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PubMed2006

Screening for hemochromatosis: recommendation statement.

This statement summarizes the U.S. Preventive Services Task Force (USPSTF) recommendation on screening for hemochromatosis and the supporting scientific evidence. The complete information on which this statement is based, including evidence tables and references, is available in the accompanying article in this issue and on the USPSTF Web site (http://www.preventiveservices.ahrq.gov). The USPSTF is redesigning its recommendation statement in response to feedback from primary care clinicians. The USPSTF plans to release, later in 2006, a new, updated recommendation statement that is easier to read and incorporates advances in USPSTF methods. The recommendation statement in this paper is an interim version that combines existing language and elements with a new format. Although the definitions of grades remain the same, other elements have been revised.

Cost of Illness↗
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↗
PubMed2002

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.

Adult↗
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↗
PubMed2006

A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.

The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.

Genetic Counseling↗
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↗
PubMed2005

Taskforce 9: the application of preimplantation genetic diagnosis for human leukocyte antigen typing of embryos.

This 9th statement of the ESHRE Taskforce on Ethics and Law considers ethical questions and specific dilemmas concerning preimplantation genetic diagnosis for human leukocyte antigen typing of embryos. This application is particularly complex because the interests of the sick child needing a transplantation should be balanced against the interests of the future donor child who may result from the technique. It is concluded that, if parents intend to love the child, the creation and use as a donor is not inherently disrespectful.

Cloning, Organism↗
PubMed2003

Involvement of 5-HT1A receptors in animal tests of anxiety and depression: evidence from genetic models.

Clinical studies have suggested the involvement of 5-HT1A receptors in anxiety and depressive disorders because partial 5-HT1A receptor agonists such as buspirone are therapeutic. The present review considers evidence from genetic animal models that support a role for 5-HT1A receptors in anxiety-like and depressed-like behavior in animals. Selective breeding for differential hypothermic responses to a selective 5-HT1A receptor agonist led to the development of the high DPAT sensitive (HDS) and low DPAT sensitive (LDS) lines of rats. The HDS rats differ from the LDS rats on several behavioral measures reflective of anxiety or depression, including reduced social interaction, reduced responding in a conflict task and exaggerated immobility in the forced swim test. However, they do not differ from the LDS rats in the elevated plus maze task, which is a commonly used test of anxiety. Nor do the HDS rats exhibit a typical anxiogenic response to the hippocampal administration of the 5-HT1A agonist. Although the HDS rats do exhibit elevations in 5-HT1A receptors in regions of the limbic cortex, it is not clear whether these increases account for the behavioral differences. Paradoxically, 5-HT1A receptor knockout mice also exhibit anxiety-like behavior in the plus maze, open field and conflict tests compared to wild type mice. However, the knockouts exhibited less immobility in the forced swim test than wild type control mice. Recent studies using selective regional reinstatement of the receptor have implicated the postsynaptic 5-HT1A receptors in these changes in anxiety-like behavior. Thus, preliminary evidence from two different types of genetic animal models suggests that anxiety-like behavior can arise if the 5-HT1A receptor function is eliminated or overexpressed. Further study with additional tests of anxiety are needed to confirm this intriguing relationship.

Animals↗
PubMed2005

Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors.

The objective of this document is to provide recommendations for genetic evaluation and counseling of couples with recurrent miscarriage (RM). The recommendations are the opinions of the multidisciplinary Inherited Pregnancy Loss Working Group (IPLWG), with expertise in genetic counseling, medical genetics, maternal fetal medicine, internal medicine, infectious disease, cytogenetics, and coagulation disorders. The IPLWG defines RM as three or more clinically recognized consecutive or non-consecutive pregnancy losses occurring prior to fetal viability (<24 weeks gestation). These recommendations are provided to assist genetic counselors and other health care providers in clinical decision-making, as well as to promote consistency of patient care, guide the allocation of medical resources, and increase awareness of the psychosocial and cultural issues experienced by couples with RM. The IPLWG was convened with support from the March of Dimes Western Washington State Chapter and the University of Washington Division of Medical Genetics. The recommendations are U.S. Preventive Task Force Class III, and are based on clinical experiences, review of pertinent English-language published articles, and reports of expert committees. This document reviews the suspected causes of RM, provides indications for genetic evaluation and testing, addresses psychosocial and cultural considerations, and provides professional and patient resources. These recommendations should not be construed as dictating an exclusive course of medical management, nor does the use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the circumstances of a specific case, should always supersede these recommendations.

Abortion, Habitual↗
PubMed2004

[Approach to depressogenic genes from genetic analyses of animal models].

