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PubMed1998

Iron overload, public health, and genetics: evaluating the evidence for hemochromatosis screening.

Population screening for hemochromatosis done by using the transferrin saturation test has been advocated by experts to permit the initiation of therapeutic phlebotomy before the onset of clinical disease. The discovery of a gene associated with hemochromatosis has made DNA testing another option for screening and diagnosis. In this paper, U.S. Preventive Services Task Force criteria are used to evaluate the evidence for the usefulness of population screening done by using iron measures or genetic testing. Published clinical research offers little evidence to suggest that population screening for hemochromatosis done by using genetic testing improves clinical outcomes. Although one recently discovered mutation, C282Y, accounts for 60% to 92% of cases of the disease in series of patients with hemochromatosis, uncertainties remain about the clinical penetrance of various genotypes; the accuracy of genetic testing; and the ethical, legal, and social effects of genetic testing. Before population screening for hemochromatosis done by using transferrin saturation testing can be recommended, laboratory standardization needs to be addressed and questions about risk for clinical disease in asymptomatic persons with mutations or early biochemical expression of disease require resolution. Evidence from case series suggests that hemochromatosis may be associated with liver cancer, other liver disease, diabetes, bradyarrhythmias, and arthritis. In all studies but one, however, estimation of the magnitude and significance of this risk is limited by lack of adequate comparison groups. The need for population data to answer questions about penetrance among asymptomatic persons should not impede efforts to increase the detection and treatment of hemochromatosis in persons found to have elevated iron measures a family history of hemochromatosis, or consistent early signs and symptoms of the disease.

Hemochromatosis↗
PubMed1997

Resource document for curriculum development in cancer genetics education. American Society of Clinical Oncology.

PURPOSE: The rapid growth in the use of genetic testing for heritable cancers and other diseases has led to the establishment of many committees to assess the status and future implications of such testing. The American Society of Clinical Oncology (ASCO) published a statement on genetic testing for cancer susceptibility in May 1996. In that statement, ASCO recognized the need for a major initiative to develop courses and other educational materials for ASCO members and other health care professionals that were pertinent to cancer genetics and the role of cancer predisposition testing in clinical oncology. These curriculum guidelines represent an effort to promote formal instruction on the assessment and management of familial cancer risks in training programs and continuing education courses. DESIGN AND RESULTS: An Ad hoc Task Force was created from the ASCO membership and other professional organizations. Goals of ASCO's cancer genetics education initiative, curriculum guidelines, and plans for implementation of the curriculum have been developed. To gain understanding and competency in cancer genetics and cancer predisposition testing, the curriculum emphasizes formal instruction in: (1) basic concepts and principles of genetics; (2) an understanding of the role of genetics in the etiology, diagnosis, and management of different malignancies; (3) an understanding of the ethical, legal, and social issues that surround predisposition testing; and (4) long-term management plans for individuals at high risk for cancer. This document is broad in scope and applicable to all types of malignancies. It should be considered as the framework around which cancer genetics education is developed. It is expected that implementation of training activities over the next few years will allow ASCO to fulfill its obligations to the membership. CONCLUSION: This curriculum should prove a valuable guide to those who wish further education on cancer genetics and the appropriate use of cancer predisposition testing.

Curriculum↗
PubMed1993

Ethics, genetic prediction, and heart disease.

As we identify genes predictive of diseases such as heart disease, stroke, or cancer, we may unwittingly deprive individuals and families at risk of such diseases from access to health care. This is a problem in distributive justice. Commercial health insurance is built along lines similar to other forms of commercial insurance in which the notion of "actuarial fairness" plays a key role. Actuarial fairness contends that parties seeking insurance ought to pay according to their respective risks of filing a claim. Underwriting is the process by which insurers estimate the likelihood that an applicant would be making a claim. The human genome project has brought the latent ethical problems in commercial health insurance to the surface. In the scenario feared by insurers, predictive genetic tests will filter into general medical practice. Individuals who learn that they are at increased risk of such disease are more likely to purchase insurance. Such behavior is known as "adverse selection" by the insurance industry. Individual companies, in an effort to avoid adverse selection, may seek genetic information about their prospective customers, and other companies may follow suit. Such a scenario has led to the establishment of a national Task Force on Genetic Information and Insurance under the aegis of the human genome project. The Task Force seeks to clarify the empirical and moral components of the controversy. Key questions include the social purpose of health insurance, whether adverse selection is a genuine concern in the context of genetic testing, and the appropriateness of risk underwriting for access to health care.(ABSTRACT TRUNCATED AT 250 WORDS)

Ethics, Medical↗
PubMedDate not supplied

Summary statement on quantitative cytochemistry (DNA and molecular biology): Task Force 8.

OBJECTIVE: To reach consensus on the application of quantitative cytochemical analysis of chromosomal and DNA aneuploidy in cervical cytopathology. CONCLUSION: The current Pap test has limited specificity to predict cancer and its truly progressive pre-malignant lesions. Infection with human papillomavirus may trigger genetic instability, hyperproliferation and immortalization of the cervical mucosa and cause cervical cancer. Several related molecular markers have been shown to be informative about this neoplastic process. Quantitative analysis of chromosomal and DNA aneuploidy has been shown to be an important tool for identifying (progression to) high grade squamous intraepithelial lesions. A high degree of standardization (material handling, calibration and quality control, measurement and interpretation of results) is required for accurate and reproducible measurements. Areas for further study are presented.

