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[Genetic aspects of man's adaptation to long-term space flight].

Human genetics may play an important role in medical support of prolonged space flights, which raise serious life sciences questions: what is a normal response or, more specifically, what is norm or pathology. This is a problem of general biology and is related to genetic specificity of every organism. The theoretical basis of pertinent researches is general genetics and cytogenetics with their concepts about the structure and function of the eukaryotic genome. The concept of an individual norm of man's responses is to a certain extent associated with the doctrine of constitutions. From the practical point of view it is suggested to use in space genetics an individual-constitutional approach and the term adaptophenotype (adaptive phenotype) which means a stable complex of genetic and phenotypical characteristics. It can be determined using clinical, genealogical, cytological, and molecular methods, methods of genetic markers, phenotypical analysis, etc. Genetic approaches help reveal not only individual hereditary parameters which manifest as signs but also latent pathological characteristics that may be used for cosmonaut selection. Identification of certain phenotypes of man, i. e. adaptophenotypes, that are suitable for life in space, also means identification of specific genotypes with their response norm at the level of the somatic cell genotype and at the level of a gamete. The role of space genetics is associated with the study of gene, chromosome and population levels of adaptation to long-term space missions. Until recently these levels of adaptation have been neglected. The program of studying human genetics in space proposed here covers both medical aspects and evolutionary approaches.

Adaptation, Physiological↗

Lack of association of delta-aminolevulinic acid dehydratase genotype with cytogenetic damage in lead workers.

OBJECTIVE: The objective of this study was to evaluate the correlations of genetic polymorphism of genotypes delta-aminolevulinic acid dehydratase (ALAD), blood lead levels (BLLs), zinc protoporphyrin (ZPP), sister chromatid exchanges (SCEs), and high SCE frequency cells (HFCs) in lead workers. METHODS: Three groups of lead workers were included in the study: high lead exposure group (26 workers), low lead exposure group (31 workers) and control group (30 controls who lived in an area uncontaminated by lead). Blood samples were taken from all subjects and analyzed for lead levels, ALAD genotype and SCE levels. RESULTS: Occupationally exposed workers had significantly higher BLLs, ZPP and hemoglobin levels than the controls. There were no differences among the three groups regarding percentages of ALAD 1-1 and ALAD 1-2 genotypes, but the ALAD 2-2 genotype was not detected in any of the three groups. There were no significant differences among the three groups for BLLs, ZPP and hemoglobin levels based on ALAD 1-1 and ALAD 1-2. Average SCE values in the high lead exposure group were significantly greater than those in the control group (6.2 vs 5.2 SCEs/cell, P < 0.05). HFC analysis revealed a significantly higher HFC percentage (53.9%) in the high lead exposure group than in the low lead exposure group (16.1%) and the control group (10%). There appeared to be an interaction effect on HFC percentages between smoking and lead exposure. When multiple regression analysis was used, the factors that affected SCE levels were lead exposure and smoking, but ALAD genotypes did not have any significant effect. CONCLUSIONS: A significant association existed between both SCE and HFC levels and lead exposure. However, different ALAD genotypes were not found to be associated with levels of blood lead and ZPP in the three groups.

Adult↗

Genetic counselors and research: current practices and future directions.

Members of the genetic counseling community have debated the need for doctoral degree programs to further advance the profession. However, genetic counselors' interest in conducting independent research and attitudes toward obtaining a doctoral degree in genetic counseling has not been assessed in more than a decade. We designed a comprehensive web-based survey to characterize the current research values and practices of genetic counselors. Respondents were asked to self-report their current research involvement, their specific role in research activities, and their interest in performing research in the future. The study showed that a significant number of genetic counselors (84.5%) have conducted previous research, and 69.4% of respondents plan to perform research in the future. These results reflect the maturation of the genetic counseling field, in that a substantial number of genetic counselors consider active involvement in research to be a core role. The study also showed that 34.1% of respondents have high interest in a hypothetical PhD in Genetic Counseling, suggesting that the profession is primed for the development of doctoral degree training options.

Adult↗

New developments in genetics-knowledge, attitudes and information needs of practice nurses.

