Aligning Policy to Promote Cascade Genetic Screening for Prevention and Early Diagnosis of Heritable Diseases

Cascade genetic screening is a methodology for identifying and testing close blood relatives of individuals at increased risk for heritable conditions and follows a sequential process, minimizing testing costs and the number of family members who need to be tested. It offers considerable potential for cost savings and increased awareness of heritable conditions within families. CDC-classified Tier 1 genomic applications for hereditary breast and ovarian cancer syndrome (HBOC), Lynch Syndrome (LS), and familial hypercholesterolemia (FH) are recommended for clinical use and support the use of cascade genetic screening. Most individuals are unaware of their increased risk for heritable conditions such as HBOC, LS, and FH. Consistent implementation of cascade genetic screening could significantly increase awareness and prevention of heritable conditions. Limitations to effective implementation of cascade genetic screening include: insufficient genetic risk assessment and knowledge by a majority of healthcare providers without genetics credentials; a shortage of genetic specialists, especially in rural areas; a low rate of reimbursement for comprehensive genetic counseling services; and an individual focus on prevention by clinical guidelines and insurance coverage. The family-centric approach of cascade genetic screening improves prevention and early diagnosis of heritable diseases on a population health level. Cascade genetic screening could be better supported and augmented through changes in health policy.     

Interpreting Direction of Anxiety Within Hanin's Individual Zone of Optimal Functioning

Abstract

The purpose of this study was to examine Jones' (1991) directionality hypothesis and Hanin's (2000) individual zone of optimal functioning model. Swimmers' performance was examined to determine if cognitive and somatic anxiety was within cognitive and somatic individual zones of optimal functioning (IZOFs). Direction of cognitive and somatic anxiety was examined to determine if anxiety within IZOFs would be reported as facilitative to performance. One 3×3 (cognitive anxiety X somatic anxiety) ANOVA was calculated using ipsative t scores as the performance dependent variable. Two separate one factor ANOVAs for cognitive anxiety and somatic anxiety were calculated using ipsatized cognitive and somatic direction scores as the dependent variables. Results indicated support for Hanin's IZOF theory relative to intensity of cognitive anxiety, however, interpretations of anxiety within IZOFs failed to provide support for the directional hypothesis. Results are explained via examination of extant anxiety-performance and directionality literature. Potential limitations and implications for future research are discussed.     

Downsizing,changes in work,and self-rated health of employees: A 7-year 3-wave panel study

Abstract

The question of whether changes in work and interpersonal relationships mediate the adverse effects of downsizing on health of employees was explored. Longitudinal data from a 7-year study of 550 municipal workers in a variety of jobs was collected before, immediately after, and 4 years after downsizing. The degree of downsizing for each job category was assessed using organizational records of contracted days worked. Downsizing predicted adverse changes in work characteristics and a long-lasting decline in self-rated health. Decreased job control, high job insecurity and increased physical demands, in combination, appeared to be the linking mechanism between downsizing and general health. Interestingly, social conflict did not play a role in the mediation process.     

The NMDA receptor antagonist MK-801 blocks acquisition and extinction of conditioned hypoalgesic responses in the rat

The role of the N-methyl-D-aspartate (NMDA) receptor in Pavlovian conditioning of hypoalgesic responses in the hotplate apparatus was examined using the non-competitive NMDA antagonist MK-801. Either MK-801 or saline were administered before the training phase, test phase, or both, and MK-801 disrupted the acquisition and extinction but not the expression of conditioned hypoalgesic responses. All rats received counterbalanced injections of both MK-801 and saline after the training phase, therefore the learning decrements could not be attributed to a delayed, non-specific action of the drug. MK-801 did not augment paw-lick latencies on either the training or test days, indicating that its behavioural effects are not due to alterations in nociceptive sensitivity or motor performance. Similarly, MK-801's effects upon acquisition and extinction could not be attributed to state-dependent generalization decrement or impairments in processing of the hot-plate apparatus cues during training, as rats displayed normal hypoalgesic responses when tested with MK-801, and MK-801-treated animals displayed normal habituation of novelty-induced hypoalgesia in the hot-plate apparatus. These data suggest that the NMDA receptor system is involved in the acquisition and extinction, but not the expression of conditioned hypoalgesia and parallels the effects of NMDA receptor antagonists on the acquisition and expression of long-term potentiation (LTP) both in vitro and in vivo. It is plausible that an endogenous NMDA-mediated form of LTP plays a vital role in the acquisition and storage of aversive representations mediating conditioned hypoalgesic responses.     

Terror management and adults' attachment to their parents: the safe haven remains

Six studies examined the role of young adults' parental attachment in terror management. Studies 1-3 revealed that activating thoughts of one's parent in response to mortality salience (MS) reduced death-thought accessibility and worldview defense and increased feelings of self-worth. Studies 4-5 demonstrated that MS led to greater ease of recalling positive maternal interactions and greater difficulty recalling negative interactions, and increased attraction to a stranger who was described as being similar to one's parent. If reliance on parents for terror management purposes reflects the operation of attachment mechanisms, then such effects should vary on the basis of an individual's attachment style. Study 6 demonstrated that, after MS, insecure individuals were more likely to rely on relationships with their parents, whereas secure individuals were more likely to rely on relationships with romantic partners.     

Goal neglect and Spearman's g: competing parts of a complex task

In goal neglect, a person ignores some task requirement though being able to describe it. Goal neglect is closely related to general intelligence or C. Spearman's (1904) g (J. Duncan, H. Emslie, P. Williams, R. Johnson, & C. Freer, 1996). The authors tested the role of task complexity in neglect and the hypothesis that different task components in some sense compete for attention. In contrast to many kinds of attentional limits, increasing the real-time demands of one task component does not promote neglect of another. Neither does neglect depend on preparation for different possible events in a block of trials. Instead, the key factor is complexity in the whole body of knowledge specified in task instructions. The authors suggest that as novel activity is constructed, relevant facts, rules, and requirements must be organized into a "task model." As this model increases in complexity, different task components compete for representation, and vulnerable components may be lost. Construction of effective task models is closely linked to g.     

Pathways from infant exposure to marital conflict to parent–toddler role reversal

We know that exposure to marital conflict places infants at risk, but we know less about processes. One process may be role reversal, when a distressed parent looks to the child to meet unmet needs for comfort, intimacy, or companionship. A parent in marital conflict may be particularly prone to role reversal, which in turn adversely affects child development. The current study examined pathways from infants' exposure to marital conflict at 12 months to role reversal at 24 months. We sampled low–middle socioeconomic status (SES) families with their first child (N = 128). Independent observers assessed marital conflict (in a problem‐solving task) and role reversal (in a story‐telling task). We found that each parent's conflict behavior predicted the other parent's role reversal. In a direct pathway, mother's conflict behavior towards father led directly to father's role reversal with the child. In an indirect pathway, father's conflict behavior towards mother led to his withdrawal from her, which in turn led to mother's role reversal with the child. Clinical implications are discussed within a developmental psychopathology framework in terms of preventive interventions to offset the deleterious effect of marital conflict and role reversal on child development.