Genetic counseling as an occupational specialty: A sociological perspective

Abstract

Observations of client‐counselor interaction during genetic counseling sessions at a metropolitan hospital on the West Coast identified five major problems with which genetic counselors had to deal. Their clients needed: (1) a diagnosis of the disease condition; (2) an evaluation of the genetic nature of the condition; (3) to be taught biomedical information; (4) assistance in coping with psychological stress; and (5) information on available community resources and social service support. The genetic counselors under observation tended to satisfy the clients’ first two needs, the need for a diagnosis and for a genetic evaluation, but they tended not to satisfy the clients’ needs in the areas of education and psychosocial counseling. Genetic counseling appears to demand a synthesis of five different professional skills, those of the medical doctor, the geneticist, the educator, the psychotherapist, and the social worker. These findings are discussed in terms of their relevance for creating programs for training genetic counselors.     

The role of knowledge and spatial contexts in biodiversity policies: a sociological perspective

In policy processes, biodiversity has been broadened into a holistic notion uniting a variety of cultural, social and economic issues with the biological conservation issue. Therefore, the formation of biodiversity conservation into concrete policy goals appears rather difficult. In this paper, we aim to explore the political implications and consequences of the strong dependency on science of the biodiversity issue. Concentrating especially on environmental policy options, we also examine the globalization and localization processes in the case of biodiversity. In spite of several controversial features and of an evident lack of knowledge on biological diversity, the issue undoubtedly has significant political strengths. However, from the viewpoint of research on environmental policies, the role of scientific knowledge in decision making should be recognized as an open empirical question depending on the concrete contexts of the decision-making process. Further, it is concluded that the concepts relating to global environment are objects of a continuous localization. Thus, any moral-technocratic solutions emphasizing simply universal interests as the basis for global biodiversity management must be met with caution. In future research there is a need for concrete case studies in order to clarify the local conditions and opportunities of biodiversity policies.     

Motor neurone disease: a hospice perspective.

OBJECTIVE--To describe and evaluate the management of patients with motor neurone disease from the perspective of a hospice. DESIGN--Retrospective analysis of hospice medical and nursing notes. SETTING--Established 62 bed teaching and research hospice. SUBJECTS--124 patients with motor neurone disease cared for by the hospice between January 1980 and November 1990. MAIN OUTCOME MEASURES--Patient profile; functional status; symptom control and use of opioids; insight; mode and management of death. RESULTS--124 patients (67 women, 57 men) had a mean age 63.9 years. The median length of admission was 61.5 days (range 1 to 2147). 84 patients (68%) were aware of their diagnosis and its implications when first seen by a hospice doctor. Functionally, the patients were very dependent. Symptoms such as pain, dyspnoea, and insomnia were major problems that responded well to opioids. Many patients were noted to deteriorate "suddenly," and in 58% of cases death occurred within 24 hours of this deterioration. When dying, 106 patients (94%) were peaceful and settled. 101 patients (89%) received opioids during this dying period. No patient chocked to death. CONCLUSIONS--Although motor neurone disease is an uncommon disorder, many of its symptoms occur commonly in medical practice and must be actively treated. Opioids are both safe and effective for such treatment. The term chocking is both inaccurate and inappropriate in describing the cause of death in motor neurone disease and its use should be abandoned.     

Chagas disease: Historic perspective

This review is a perspective on the history of Chagas disease, and it adopts a novel approach from literary studies, historical documents and the science and epidemiology of the nature of the disease. From this analysis, comes the review's working definition of the Contact Zone (CZ): “the space in which geographically and historically separated people come into contact with each other and establish long-lasting relationships, which usually involve coercive conditions, radical inequality and intolerable conflict.”In the Patient-Physician CZ, we verified the triple transition phenomena: the American trypanosomiasis shifted from a rural, acute, and vectorial transmitted disease to an urban, chronic and non-vectorial disease.In the Academic CZ, we describe the original disagreements which denied the existence of the disease and the current controversies about pathogenic mechanisms and etiological treatment.From the News from Latin America, and in the Original CZ, we will review the evolution of different forms of transmission.As in any good story, research across broad disciplines is necessary to reveal historical perspectives, scientific approaches, and the epidemiology of the disease, which has a prequel of 9000 years and an open ending: thus, we explore across the Global CZ, with its multiple and unexpected actors.     

