Emerging Genetic Counselor Roles within the Biotechnology and Pharmaceutical Industries: as Industry Interest Grows in Rare Genetic Disorders,How are Genetic Counselors Joining the Discussion?

Traditionally, the biotechnology and pharmaceutical industry (BPI) has focused drug development at the mass-market level targeting common medical issues. However, a recent trend is the development of therapies for orphan or rare disorders, including many genetic disorders. Developing treatments for genetic disorders requires an understanding of the needs of the community and translating genomic information to clinical and non-clinical audiences. The core skills of genetic counselors (GCs) include a deep knowledge of genetics and ability to communicate complex information to a broad audience, making GCs a choice fit for this shift in drug development. To date there is limited data defining the roles GCs hold within this industry. This exploratory study aimed to define the roles and motivation of GCs working in BPI, assess job satisfaction, and identify translatable skills and current gaps in GC training programs. The authors surveyed 26 GCs working in BPI in the United States; 79 % work for companies focused on rare disorders. GC positions in BPI are growing, with 57 % of respondents being the first GC in their role. GCs in BPI continue to utilize core genetic counseling competencies, though 72 % felt their training did not fully prepare them for BPI. These data suggest opportunities for exposure to BPI in GC training to better prepare future generations of GCs for these career opportunities. GC satisfaction was high in BPI, notably in areas traditionally reported as less satisfying on the National Society for Genetic Counselors Professional Status Survey: salary and advancement opportunities. BPI’s growing interest in rare disorders represents a career opportunity for GCs, addressing both historic areas of dissatisfaction for GCs and BPI’s genomic communication needs.     

Categorization does not promote symmetry in Guinea baboons (<Emphasis Type="Italic">Papio papio</Emphasis>)

Humans have the capacity to use stimuli interchangeably by forming equivalence classes, and this ability seems to be supported by our language system. According to Sidman and Tailby (Conditional discrimination vs. matching to sample: an expansion of the testing paradigm. J Exp Anal Behav 37:5–22, 1982), the formation of equivalence classes require that three relations are derived among the class members, and past experiments have shown that one of these relations, i.e., symmetry, corresponding to the ability to reverse a relation (if A → B, then B → A), is extremely difficult to obtain in non-human animals. Because language development and the ability to form equivalence classes both co-occur in children with an increased ability to form categories, the current study tested the idea that category learning might promote symmetry in a nonhuman primate species. In Experiment 1, twelve Guinea baboons (Papio papio) were trained to associate 60 pictures of bears and 60 pictures of cars to two category labels, before being tested in symmetry trials. In Experiment 2, symmetry was trained and tested by reversing the association order between labels and pictures, using a new set of stimuli. In both experiments, the baboons successfully demonstrated category discrimination, but had only a weak (though significant) tendency to respond in accordance with symmetry during test trials. Altogether, our results confirm that symmetry is inherently difficult in non-human animals. We discuss possible explanations for such a limitation and give reasons for thinking that the effects of categorization on symmetry should be further investigated.     

Depth perception: cuttlefish (Sepia officinalis) respond to visual texture density gradients

Studies concerning the perceptual processes of animals are not only interesting, but are fundamental to the understanding of other developments in information processing among non-humans. Carefully used visual illusions have been proven to be an informative tool for understanding visual perception. In this behavioral study, we demonstrate that cuttlefish are responsive to visual cues involving texture gradients. Specifically, 12 out of 14 animals avoided swimming over a solid surface with a gradient picture that to humans resembles an illusionary crevasse, while only 5 out of 14 avoided a non-illusionary texture. Since texture gradients are well-known cues for depth perception in vertebrates, we suggest that these cephalopods were responding to the depth illusion created by the texture density gradient. Density gradients and relative densities are key features in distance perception in vertebrates. Our results suggest that they are fundamental features of vision in general, appearing also in cephalopods.     

EPISTEMIC ACTION,EXTENDED KNOWLEDGE,AND METACOGNITION

How should one attribute epistemic credit to an agent, and hence, knowledge, when cognitive processes include an extensive use of human or mechanical enhancers, informational tools, and devices which allow one to complement or modify one's own cognitive system? The concept of integration of a cognitive system has been used to address this question. For true belief to be creditable to a person's ability, it is claimed, the relevant informational processes must be or become part of the cognitive character of the agent, as a result of a process of enculturation. We argue that this view does not capture the role of sensitivity to epistemic norms in forming true beliefs. An analysis of epistemic actions, basic and extended, is proposed as offering an appropriate framework for crediting an agent with knowledge.     

