Feedback during exposure to inescapable shocks and subsequent shock-escape performance

In two experiments, we assessed the ability of a feedback stimulus during helplessness training to reduce the performance deficits common to inescapable shock. In each experiment, four groups of rats were exposed to either escapable shock (E), inescapable shock with a feedback stimulus following shock termination (Y-FS), inescapable shock with no feedback stimulus (Y-NFS), or no shock (N). The feedback stimulus eliminated the interference effects of inescapable shock when tested with an FR-3 lever press escape task (Experiment 1) or on an FR-1 task with a 3-s delay between the response and shock termination (Experiment 2). These results suggest that stress-induced biochemical changes may mediate the interference effects seen in inescapably shocked rats.     

Recurrent Trisomies: Chance or Inherited Predisposition?

Two patients experiencing recurring trisomic pregnancies involving a different chromosome each time are presented. Mechanisms to explain recurrent trisomies include a gene or genes predisposing to nondisjunction in general or to nondisjunction of the acrocentric chromosomes, maternal age effects, and germ-line mosaicism. Genetic counseling is complicated by the lack of a clear explanation for the recurrences, difficulty in quoting a specific recurrence risk, concern regarding the risk for uniparental disomy, and the frustration, grief and guilt reactions of the patients.     

Research on familial Creutzfeldt-Jakob disease (FCJD) resulting in presymptomatic testing: Implications for the human genome project

A research study to identify the priori gene mutation in a family with familial Creutzfeldt-Jakob disease (FCJD) evolved into presymptomatic diagnostic testing. Our experience with one case raises concerns regarding similar studies that will ensue as a result of the Human Genome Project. Technological advances in human molecular genetics make it difficult for Institutional Review Boards (IRB) to adequately evaluate proposed studies. Additionally, changes in the implications of the study may occur after initial IRB approval, due to technological progress. While FCJD, like Huntington's disease (HD), has adult onset and causes progressive dementia and ataxia, protocols established for presymptomatic testing of HD were not included in the FCJD study design. It is thus recommended that IRB committees include a genetics professional and that IRB-approved research studies be reevaluated on a regular basis to monitor the impact that technological advances may have on participating human subjects.     

Reduction of Health Care Costs and Improved Appropriateness of Incoming Test Orders: the Impact of Genetic Counselor Review in an Academic Genetic Testing Laboratory

The goal of this study was to evaluate the impact of genetic counselor (GC) review of incoming test orders received in an academic diagnostic molecular genetics laboratory. The GC team measured the proportion of orders that could be modified to improve efficiency or sensitivity, tracked provider uptake of GC proposed testing changes, and calculated the health care dollar savings resulting from GC intervention. During this 6-month study, the GC team reviewed 2367 incoming test orders. Of these, 109 orders (4.6%) were flagged for review for potentially inefficient or inappropriate test ordering. These flagged orders corresponded to a total of 51 cases (1–5 orders for each patient), representing 54 individuals and including 3 sibling pairs. The GC team proposed a modification for each flagged case and the ordering providers approved the proposed change for 49 of 51 cases (96.08%). For the 49 modifications, the cost savings totaled $98,750.64, for an average of $2015.32 saved per modification. This study provides evidence of the significant contribution of genetic counselors in a laboratory setting and demonstrates the benefit of laboratories working with ordering providers to identify the best test for their patients. The review of test orders by a genetic counselor both improves genetic test ordering strategies and decreases the amount of health care dollars spent on genetic testing.