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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↗
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↗
PubMed1998

Genetic family history assessment.

The purpose of this article is to familiarize nurses with why, how, when, and where a genetic family history assessment should be used in clinical practice. Pedigrees are diagrams that display the relationship among family members by using a combination of symbols and lines. They are used to record concisely a complete family history to identify the risk of transmitting inherited condition, to identify people at risk for development of adult-onset conditions, to aid in clinical diagnosis, and to serve as a reference for social and biologic relationships. A detailed explanation of the standardized pedigree nomenclature that was recommended by the Pedigree Standardization Task Force in 1995 is included. Step-by-step guidelines on taking a genetic family history and drawing pedigrees are provided. A case study is also included to illustrate pedigree construction.

Adult↗
PubMed1991

The WHO Task Force on Vaccines for Fertility Regulation. Its formation, objectives and research activities.

Over the past 18 years, the WHO Task Force on Vaccines for Fertility Regulation has been supporting basic and clinical research on the development of birth control vaccines directed against the gametes or the preimplantation embryo. These studies have involved the use of advanced procedures in peptide chemistry, hybridoma technology and molecular genetics as well as the evaluation of a number of novel approaches in general vaccinology. As a result of this international, collaborative effort, a prototype anti-HCG vaccine is now undergoing clinical testing, raising the prospect that a totally new family planning method may be available before the end of the current decade.

Animals↗
PubMed1990

Mouth asymmetry during speech of epileptic patients who have undergone carotid amytal testing.

Asymmetry in the opening of the two sides of the mouth during speech has been suggested as an observable correlate of lateralization of cerebral speech motor control. For 24 epileptic patients who suffered speech disturbance only during left hemisphere carotid amytal anesthetization, 22 showed the expected greater opening of the right side of the mouth during a repetition task. However, all four of the patients who suffered speech disturbance following only right hemisphere anesthetization, and 8 of the 11 "bilateral speech" patients, also showed greater opening of the right side of the mouth. The speech dominant patients may, however, have genetic left speech dominance but a pathology-forced shift of some components of language to the right hemisphere. Basic mouth asymmetry, as measured here, may primarily reflect lateralization of a component of the motor/speech/language control system that may not be shifted by pathology in epileptic patients sustaining early brain insult. Relative change in mouth asymmetry as the speech task becomes more demanding may, however, be a more sensitive indicator or cerebral asymmetries for language in pathological cases.

Adolescent↗
PubMed1997

Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium.

OBJECTIVE: To provide recommendations for cancer surveillance and risk reduction for individuals carrying mutations associated with hereditary nonpolyposis colon cancer (HNPCC). PARTICIPANTS: A task force with expertise in medical genetics, oncology, primary care, gastroenterology, and epidemiology convened by the Cancer Genetics Studies Consortium (CGSC), organized by the National Human Genome Research Institute (previously the National Center for Human Genome Research). EVIDENCE: Studies evaluating cancer risk, surveillance, and risk reduction in individuals genetically susceptible to colon cancer were identified using MEDLINE and bibliographies of articles thus identified. Indexing terms used were "genetics" in combination with "colon cancer," and "screening" in combination with "cancer family" and "HNPCC." For studies evaluating specific interventions, quality of evidence was assessed using criteria of the US Preventive Services Task Force. CONSENSUS PROCESS: The task force developed recommendations through discussions over a 14-month period. CONCLUSIONS: Efficacy of cancer surveillance or other measures to reduce risk in individuals who carry cancer-predisposing mutations is unknown. Based on observational studies, colonoscopy every 1 to 3 years starting at age 25 years is recommended for individuals known to have HNPCC-associated mutations. Endometrial cancer screening is also recommended, based on expert opinion concerning presumptive benefit. No recommendation is made for or against prophylactic surgery (ie, colectomy, hysterectomy); these surgeries are an option for mutation carriers, but evidence of benefit is lacking. It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.

Adaptor Proteins, Signal Transducing↗
PubMed1998

Aneuploidy: a report of an ECETOC task force.