Global transboundry disease politics: the OIE perspective

Reviewed in this paper are the steps for listing or de-listing of an aquatic animal disease, the current list of OIE listed aquatic animal diseases, and the reporting requirements for listed diseases by member countries. The current OIE listed aquatic animal diseases includes two diseases of amphibians, nine of fish, seven of mollusks, and eight of crustaceans. Of interest is the difference in importance of the listed diseases in each of the four groups of aquatic animals. In mollusks, parasitic diseases dominate the list, while in fish and crustaceans virus diseases are dominant. Whether a listed disease is due to a virus, fungus, bacterium or a parasite, the occurrence of the disease may adversely affect international trade among trading partners that have, or do not have, the listed disease. By its very nature, the international trade in terrestrial animals and aquatic animals, and their products, is influenced by national and international politics. When the occurrence of an OIE listed or emerging disease becomes an issue between trading partners, trade restrictions may be put in place and disputes are often a consequence. The World Trade Organization named the OIE as the reference body for animal health as it relates to international trade. This action recognized the 88 year history of the work by the OIE in disease control, listing of diseases, the development of the terrestrial and aquatic codes and the diagnostic manuals, and the prompt notification of members by the OIE of the occurrence of listed diseases. The intent of the WTO with this action was likely to minimize disease related trade disputes brought before the WTO.     

Neurotrophic factors and neurologic disease.

Discovered only 40 years ago, nerve growth factor is the prototypic neurotrophic factor. By binding to specific receptors on certain neurons in the peripheral nervous system and brain, nerve growth factor acts to enhance their survival, differentiation, and maintenance. In recent years, many additional neurotrophic factors have been discovered; some are structurally related to nerve growth factor while others are distinct from it. The robust actions of neurotrophic factors have suggested their use in preventing or lessening the dysfunction and death of neurons in neurologic disorders. We review the progress in defining neurotrophic factors and their receptors and in characterizing their actions. We also discuss some of the uses of neurotrophic factors in animal models of disease. Finally, we discuss how neurotrophic factors could be implicated in the pathogenesis of neurologic disorders.     

Parkinson's disease: a genetic perspective

Parkinson's disease (PD) is a common neurodegenerative disorder in the aging population, affecting more than 1% over the age of 65 years. Certain rare forms of the disease are monogenic, representing 5-10% of PD patients, but there is increasing evidence that multiple genetic risk factors are important also for common forms of PD. To date, 13 genetic loci, PARK1-13, have been suggested for rare forms of PD such as autosomal dominant and autosomal recessive PD. At six of these loci, genes have been identified and reported by several groups to carry mutations that are linked to affected family members. Genes in which mutations have been linked to familial PD have also been shown to be candidate genes for idiopathic forms of PD, as those same genes may also carry other mutations that merely increase the risk. Four of the PARK genes, SNCA at PARK1, UCH-L1 at PARK5, PINK1 at PARK6 and LRRK2 at PARK8, have been implicated in sporadic PD. There are indeed multiple genetic risk factors that combine in different ways to increase or decrease risk, and several of these need to be identified in order to begin unwinding the causative pathways leading to the different forms of PD. In this review, we present the molecular genetics of PD that are understood today, to help explain the pathways leading to neurodegeneration.     

Social and economic drivers shaping the future of biological control: A Canadian perspective on the factors affecting the development and use of microbial biopesticides

Globally, the use of biopesticides is growing annually while the use of traditional pesticides is on the decline. North America uses the largest percentage of the biopesticide market share at 44%, followed by the EU and Oceania with 20% each, South and Latin American countries with 10%, about 6% in Asia and India. Although biopesticide growth is projected at 10% annually, it is highly variable among the regions constrained by factors such as regulatory hurdles, public and political attitudes, and limitations for market expansion. Microbial biopesticides have been registered in Canada for 35 years, but the number of registrations for commercial, restricted-industry and domestic uses has significantly increased over the past 10 years. The early Canadian biopesticides registered by pest control category were Bacillus thuringiensis in 1972 as the first bioinsecticide, Agrobacterium radiobacter in 1989 as the first biobacteriocide, Colletotrichum gloeosporioides f.sp. malvae in 1992 as the first bioherbicide, and Streptomyces griseoviridis in 1999 as the first biofungicide. Between 1972 and 2008, the Pest Management Regulatory Agency approved registration of 24 microbially active substances with 83 formulations. The majority of the registrations (55/83) occurred since 2000 and at the beginning of 2008 there were 10 new products (a combination of new active substances, strains, formulations, and uses) under regulatory evaluation. This paper examines the evolution of microbial biopesticides in Canada illustrating how the actions of the government, the people, and the industry have led to changes in legislation, policy, and programming that spurred momentum for new microbial pest control products in recent years and created a model system for future microbial biopesticide discovery, development, and implementation that could be adopted throughout the world.