Next Generation Sequencing is the Impetus for the Next Generation of Laboratory-Based Genetic Counselors

Next generation sequencing (NGS) is dramatically increasing the number of clinically available genetic tests and thus the number of patients in which such testing may be indicated. The complex nature and volume of the reported results requires professional interpretation of the testing in order to translate and synthesize the meaning and potential benefit to patients, and genetic counselors are uniquely suited to provide this service. The increased need for genetic counselors in this role, coupled with the time required and a limited number of trained and available counselors presents a challenge to current models for making genetic testing available to patients and their healthcare providers effectively and efficiently. The employment of genetic counselors at genetic/genomic laboratories is one model to expand the resources for providing this service. In this article, we briefly review the advent of NGS and its clinical applications, examine the core skills of genetic counselors and delineate the expanding roles and responsibilities of laboratory-based genetic counselors. We also propose changes to the genetic counseling training program curriculum to account for the increasing opportunities for genetic counselors to contribute and thrive within genetic testing laboratories.     

Genetic Counseling for Fanconi Anemia: Crosslinking Disciplines

Fanconi anemia (FA) is the most common of the inherited bone marrow failure syndromes with an incidence of approximately 1/100,000 to 1/200,000 live births. FA is a genetically complex and phenotypically heterogeneous condition involving birth defects, bone marrow failure, and cancer predisposition. This rare disease became well known in the genetic counseling community in 2002, when it was identified that biallelic mutations in BRCA2 can cause FA. Knowledge gained from the growing association between FA and breast cancer pathways has brought even more light to the complex genetic issues that arise when counseling families affected by this disease. Genetic counseling issues surrounding a diagnosis of FA affect many different disciplines. This review will serve as a way to cross-link the various topics important to genetic counselors that arise throughout the life of a patient with FA. Issues covered will include: an overview of FA, phenotypic presentation, management and treatment, the genetics and inheritance of FA, cytogenetic and molecular testing options, and the risks to family members of an individual with FA.     

Challenging the widespread assumption that connectionism and distributed representations go hand-in-hand

One of the central claims associated with the parallel distributed processing approach popularized by D.E. Rumelhart, J.L. McClelland and the PDP Research Group is that knowledge is coded in a distributed fashion. Localist representations within this perspective are widely rejected. It is important to note, however, that connectionist networks can learn localist representations and many connectionist models depend on localist coding for their functioning. Accordingly, a commitment to distributed representations should be considered a specific theoretical claim regarding the structure of knowledge rather than a core principle, as often assumed. In this paper, it is argued that there are fundamental computational and empirical challenges that have not yet been addressed by distributed connectionist theories that are readily accommodated within localist approaches. This is highlighted in the context of modeling word and nonword naming, the domain in which some of the strongest claims have been made. It is shown that current PDP models provide a poor account of naming monosyllable items, and that distributed representations make it difficult for these models to scale up to more complex language phenomena. At the same time, models that learn localist representations are shown to hold promise in supporting many of the core reading and language functions on which PDP models fail. It is concluded that the common rejection of localist coding schemes within connectionist architectures is premature.     

Social Problems in ADHD: Is it a Skills Acquisition or Performance Problem?

Recent models suggest that social skills training’s inefficacy for children with ADHD may be due to target misspecification, such that their social problems reflect inconsistent performance rather than knowledge/skill gaps. No study to date, however, has disentangled social skills acquisition from performance deficits in children with ADHD. Children ages 8–12 with ADHD (n?=?47) and without ADHD (n?=?23) were assessed using the well-validated social behavioral analysis framework to quantify cross-informant social skills acquisition deficits, performance deficits, and strengths. Results provided support for the construct and predictive validities of this Social Skills Improvement System (SSIS) alternate scoring method, including expected magnitude and valence relations with BASC-2 social skills and ADHD symptoms based on both parent and teacher report. Acquisition deficits were relatively rare and idiosyncratic for both the ADHD and Non-ADHD groups, whereas children with ADHD demonstrated cross-informant social performance deficits (d?= 0.82–0.99) on several specific behaviors involving attention to peer directives, emotion regulation, and social reciprocity. Relative to themselves, children with ADHD were perceived by parents and teachers as exhibiting more social strengths than social acquisition deficits; however, they demonstrated significantly fewer social strengths than the Non-ADHD group (d?=??0.71 to ?0.89). These findings are consistent with recent conceptualizations suggesting that social problems in ADHD primarily reflect inconsistent performance rather than a lack of social knowledge/skills. Implications for refining social skills interventions for ADHD are discussed.     