BACKGROUND: In response to increased referrals to geneticists and the predicted patient demand for genetic counselling, it has been proposed that some genetics services should be provided in primary care. Practice nurses are ideally placed to collect family history information and advise patients accordingly in new patient, family planning, well women/men and chronic disease clinics, but little is known about their knowledge, skills and attitudes towards providing genetic advice. OBJECTIVES: The survey aimed to measure the current situation with regard to: the prevalence of family history recording by practice nurses; confidence in collecting and acting upon family history; and practice nurses' knowledge about familial disorders and genetics. It also investigated what practice nurses think their role should be in relation to the delivery of genetic services; their educational needs; and the most appropriate ways of delivering training/support. METHODS: A postal questionnaire survey was carried out of all practices nurses (n = 909) in four Health Authorities in England (Oxfordshire, Northamptonshire, Nottingham and North Nottinghamshire) and one Health Board in Scotland (Lothian). Analyses were primarily descriptive. RESULTS: A total of 600 nurses (response rate = 66.0%) returned a completed questionnaire. Ninety-six per cent of practice nurses reported that they routinely collect family history information. Over half of the respondents had been consulted in the previous 3 months by patients with a worry about family history of cancer. Approximately 60% of nurses felt confident about collecting the relevant details regarding a family history of breast cancer but felt less confident in collecting the information regarding familial colorectal cancer. Nurses were also unsure how to proceed, with over a third of nurses referring patients to the GP even if they thought the patient was at population risk or, conversely, not referring those that they thought were at considerably higher risk to the GP. There was a reported need for education about familial disease in general and overall agreement that nurses could play a role in genetics in primary care. CONCLUSION: This study provides evidence of considerable activity from practice nurses regarding routine collection of family history. There is a need for further education for practice nurses regarding family history information and the new genetics so that this information is managed appropriately.

Clinical Competence↗

Primary care physicians' utilization and perceptions of genetics services.

PURPOSE: To document primary care physicians' utilization and perceptions of genetics services. METHODS: A randomized survey of physicians in the Pacific Northwest. RESULTS: The greatest factor prompting a genetics referral was the patient's interest in the evaluation, and the most common reason not to obtain a consultation was the perception that it was of no benefit to the patient. Genetics consultation was rarely sought for a family history of cancer or for deafness, polycystic kidney disease, or congenital heart disease. Even when uncertain about relative risk, physicians usually counseled a patient themselves rather than referring to a specialist. CONCLUSION: Primary care physicians need more education about the genetic component of many diseases to provide directly and to refer appropriately for genetics services.

Attitude of Health Personnel↗

A decade of international change in abortion law: 1967-1977.

Modern thinking on abortion, reflected in recent legal developments around the world, has turned from concentration upon criminality in favor of female and family well-being. New laws enacted during the last decade are coming to focus upon conditions of health and social welfare of women and their existing families as indications for lawful termination of pregnancy. Regulations governing the delivery of services may be restrictive, however, so as to limit in practice access to means of safe, legal abortion made available in theory. Requirements may be imposed that only medical personnel with unduly high qualifications perform procedures, or that they be undertaken only in institutions meeting standards higher than similar health care requires. Approval procedures may be established involving second medical opinions or committees to monitor observance of the law, which may delay abortions and therefore increase their hazards. Parental and spousal consent requirements may exist in addition with the same effects, or to veto a pregnant female's request. Regulations may be employed more positively, however, to encourage contraceptive practice. A disappointment with legislative reform is that it may fail to improve circumstances if public resources are not applied to achieve the supply of services newly rendered legitimate, and illegal practice may persist.

Abortion, Legal↗

Health and family planning services in Bangladesh: a study in inequality.

The development of health and family planning services in Bangladesh is examined in the context of the country's political economy. Inequities of power, influence, opportunity, and the ownership and distribution of assets and income are seen to lie at the root of the "Bangladesh crisis." In this, the country is not unlike many others in the Third World, only more so. The internal and external pressures which have contributed to a coercive attitude toward the problem of too rapid population growth are discussed. The allocation of Bangladeshi health service resources is examined in terms of expenditure, manpower, and facilities; they are found to be both inequitably distributed and inefficiently applied. Some alternatives to present patterns of development are touched upon. It is concluded that despite the country's poverty, most people do not have to go without basic primary health care (including family planning), which can be afforded even by countries as economically impoverished as Bangladesh.