Human depression or mood disorder is defined as a complex disease, making positional cloning of susceptibility genes a formidable task. We have undertaken genetic analyses of three different animal models for depression, comparing our results with advanced database resources. We first performed quantitative trait loci (QTL) analysis on two mouse models of "despair", namely, the forced swim test (FST) and tail suspension test (TST), and detected multiple chromosomal loci that control immobility time in these tests. Since one QTL detected on mouse chromosome 11 harbors the GABA A receptor subunit genes, we tested these genes for association in human mood disorder patients. We obtained significant associations of the alpha 1 and alpha 6 subunit genes with the disease, particularly in females. This result was striking, because we had previously detected an epistatic interaction between mouse chromosomes 11 and X that regulates immobility time in these animals. Next, we performed genome-wide expression analyses using a rat model of depression, learned helplessness (LH). We found that in the frontal cortex of LH rats, a disease implicated region, the LIM kinase 1 gene (Limk 1) showed greatest alteration, in this case down-regulation. By combining data from the QTL analysis of FST/TST and DNA microarray analysis of mouse frontal cortex, we identified adenylyl cyclase-associated CAP protein 1 (Cap 1) as another candidate gene for depression susceptibility. Both Limk 1 and Cap 1 are key players in the modulation of actin G-F conversion. In summary, our current study using animal models suggests disturbances of GABAergic neurotransmission and actin turnover as potential pathophysiologies for mood disorder.

Actins↗
PubMedDate not supplied

Efficacy of risk-reducing salpingo-oophorectomy in women with BRCA-1 and BRCA-2 mutations.

Recognizing the emerging role of genetics in clinical care, in 1996 the American Society of Clinical Oncology established a Task Force on Cancer Genetics Education to develop educational opportunities and resources for its members. These efforts, and recent advances in the understanding of genetic predisposition to breast and ovarian cancers, have resulted in growing numbers of women participating in genetic testing protocols. The first prospective clinical trial involving women with known BRCA-1 and BRCA-2 mutations was recently published. In a prospective study involving 170 BRCA-1 and BRCA-2 mutation carriers and a mean follow-up of 2 years, the estimated 5-year cancer-free estimates were 96% for the 98 women choosing prophylactic bilateral salpingo-oophorectomy and 69% for the 72 women choosing intensive surveillance (p=0.006). Three cases of stage I ovarian cancers were diagnosed at the time of prophylactic surgery. These results are consistent with published literature and data from the Prevention and Observation of Surgical Endpoints (PROSE) study group, which reported a 96% reduction in ovarian cancer risk and a 53% reduction in breast cancer risk among BRCA-1 and BRCA-2 mutation carriers who had prophylactic bilateral oophorectomy compared to matched controls. Thus prophylactic bilateral salpingo-oophorectomy can be regarded as an effective risk-reducing procedure that permits early diagnosis of ovarian cancer at the time of surgery and significantly reduces the risk of breast and ovarian cancer in women with germ-line mutations in the BRCA-1 and BRCA-2 genes.

Breast Neoplasms↗
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↗
PubMed2001

Screening strategies for colorectal cancer: a systematic review of the evidence.

BACKGROUND: Colorectal cancer is the third most common cancer in Canada. It is well recognized that there are improved survival rates if the disease is treated in its early stages, and indeed this may be a preventable disease. This paper systematically reviews the effectiveness of specific screening techniques for colorectal cancer in asymptomatic individuals at normal or above average risk. METHODS: MEDLINE was searched for articles published between January 1966 and January 2001 by using the MESH terms 'screening' and 'colorectal neoplasia'. The reference sections of review articles published before January 2001 were checked, and content experts were surveyed. The evidence was evaluated using the standardized methodology of the Canadian Task Force on Preventive Health Care. RESULTS AND DISCUSSION: For individuals at normal risk, there is evidence to support the use of annual or biennial fecal occult blood testing and flexible sigmoidoscopy for asymptomatic individuals over age 50 years. The evidence regarding whether only one or both of fecal occult blood testing and sigmoidoscopy should be performed is unclear, as is the evidence regarding the use of colonoscopy as an initial screen. For individuals at above average risk, the evidence supports either genetic testing or flexible sigmoidoscopy of individuals at risk in familial adenomatous polyposis kindreds, and screening with colonoscopy of patients in kindreds with hereditary nonpolyposis colon cancer. The evidence regarding colonoscopy for individuals who have a family history of colorectal polyps or cancer but do not fit the criteria for hereditary nonpolyposis colon cancer is unclear. Development of better risk stratification for screening is a high research priority, and further research, including randomized, controlled trials, into the effectiveness and feasibility of other screening modalities is necessary.

Colonoscopy↗