Aneuploidy plays a significant role in adverse human health conditions including birth defects, pregnancy wastage and cancer. Although there is clear evidence of chemically induced aneuploidy in experimental systems, to date there are insufficient data to determine with certainty if chemically induced aneuploidy contributes to human disease. However, since there is no reason to assume that chemically induced aneuploidy will not occur in human beings, it is prudent to address the aneugenic potential of chemicals in the safety assessment process. A wide range of methods has been described for the detection of chemically induced aneuploidy including subcellular systems, tests with fungi, plants and Drosophila as well as in vitro mammalian systems and in vivo mammalian somatic and germ cell assays. However, none of these methods is sufficiently validated or widely used in routine screening. Underlying the efforts to develop aneuploidy-specific assays is the presumption that current genetic toxicology tests do not detected chemicals that have aneuploidy-inducing potential. To address this, we have critically evaluated data from standard genetic toxicology assays for 16 known or suspected aneugens. The conclusions from the review are listed below. 1. At present there are only nine chemicals that can be classified as definitive aneugens, as determined by positive results in in vivo rodent assays. 2. As expected, the majority of definitive and suspected aneugens are negative in the bacterial mutation assay. 3. The majority of definitive aneugens evaluated induce polyploidy in vitro. With few exception, they also induced structural chromosome aberrations in vitro. 4. All of the definitive aneugens that have been sufficiently tested induce micronuclei in rodent bone marrow cells in vivo. A number of these chemicals also induced structural chromosome aberrations in vivo. 5. There is no evidence for a unique germ cell aneugen, that is a chemical that induces aneuploidy in germ cells and not in somatic cells. Furthermore, an analysis of several databases indicates the proportion of chemicals which induce polyploidy and not chromosome aberrations in vitro is low. Based on these conclusions, the following recommendations are made: for screening purposes, a standard genotoxicity test battery (including an in vitro cytogenetic assay with an assessment of polyploidy and clastogenicity at the same harvest time) should be performed; in the absence of polyploidy induction in vitro no further evaluation of aneuploidy-inducing potential is needed; if polyploidy is observed, in vitro follow-up testing to investigate further the aneuploidy-inducing potential should be conducted; such follow-up testing will generally start with the conduct of a standard in vivo somatic cell micronucleus assay; if the in vivo somatic cell micronucleus assay is negative, with adequate evidence of exposure of the bone marrow to the test compound, no further testing of aneuploidy-inducing potential is needed; if the in vivo somatic cell micronucleus assay is positive, further information on mechanisms of micronucleus induction can be obtained by using kinetochore/centromeric staining in vitro and/or in vivo; an assessment of potential germ cell aneuploidy activity may then be considered; aneuploidy induction which does not involve the direct interaction of a chemical or its metabolite(s) with DNA is expected to have a threshold. This must be considered in the risk assessment of such chemicals; this is not addressed by current risk assessment guidelines.

Abnormalities, Drug-Induced↗
PubMed1997

Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium.

OBJECTIVE: To provide recommendations for cancer surveillance and risk reduction for individuals carrying mutations in the BRCA1 or BRCA2 genes. PARTICIPANTS: A task force with expertise in medical genetics, oncology, primary care, gastroenterology, and epidemiology convened by the Cancer Genetics Studies Consortium (CGSC), organized by National Human Genome Research Institute (previously the National Center for Human Genome Research). EVIDENCE: Studies evaluating cancer risk, surveillance, and risk reduction in individuals genetically susceptible to breast and ovarian cancer were identified using MEDLINE (National Library of Medicine) and from bibliographies of articles thus identified. Indexing terms used were "genetics" in combination with "breast cancer," "ovarian cancer," and "screening," or "surveillance" in combination with "cancer family" and "BRCA1" and "BRCA2." For studies evaluating specific interventions, quality of evidence was assessed using criteria of the US Preventive Services Task Force. CONSENSUS PROCESS: The task force developed recommendations through discussions over a 14-month period. CONCLUSIONS: Efficacy of cancer surveillance or other measures to reduce risk in individuals who carry cancer-predisposing mutations is unknown. Based on expert opinion concerning presumptive benefit, early breast cancer and ovarian cancer screening are recommended for individuals with BRCA1 mutations and early breast cancer screening for those with BRCA2 mutations. No recommendation is made for or against prophylactic surgery (eg, mastectomy, oophorectomy); these surgeries are an option for mutation carriers, but evidence of benefit is lacking, and case reports have documented the occurrence of cancer following prophylactic surgery. It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.

Antineoplastic Agents, Hormonal↗
PubMed1993

Genetic information and health insurance. Report of the Task Force on Genetic Information and Insurance. NIH/DOE Working Group on Ethical, Legal, and Social Implications of Human Genome Research.

