in relation to this and then critically examines this role and concludes with the proposition of a research agenda in this area.     

Positive Psychological Functioning and the Biology of Health

Most research considers both psychological and physical health with a disease perspective by focusing on poor psychological functioning or disease outcomes. However, identifying attributes that support adaptive functioning may inform approaches to achieving health beyond what we learn from studying risk factors that accelerate deterioration. Recent evidence suggests that positive psychological functioning contributes to attaining optimal physical health. We evaluate the current state of knowledge on the relationship between positive psychological functioning and physical health, defining health beyond solely the absence of disease. We further consider when positive psychological functioning begins to exert effects on health, whether it has direct effects on biological processes or serves primarily to buffer the effects of stress, and whether it is associated with health outcomes and biological processes beyond those that reflect the absence of deterioration and disease. We propose some key directions for future research including the assessment of positive psychological functioning, positive biological functioning, and optimal health, the value of multi‐system measures, and the potential of “omics” to provide novel insights into biological mechanisms underlying associations between positive psychological functioning and physical health.     

Should I plan? Planning effects on perceived effort and motivation in goal pursuit

This research investigates how forming a plan can have both beneficial and detrimental effects on people's motivation to pursue a goal. We propose that forming a plan makes the necessary steps to pursue a goal salient, directing attention to the effort involved in executing these steps, which ultimately affects perceptions of required effort and motivation. We theorize that the impact of forming plans on motivation in goal pursuit depends on the level of difficulty to achieve a goal. When a goal is relatively easy to achieve, planning should make goal pursuit seem less effortful, thereby decreasing motivation to pursue the goal. When a goal is more difficult to achieve, planning should make goal pursuit seem more effortful, which ironically should increase motivation to pursue it. Three studies demonstrate how plans influence motivation in the domains of losing weight and saving money. Copyright © 2015 John Wiley & Sons, Ltd.