Aneuploidy↗
PubMed1998

Ethical guidelines of the Alzheimer Society of Canada.

Alzheimer's disease raises numerous ethical issues which vary and evolve over the course of the illness. In recognition of the need for ongoing discussion of these issues, the Alzheimer Society of Canada established a Task Force on Ethics in 1995. Through a process of "discourse ethics" and consultation on a national scale, the Task Force produced a series of guidelines dealing with the issues of: communicating the diagnosis, driving, respecting individual choice, quality of life, participation in research, genetic testing, the use of restraints, and end-of-life care. This manuscript presents a summary of these guidelines as well as a summary of the ideas on which they were based. It was the hope of the Society that the publication of these guidelines will serve to facilitate discussion of the ethics of care of those with Alzheimer's disease.

Alzheimer Disease↗
PubMed1989

Gene testing in autosomal dominant polycystic kidney disease: results of National Kidney Foundation workshop. Scientific Advisory Board of the National Kidney Foundation.

Until recently the diagnosis of hereditary disorders was dependent on the phenotypic manifestation of those disorders. This created considerable obstacles for effective genetic counseling and family planning in late onset disorders, such as polycystic kidney disease. Moreover, in autosomal dominant disorders there is sufficient clinically variability that diagnosis could not always be established with certainty. For example, in autosomal dominant polycystic kidney disease clinicians were appropriately reluctant to confirm the diagnosis in a 20-year-old, at-risk family member with only a few scattered renal cysts. Moreover, they were equally unwilling to definitively remove any risk of development of the disease from a 20-year-old with normal, noncystic kidneys. Within the last decade, gene linkage and other gene identification techniques have provided new methodologies to surmount these dilemmas. However, these techniques also have produced new questions. In order to provide some guidance to clinicians and investigators utilizing the methodologies of recombinant DNA, genetic linkage, and gene identification the American Society of Genetics commissioned a panel to provide initial guidelines regarding DNA banking. The National Kidney Foundation task force is in agreement with the concepts this group has outlined. However, specific guidelines for the use of genetic linkage techniques in autosomal dominant polycystic kidney disease appeared necessary with the commercial availability of this diagnostic test.

Adult↗
PubMed1997

[Relationship between learning behavior and genetic factor on immobility shown during forced swimming test].

The relationship between learning and genetic factor on immobility in mice during a forced swimming test (FST) has been studied. The duration of immobility during the FST did not change significantly after the administration of either scopolamine (2.5 mg/kg, ip) or cyclohexamine (150 mg/kg, ip), although both drugs produced impairment in the learning task. This suggests that the increase in immobility observed during the second trial of the FST may not be related to learning which could occur during the first trial. Concerning the strain difference, first, the duration of immobility in C3H mice was shorter than that in ICR, ddY, C57BL and BALB mice. Second, after receiving shock stress in a box, ICR, ddY and C57BL mice, but not C3H mice showed a marked decrease in locomotor activity when placed in the box again without shock. Also during the FST, both C57BL and ddY mice, but not C3H mice showed prolongation of immobility and reduction in swimming after shock stress. The changes in locomotor activity, and immobility and swimming during the FST caused by shock stress in ddY mice recovered to normal levels after treatment with imipramine. From these results, it is suggested that the immobility shown during the FST, which may be independent of learning and dependent on some genetic factor, is a suitable model of depression in animals.

Animals↗
PubMed1992

Genetic animal models of depression and ethanol preference provide support for cholinergic and serotonergic involvement in depression and alcoholism.

The present article summarizes some comparative studies of the Fawn-Hooded (FH) rat, a potential animal model of ethanol preference, and the Flinders Sensitive Line (FSL) rat, a potential animal model of depression. Both FH and FSL rats exhibit high degrees of immobility in the forced swim test and have difficulty learning a two-way active avoidance task. However, there were no differences between the FH and FSL rats in the elevated plus maze. Studies of ethanol preference indicated high rates of ethanol intake (greater than 4 g/kg) and preference (greater than 50%) in the FH rats, but low rates of ethanol intake (less than 1.1 g/kg) and preference (less than 20%) in FSL rats. It is concluded that the FSL rats exhibit behaviors consistent with their being an animal model of depression, whereas the FH rats exhibit features consistent with their being an animal model of both depression and alcoholism. Psychopharmacological challenges indicated that both FSL and FH rats were more sensitive to the hypothermic effects of oxotremorine, a muscarinic agonist. However, FSL rats were also more sensitive to serotonergic agonists, and some of the present results and other investigators have reported serotonergic subsensitivity in the FH rats. Thus, FSL rats exhibit both cholinergic and serotonergic supersensitivity, whereas FH rats exhibit cholinergic supersensitivity but normal or reduced serotonergic sensitivity. Progeny from a genetic cross between FH and FSL rats exhibit cholinergic supersensitivity and have high ethanol preference scores. These data are consistent with genetic models suggesting that ethanol preference may be influenced by dominant genes, whereas cholinergic sensitivity may be influenced by recessive genes.

8-Hydroxy-2-(di-n-propylamino)tetralin↗