Feasibility of Conducting Long-Term Follow-Up of Children and Infants Treated for CNS Tumors on the Same Cooperative Group Clinical Trial Protocol

Given the barriers to conducting long-term assessment of neurocognitive and psychosocial functioning of those treated in infancy for central nervous system (CNS) tumors, a multi-site feasibility study was conducted. The primary objective was to demonstrate that it is feasible to identify, locate and assess the functioning of children treated on the same protocol 10-years post-treatment. Six sites obtained institutional approval, identified and recruited subjects, and obtained comprehensive neurocognitive and psychosocial data. All feasibility objectives were met. Barriers to participation included length of time for Institutional Review Board submission and review, clinical demands, limited eligible participants at individual institutions, difficulty locating long-term subjects and stipend/reimbursement concerns. Results indicate that long-term studies are feasible and essential given the need to address long-term issues of children treated at a young age for CNS tumors, especially as they relate to later academic and vocational planning, but require significant coordination and commitment of cooperative group and institutional resources.     

Relationships,Environment, and the Brain: How Emerging Research is Changing What We Know about the Impact of Families on Human Development

Recent research is providing family therapists with new information about the complex interaction between an individual's biological makeup and his/her social and physical environment. Family and social relationships, particularly during sensitive periods early in life, can affect a child's biological foundation. Additionally, stress during the early years can have a lasting effect on an individual's physical and mental health and contribute to the onset of severe mental illness. Community programs have been developed to intervene early with families who have an at‐risk child to prevent or minimize the onset of mental illness including providing partnerships with at‐risk mothers of infants to shape attachment relationships. Programs are also developing individual and family interventions to prevent the onset of psychosis. Practicing family therapists can incorporate emerging neuroscience and early intervention research and leverage the growing base of community programs to enhance the effectiveness and sustainability of mental health outcomes for clients. Additionally, family therapy education programs should broaden student training to incorporate the growing body of information about how family relationships affect individual mental health development.     

Prevention of Problem Behavior Through Annual Family Check-Ups in Early Childhood: Intervention Effects From Home to Early Elementary School

This randomized intervention trial examined the effects of yearly Family Check-Ups (FCUs) and tailored parent management training on parent report of problem behavior from age 2 to 5 years and teacher report of oppositional behavior at age 7.5. A multiethnic risk sample of 731 families in 3 distinct geographical settings who were receiving assistance from the Women, Infants, and Children Nutritional Supplement (WIC) program were randomly assigned to a yearly FCU. Intention to treat (ITT) analyses were used to examine overall intervention effects, and complier average causal effect (CACE) modeling was used to examine the effects of annual intervention engagement in the FCU on parent reports of child problem behavior from age 2 to 5 and teacher reports of problem behavior at age 7.5. ITT intervention effects were found regarding parent report at ages 2 to 5 and teacher report at age 7.5, indicating less growth in problem behavior for children in the intervention group than for those in the control group. CACE modeling of intervention engagement revealed that the effect sizes on parent- and teacher-reported problem behavior increased as a function of the number of yearly FCUs caregivers participated in. Findings suggest that embedding yearly FCU services within the context of social, health, and educational services in early childhood can potentially prevent early-onset trajectories of antisocial behavior. The increases in effect size with successive FCU engagement underscores the importance of a motivational approach to parenting support among high-risk families.     

TDQ-60 – a color picture-naming test for adults and elderly people: validation and normalization data

Word-finding difficulties are usually assessed with picture-naming tests. In this article, we present the TDQ-60, a new test designed to assess acquired lexical access deficits, taking into account semantics and psycholinguistic variables. The article includes three studies. Study 1 describes the development phase of the TDQ-60. In study 2, healthy control participants and individuals with a diagnosis of the semantic variant of primary progressive aphasia were assessed to establish the convergent and discriminant validity of the TDQ-60. Finally, in Study 3, a group of 305 young and elderly French-speaking adults from Quebec were assessed in order to provide normative data. The results demonstrate that the TDQ-60 has good convergent validity and good discriminant validity. This study also provides normative data in which were considered the effect of age and education.The TDQ-60 is a new valid picture-naming test, controlled for psycholinguistic variables and designed to identify the influence of semantics on lexical access in spoken production.