Implications of human genome research: Impact on graduate education in genetic counseling

A conference of genetic counseling and clinical nurse specialist graduate program directors was hosted by the National Society of Genetic Counselors and funded by the Ethical, Legal, and Social Implications Program of the National Center for Human Genome Research in June 1992. One aspect of the conference addressed implications of the Human Genome Initiative for graduate education in genetic counseling. Within this paper, the topics of human variation and diversity, genetic discrimination, issues in non-directiveness, and genetic screening and policy development are reviewed and recommendations made for graduate curricula development and enhancement. In addition, suggestions are included for practicing genetic counselors.     

Update on master's genetic counseling training programs: Survey of curriculum content and graduate analysis summary

The field of genetic counseling is a recognized specialty in medical genetics with the primary practitioners being masters degree prepared individuals. Since the inception of the first master's degree genetic counseling (MGC) training program in 1969, more than 1000 genetic counselors have graduated from established training programs in United States and Canada. The MGC programs involve a 2-year academic curriculum of both didactic course work and supervised clinical field work (clinical praticums). A recent survey of 17 existing MGC training programs (16 U.S. and 1 Canadian) reveals that MGC graduates average a total of 1349 actual contact hours (range 854–1952 hours) during their 2-year degree program course of study. Clinical experience gained through clinical practica accounts for 58% of required coursework, followed by didactic coursework in basic science (21%) and counseling (16%), respectively. A few programs also have requisite laboratory practica, which accounts for 5% of overall content hours. The 17 existing MGC programs produce approximately 100 graduates annually. Although the number of programs has grown since inception of the first MGC program in 1969, the mean number of graduates per program remains fairly constant. By year 2002, the estimated total number of master's degree trained genetic counselors will approach 2200.     

To Use or Not to Use: The Prenatal Genetic Technology/Worry Conundrum

We conducted an exploratory, qualitative study investigating the factors influencing the use of genetic counseling and prenatal genetic testing for two groups: pregnant women 35 years of age and over (AMA) at the time of delivery and pregnant women with an abnormal maternal serum triple screen (MSAFP3). The convenience sample consisted of 25 semistructured interviews of women/couples and 50 observations of genetic counseling sessions. Worry turned out to be the most important variable influencing decision making about prenatal genetic testing and was greater in the MSAFP3 group than in the AMA group. The women in the AMA group appeared to assign the risk of having a child with Down syndrome to their age category rather than to themselves individually, whereas, the risk perception for women with an abnormal MSAFP3 appeared to have shifted from a general population risk for pregnant women to an individual, personal risk. There was a general lack of understanding and also more misinformation about the MSAFP3 screen compared to amniocentesis. Women in both groups were torn between fear of an invasive test and worry about the health of their fetus for the rest of their pregnancy if they did not undergo amniocentesis.     

The Role of Expectations in Effective Genetic Counseling

The goals for this investigation were to assess individuals' expectations for social support from genetic counselors, and to explore how these expectations influence perceptions of genetic counselor effectiveness. Two studies were conducted to address these goals. Results from the first study show that individuals most frequently expect genetic counselors to provide options and support following the disclosure of distressing test results, while data from the second study demonstrate that expectations play a significant role in individuals' assessment of genetic counselor effectiveness. These findings shed light on what individuals expect from genetic counselors following the disclosure of medically positive test results and inform how these expectations influence the success of genetic counseling sessions.     

Update and Review: Supernumerary Marker Chromosomes

Supernumerary marker chromosomes (SMCs) are found in individuals with normal and abnormal clinical phenotypes. Correlations between karyotype and phenotype have been made in only a few circumstances. This article summarizes the most recent information regarding supernumerary marker chromosomes, including genetic counseling issues.     

Does functional neuroimaging solve the questions of neurolinguistics?

Neurolinguistic research has been engaged in evaluating models of language using measures from brain structure and function, and/or in investigating brain structure and function with respect to language representation using proposed models of language. While the aphasiological strategy, which classifies aphasias based on performance modality and a few linguistic variables, has been the most stable, cognitive neurolinguistics has had less success in reliably associating more elaborately proposed levels and units of language models with brain structure. Functional imaging emerged at this stage of neurolinguistic research. In this review article, it is proposed that the often-inconsistent superfluity of outcomes arising from functional imaging studies of language awaits adjustment at both "ends" of the process: model and data. Assumptions that our current language models consistently and reliably represent implicit knowledge within human cerebral processing are in line for major revision; and the promise of functional brain imaging to reveal any such knowledge structures must incorporate stable correlates of the imaging signal as dependent variable.     

The Role of the Child in Adult Development

This paper provides theoretical and empirical support for the view that children play a large and often underappreciated role in adult development. Fifty parents and teachers were asked to discuss occasions when they learned something valuable from a child or when a child changed them in some significant way. Adults reported that children can cause them to (a) shift their values or priorities, (b) integrate memories or experiences previously disowned or repressed, (c) become more creative and cognitively flexible, or (d) look at the world with more wonder, awe, or curiosity. Werner's concept of genetic stratification (H. Werner, 1957) and Labouvie-Vief, Chiodo, Goguen, Diehl, and Orwoll's concept of dynamic intersubjectivity (G. Labouvie-Vief, L. M. Chiodo, L. A. Goquen, M. Diehl, & L. Orwoll, 1995) are used to explain the results.     

Ethics,policy, and rare genetic disorders: the case of Gaucher disease in Israel

Gaucher disease is a rare, chronic,ethnic-specific genetic disorder affecting Jewsof Eastern European descent. It is extremelyexpensive to treat and presents difficultdilemmas for officials and patients in Israelwhere many patients live. First, high-cost,high-benefit, but low volume treatment forGaucher creates severe allocation dilemmas forpolicy makers. Allocation policies driven bycost effectiveness, age, opportunity or needmake it difficult to justify funding. Processoriented decision making based on terms of faircooperation or decisions invoking the ``rule ofrescue' risk discriminating against minoritieswho may already suffer from inequitabledistribution of heath care resources. Apartfrom cost, Gaucher disease prompts questionsabout abortion. Unlike severe geneticdisorders, Gaucher offers no grounds forabortion and, in many ways, is analogous togender based abortions that are prohibitedregardless of fetal age. Finally, Gaucherraises concerns about the disclosure of geneticinformation. These affect potential carriersasked to participate in population studies andcarriers and patients who must considerdisclosure to others. These concerns weigh theright to privacy against communal interests andbilateral commitments.     

Neuroimaging of declarative memory in schizophrenia

The past three decades have seen tremendous growth in our understanding of the cerebral underpinnings of schizophrenia. including the neural correlates of the cognitive impairment seen in this syndrome. In this article we review the role that structural and functional neuroimaging has played in elucidating the cerebral basis for the declarative memory deficits associated with schizophrenia. Memory impairment in schizophrenia appears to involve abnormal connectivity between the prefrontal cortex and three regions important in normal learning and memory: the hippocampus, thalamus, and cerebellum.     

Transcranial magnetic stimulation as a tool for cognitive studies

Transcranial Magnetic Stimulation (TMS) is a tool for the non-invasive stimulation of the human brain. It allows the activation of arbitrary sites of the superficial cortex and, combined with other brain-imaging techniques such as EEG, PET, and fMRI, it can be used to evaluate cortical excitability and connectivity. This is of major importance in, for example, the study of cognitive processes such as language, learning, memory and self-representation, which are thought to be represented in multiple brain areas. The mechanisms of action of TMS are known on a basic level, but its effect on the activation state of brain tissue is still poorly understood. Clinical applications of TMS have also been proposed and guidelines for its safe use drafted.