Visual-Verbal Self/Other-Referential Processing Task: Direct vs. indirect assessment, valence, and experiential correlates

This study evaluated a new methodology for assessing valenced Self-Referential Processing (SRP) in comparison with Other-Referential Processing (ORP). Participants viewed pictures of themselves during certain trials and same-gender strangers during others, intermixed between valenced words. Participants internally-rehearsed the words “I am” or “He/she is” when presented with the respective pictures and read the valenced words, thereby associating the self/other with positivity/negativity on different trials. Participants self-monitored their affective response, and their degree of attention and/or rate of internal speech/reading speed was measured indirectly via button-press response time (RT). Results in 91 young adults demonstrated a self-positivity bias in survey ratings, stronger affective responses during SRP than ORP, slower RT during SRP than ORP, and slower RT during positive than negative valence. Difference scores between SRP of negative- vs. positive-valence trials, and between SRP vs. ORP of negative-valence trials, were correlated among survey ratings, affective responses, and RT. Finally, content analyses of phenomenological reports showed that task conditions differentially provoked a number of socioemotional experiences during both SRP and ORP (e.g., jealousy-envy, sympathy-pity, good will/pride). We discuss potential applications of the task in the study of personality and individual differences.     

Learning and transfer of calorie information

This study compared generating information about food to viewing and verbally producing that information for learning and transfer. Specifically, during training, a list of food items was shown, and some participants generated either real calories (Experiment 1) or fabricated prices (Experiment 2) associated with those foods with feedback provided (seeding), some viewed and read aloud values provided (viewing), and others read aloud the names of the items with no values provided (control). All participants were tested immediately and 1 week later on both old and new foods. In both experiments, the seeding and viewing conditions showed more learning than the control condition, and only the experimental conditions showed transfer of learning from old to new foods, with advantages found for seeding over viewing only in some cases. The results are discussed in terms of the seeding, testing, generation, and production effects, as well as their applications to health and policy.     

The stability of function of automatically reinforced vocal stereotypy over time

Although prior research has suggested the function of socially reinforced problem behavior can change across time, the stability of the function of automatically reinforced behavior is largely unknown. Further, some authors have suggested automatically reinforced behavior is likely to enter into socially mediated contingencies. The present study compared 2 functional analyses conducted on the same target behavior at least 1 year apart. Participants were 6 individuals diagnosed with an intellectual or developmental disability displaying automatically reinforced vocal stereotypy. Results indicated the function of each participant's vocal stereotypy remained stable over time (i.e., no new functions were acquired); however, future research on functional stability for automatically reinforced behavior of other topographies is needed.     

The Importance of Pleasure in the Moral for Kant's Ethics

I argue for a new reading of Kant's claim that respect is the moral incentive; this reading accommodates the central insights of the affectivist and intellectualist readings of respect, while avoiding shortcomings of each. I show that within Kant's ethical system, the feeling of respect should be understood as paradigmatic of a kind of pleasure, pleasure in the moral. The motivational power of respect arises from its nature as pleasurable feeling, but the feeling does not directly motivate individual dutiful actions. Rather, the feeling is motivational in the sense that, after an agent has acted in a morally good way, the pleasure that results from that action contributes to the cultivation of virtue in the agent and, consequently, morally good actions in the future. Understanding the feeling of respect to be moral pleasure not only gives us insight into how finite rational beings develop virtue, but also a new way of understanding respect as an incentive.     

The World at 7:00: Comparing the Experience of Situations Across 20 Countries

The purpose of this research is to quantitatively compare everyday situational experience around the world. Local collaborators recruited 5,447 members of college communities in 20 countries, who provided data via a Web site in 14 languages. Using the 89 items of the Riverside Situational Q‐sort (RSQ), participants described the situation they experienced the previous evening at 7:00 p.m. Correlations among the average situational profiles of each country ranged from r = .73 to r = .95; the typical situation was described as largely pleasant. Most similar were the United States/Canada; least similar were South Korea/Denmark. Japan had the most homogenous situational experience; South Korea, the least. The 15 RSQ items varying the most across countries described relatively negative aspects of situational experience; the 15 least varying items were more positive. Further analyses correlated RSQ items with national scores on six value dimensions, the Big Five traits, economic output, and population. Individualism, Neuroticism, Openness, and Gross Domestic Product yielded more significant correlations than expected by chance. Psychological research traditionally has paid more attention to the assessment of persons than of situations, a discrepancy that extends to cross‐cultural psychology. The present study demonstrates how cultures vary in situational experience in psychologically meaningful ways.