Bangladesh↗

Delivery of genetic screening services.

This paper describes the genetic services in the United Kingdom and how the evolution of genetic screening services is taking place. Since these Community Genetic Services depend on the offer of a screening test that affects the whole population, it is essential that the community is given genetic education and an opportunity to discuss the issues before services are initiated. In this way, the differing beliefs and needs of individual communities are appropriately taken into account. The development of screening services for cystic fibrosis will show whether this community-orientated model can be successful.

Community Health Services↗

Preliminary report on a prepregnancy counselling clinic.

Although prepregnancy counselling is given within the health service at various clinics there remains a need for patients with specific medical and obstetric problems to receive specialist advice. An analysis of the first 200 patients referred to a prepregnancy counselling clinic is given here to outline the function of such a service.

Abortion, Spontaneous↗

Prenatal influences on brain dopamine and their relevance to the rising incidence of autism.

The incidence of autism has risen 10-fold since the early 1980s, with most of this rise not explainable by changing diagnostic criteria. The rise in autism is paradoxical in that autism is considered to be one of the most genetically determined of the major neurodevelopmental disorders and should accordingly either be stable or even declining. Because a variety of epigenetic influences, particularly those occurring during the prenatal period, can override or masquerade as genetic influences, these should be considered as prime contributors to the recent increase of autism. Prenatal influences on dopamine activity are especially well-documented, including the effects of maternal psychosocial stress, maternal fever, maternal genetic and hormonal status, use of certain medications, urban birth, and fetal hypoxia. All of these factors have been implicated in the genesis of autism, which is characterized by a "hyperdopaminergic" state based on evidence from monkey and human behavioral studies, pharmacological studies in humans, and a left-hemispheric predominance of both dopamine and autistic-like symptoms. Chronically high maternal levels of dopamine caused by the pressures of increasingly urbanized societies and by changing maternal demographics such as increased workforce participation, educational achievement level, and age at first birth, may be especially significant epigenetic contributors to the recent autism rise.

Autistic Disorder↗

Defining and redefining the scope and goals of genetic counseling.

Many definitions of genetic counseling have been proposed since Sheldon Reed first defined the term in 1947. This study reviews selected definitions of genetic counseling including the most recent definition proposed by a committee of the National Society of Genetic Counselors. The analysis focuses on the professional background of who was formulating the definition; the reasons why the definition was created; medical, historical, and social factors; and the definer's implicit or explicit goals of genetic counseling. No definition of genetic counseling is ideal, and any definition can only reflect the values, ethics, goals, and medical practices of the person or group defining the practice of genetic counseling.

Eugenics↗

The new Silk Road.

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Academies and Institutes↗

Interaction of HLA phenotype and exposure intensity in sensitization to complex platinum salts.

The development of sensitization to inhaled allergens is determined by the interaction of multiple genetic and environmental influences. Occupational sensitization to low-molecular-weight chemicals allows a specific immunological response to an inhaled hapten to be studied in a well-defined population with characterized exposure. We investigated the workforce of a large platinum refinery exposed to ammonium hexachloroplatinate (ACP) to test the hypothesis that the development of IgE-associated sensitization to ACP was influenced by human leukocyte-associated antigen (HLA) phenotype, especially in those with lower ACP exposure. We performed HLA typing in 44 cases with a positive skin prick test to ACP, and 57 nonsensitized referents matched on age, race, duration of employment, and category of ACP exposure. An HLA-DR3 phenotype was more common among cases (odds ratio [OR] 2.3), and more so in those with low (OR infinite) than with high exposure (OR 1.6); HLA-DR6 was less common among the cases (OR 0.4), an association also stronger in the low-exposure group (OR 0.1 versus 0.5). These results provide evidence that HLA phenotype is a significant determinant of sensitization to complex platinum salts and for the first time show that the strength of this association varies with intensity of exposure to the sensitizing agent. They imply that as exposure-control measures are taken to prevent occupational sensitization and, by analogy, sensitization to allergens outside the workplace, disease incidence will increasingly be determined by genetic susceptibility.

Adult↗