Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling

Sudden infant death syndrome (SIDS) is defined as the sudden and unexpected death of an apparently healthy infant under 1 year of age. Routine autopsies often provide few clues as to the cause of death and rarely include a biochemical evaluation. Genetic counseling for SIDS can be difficult as recurrence risks vary depending on the age at death and the number of deaths which have occurred in the family. Biochemical disorders may account for up to 5% of SIDS. Of the metabolic disorders known to be involved in SIDS, the most commonly found is medium-chain acyl CoA dehydrogenase deficiency (MCAD). MCAD is an autosomal recessive disorder of fatty acid oxidation which accounts for up to 1% of SIDS. For some families, the addition of a postmortem biochemical investigation can identify an unsuspected metabolic disorder as the cause of death. Once the diagnosis is established, accurate genetic counseling can then be provided. Metabolic testing of the surviving siblings of victims of sudden death, and the subsequent identification of those due to MCAD can prevent the tragedy of recurrent SIDS in some families. In addition, screening the survivors of an acute life threatening event (ALTE) may also prevent a recurrence.     

Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications

Predictive testing for Huntington disease is presently offered in a select few medical genetics centers in the United States. This is in part due to the labor intensive counseling and psychological testing suggested by the research protocols. We discuss some specific suggestions for establishing programs for Huntington disease predictive testing within pre-existing medical genetics clinics to encourage more centers to offer presymptomatic testing. This will allow more at risk individuals the opportunity to consider predictive testing and cut down the expenses of traveling to the few predictive testing centers that currently exist. The counseling principals will remain similar to those discussed here, even following the identification of the Huntington disease mutation.     

Curriculum Evaluation and Assessment of Multicultural Genetic Counselor Education

Multicultural competence in genetic counseling integrates racial-cultural knowledge, awareness, and skills into clinical interventions and research practices. Researchers and educators often cite racial-cultural factors as obstacles for visible racial-cultural people seeking help. However, the professional's unfamiliarity of how his or her own racial-cultural group affiliations are influenced by the history of discrimination and oppression coupled with their lack of self-understanding of racial-cultural issues for him- or herself has also limited the effectiveness of genetic counseling. The purpose of this study is to evaluate the effectiveness of the Handbook of Cross-Cultural Genetic Counseling, a multicultural curriculum developed for genetic counselor education for increasing multicultural counseling competence. The multicultural curriculum was evaluated for its effectiveness of increasing multicultural counseling competence using a nonequivalent control group design. A participant's multicultural counseling competence was hypothesized to increase after being taught the curriculum. The curriculum was effective for increasing multicultural counseling competence. Additionally, achieved multicultural counseling competence was not influenced by when the curriculum was taught. Trend analyses measuring the longitudinal impact of the curriculum on multicultural competence were significant. Implications of the results are discussed.     

Sociobiology and Moral Discourse

In the intellectual lineage of sociobiology (understood as evolutionary social science), this article considers the place of moral discourse in the evolution of emergent systems for mediating behavior. Given that humans share molecular systems, reflex systems, drive systems, emotional systems, and cognitive systems with chimpanzees, why is it that human behavior is so radically different from chimpanzee behavior? The answer is that, unlike chimps, humans possess symbolic systems, empowering them to override chimplike default morality in favor of symbolically mediated moral codes. The article concludes with a brief discussion of the power of religious symbols to influence moral behavior by reprogramming emotional systems.     

Expressing the Nature and Meaning of DNA: Six Books for Teachers and Students

DNA is an important agent not only in chemistry and biology but also in technology and modern culture. A number of books approach the double helix from different angles. These perspectives include (1) the science of DNA and genetics; (2) genetic engineering; (3) the ethics of manipulating genetic material; and (4) DNA in culture and religion. Various views of DNAprovide insights into human nature beyond its molecular composition.     

Closeness or compassion? Relatedness and causal control influence helping via distinct pathways

ABSTRACT

Why do people feel compassion? Two largely separate research literatures – one driven by evolutionary psychology and one driven by attribution theory – have shown that feelings of compassion for needy individuals and subsequent helping are predicted by both genetic relatedness and causal control. Research also suggests that emotional closeness, rather than compassion, motivates help for family. In two studies, we tested the role of genetic relatedness and control on cognitive and emotional mediators of helping. Results revealed that relatedness and control had distinct and independent effects on willingness to help needy individuals that were mediated by emotional closeness and compassion, respectively. These results provide a unique bridging of disparate literatures and suggest that emotional closeness and compassion serve distinct functions in facilitating prosocial behavior.     

L’ADN,la reine des preuves imparfaites

Due to the progress of science and the stakes of inquiry and sentence, the DNA analysis is subject of a substantial development within the area of criminal procedure. However, the DNA is by no means a perfect evidence and it faces scientific, ethic and legal limits which result in reconsidering the balance between the stakes of punishment and the protection of Fundamental Freedoms.     

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors

The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.