One of the ironies in the current health care coverage crisis is that developing more accurate biomedical information could make things worse rather than better. In the current American health care system, information about an individual's risk of disease plays a crucial role for many people in determining access to health care coverage. This link between the likelihood of needing health care and the ability to obtain coverage for that care has the unfortunate result that those most in need may have the greatest difficulty finding affordable health care coverage. New advances in human genetics are transforming medicine by making available increasing amounts of such information about risk. Biomedical science and the delivery of health care are being reshaped by advances in our understanding of human genetics. New insights into health and disease, new diagnostic and prognostic tests and the possibility of new therapies reflect significant investments by the public and by private business and are no longer limited to the uncommon disorders traditionally labeled as "genetic diseases." Among the first products of genetic research is information useful in predicting the likelihood that an individual will develop particular diseases, opening the door both to preventive strategies that we would welcome, such as changes in diet and exercise patterns, and to the unwelcome possibility of genetic discrimination. Injecting information about genetic risks into the current health care system could result in ever more refined risk rating by insurers and ever greater difficulty in finding affordable health care coverage for large numbers of people. At a minimum, people could be discouraged from obtaining genetic information that might be useful in disease prevention and early treatment or for case planning and management because that same information could jeopardize their access to health care coverage in general, or to treatment for a condition excluded from coverage because it was "pre-existing." Under other circumstances people might be compelled to provide genetic information as a condition of obtaining affordable health care coverage. Genetic risk information carries an additional, wider burden because information about an individual's genetic health risks may also be information about the risks of children, parents, brothers, sisters, and other relatives. One suggested approach--providing special protection for genetic information--is unlikely to succeed. This special protection has been suggested because of the relevance of genetic information to family members and its implications for reproductive choices, potential discrimination and stigmatization.(ABSTRACT TRUNCATED AT 400 WORDS)

Discrimination, Psychological↗
PubMed1996

Colorectal cancer screening.

The decision whether to launch a screening program in asymptomatic patients of average risk for colorectal cancer and the selection of the appropriate protocol for screening are complex issues. There are still many unanswered questions. Many organizations such as the American Cancer Society, the World Health Organization Collaborating Center for the Prevention of Colorectal Cancer, and the U.S. National Cancer Institute advocate screening with annual Hemoccult tests and screening with flexible sigmoidoscopy every 3 to 5 years in patients more than 50 years of age. The U.S. Preventive Services Task Force, the Canadian Task Force on Periodic Health Examination, and the International Union Against Cancer have not recommended screening asymptomatic average-risk patients for colorectal cancer. One study showed a small but significant benefit (3 per 1000) of the rehydrated annual Hemoccult test in reducing mortality from colorectal cancer. To embark on a mass screening strategy as recommended, however, would require significant costs, increases in physician training, improved access to the requisite technology, and enhancements in patient and physician compliance. Furthermore, the high false-positive rates of the rehydrated Hemoccult tests would lead to many unnecessary tests, causing greater expense as well as patient discomfort and anxiety. It is, therefore, premature to recommend mass screening for colorectal cancer in asymptomatic individuals at this time. Further research is needed to identify risk factors (such as genetic markers) better and to develop and evaluate screening strategies targeted at those with high risk for colorectal cancer. In the meantime, efforts at primary prevention for the general population should be increased (through nutrition and exercise). Patients over the age of 50 who desire screening should be given information of the benefits and risks of screening and together with their physicians decide on a screening strategy that suits their needs and values.

Colonoscopy↗
PubMed1976

Efforts in cancer diagnosis: national task forces--large bowel cancer.

Current information from the National Large Bowel Cancer Project and other sources is given concerning new leads and avenues of research that may be used in early diagnosis or possibly in monitoring therapy. The search for biological markers has developed in two general directions: (1) to identify by genetic studies patients with a high probability of developing cancer who will provide insight into biochemical changes as premalignant lesions develop into frankly developed cancer, and (2) to fine differences between tissue and body fluid constituents in normal subjects and patients with cancer. Screening for colon cancer is discussed with a selective diagnostic approach and with emphasis on this approach in early diagnosis of asymptomatic high risk patients.

Adult↗
PubMed1997

Reduced Mg2+ inhibition of Ca2+ release in muscle fibers of pigs susceptible to malignant hyperthermia.

The inhibitory effect of myoplasmic Mg2+ on Ca2+ release from the sarcoplasmic reticulum (SR) was examined in mechanically skinned skeletal muscle fibers from pigs of different ryanodine-receptor (RyR) genotypes. In fibers from pigs homozygous for the normal RyR allele, the free Mg2+ concentration ([Mg2+]) had to be lowered from the normal resting level of 1 to approximately 0.1 mM to induce Ca2+ release and a force response. Fibers from pigs heterozygous or homozygous for the RyR allele associated with malignant hyperthermia (MH) needed only a smaller reduction in free [Mg2+] to induce Ca2+ release (reduction to 0.1-0.2 and > or = 0.2 mM, respectively). Dantrolene (20 microM) counteracted the effect of this reduced Mg2+ inhibition in MH muscle. The response of muscle fiber bundles to the caffeine-halothane contracture test in the three genotypes correlated well with the responsiveness of single fibers to reduced [Mg2+]. Thus the abnormal responsiveness of MH muscle to various stimuli may largely result from the reduced ability of myoplasmic Mg2+ to inhibit Ca2+ release from the SR.

Animals↗