ISSN:0893-0341    

出版商:OVID    

年代:1994

数据来源: OVID

ISSN:0893-0341    

出版商:OVID    

年代:1994

数据来源: OVID

ISSN:0893-0341    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

SummaryThis article discusses an ethics research project in predictive testing for Huntington's disease (HD) and the relevance of the findings for genetic testing for Alzheimer's disease (AD). Participants were videotaped during their pre-and posttest counseling sessions, as well as when the results were given. Half of these were then interviewed in their homes. Changes that accompanied the receipt of decreased risk suggested that counseling as well as the genetic information led the participants through a rite of passage. The most significant changes seemed to be in relation to other family members. Application to persons at risk for AD needs to be qualified, since persons at risk for AD will not usually have as well developed a sense of “family risk,” and are less likely to receive as definite a reduced risk. In diagnostic testing for AD, a substitute decision-maker will often be involved. An unavoidable result is that some of the related substitute decision-makers will receive results which may have, or be mistaken to have, predictive value. Substitute decision-makers must therefore be included in genetic counseling, and the psychosocial effects of their participation must be evaluated.

ISSN:0893-0341    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

SummaryIn January 1992, the IMAGE Project extended the establishment of its registry of familial Alzheimer cases to all areas of the province of Quebec, for collection of epidemiological and clinical data, as well as biological samples. The aim is to study genetic transmission patterns of Alzheimer's disease (AD) and to provide a sampling framework for further etiologic and risk factor studies. The IMAGE registry already includes data of a population-based study in the Saguenay-Lac-St-Jean area; the project to collect data on familial AD (FAD) cases across the province of Quebec is known as the ALGENE Initiative. The registry is thus a collection of “AD families” for both familial and sporadic cases. The establishment of the registry involves several steps in the field work: recruitment and selection of families; collection of information on family medical history; selection of informative families and genetic testing for AD/FAD by linkage analysis. As AD is not homogeneous in its etiology and since we do not know if, in the event that genetics is involved in AD whether or not penetrance of the gene(s) is high, we must be aware of the “genetic horizons” of AD in collecting and conserving data on families of cases, and in the genetic testing for AD/FAD by linkage analysis. Families who choose genetic testing must be aware of the implications of our undertaking, assured of the confidentiality of the test and, at the same time, they must understand its limitations. The experimental nature of our research project raises ethical dilemmas. This article examines these initial considerations of the field work involved in developing a registry pertaining to genetic testing for AD/FAD by linkage analysis and offers some preliminary observations on the experience of the first year of this project.

ISSN:0893-0341    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

SummaryThis article reviews aspects of predictive genetic testing to which the general law of doctor-patient relations applies and identifies peculiarities of such testing that raise more specialized legal issues. Where testing programs are experimental in character, investigators bear legal responsibilities to inform their subjects adequately and separate duties to submit their proposals to ethical review. Access to routine care and counseling and to specialized testing programs are addressed in the contexts of antidiscrimination laws and patient protection. The law on patients' adequately informed and free decision-making regarding testing is reviewed, with particular attention to reproductive counseling and planning for future inability to make or express decisions about care. Modern perceptions of the legal nature of medical confidentiality are applied to results of predictive genetic testing, and distinctions are illustrated between justified and excusable breaches of confidentiality, particularly with regard to familial disorders. Attention is given to patients' directions that their medical information be made available to third parties and to themselves. Finally, legal issues are considered regarding legal control of tissue samples that patients give for genetic diagnosis.

ISSN:0893-0341    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

SummaryThis article examines the feasibility of using molecular genetic information for diagnostic and predictive testing in Alzheimer's disease (AD). The scope is limited largely to early onset familial cases, but a brief update on genetic research in late onset disease is included. The usefulness and accuracy of such testing is determined by the results and interpretation of current research data which are presented herein. The ethical and legal issues implicated in such procedures are not covered but are examined elsewhere in this issue. During the course of the genetic analysis of AD, it has become clear that it is an etiologically heterogeneous disorder. In understanding the genetic predisposition to AD there should be continual attention to this message. Age of onset and familiality have emerged as the most useful clinical features demarcating subgroups with common origins. At least two genes predispose (independently) to early onset familial AD: the 3-amyloid precursor protein gene (βAPP) and an unidentified gene on chromosome 14. Germ line mutations in these genes act dominantly. The accurate use of genetic data in AD, for diagnostic, screening and predictive purposes relies on the most up-to-date knowledge of the transmission of the disorder in relation to mutations in these genes. The interpretation of genetic data is examined for each of the known early onset genes. In addition, we review the data pertaining to late onset disease and risk conferred by theAPOElocus to both familial and nonfamilial cases. The use of these data in genetic risk analysis must be reserved until a full explanation of the association and its meaning is forthcoming. Isolated cases of AD occur at all ages of onset, but no AD mutations in the βAPP gene have yet been identified in isolated cases.

ISSN:0893-0341    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

SummaryThe identification of mutations in the amyloid precursor protein (APP) gene associated with the presence of early-onset familial Alzheimer disease (AD) raises the possibility of their practical clinical application, at least in some circumstances, in the diagnostic assessment for AD. As a stimulus for discussion, a hypothetical, illustrative case vignette is presented. A 48-year-old man, concerned about recent memory loss and with a family history of early-onset AD, requested testing for the APP717 Valle mutation, previously identified in his relatives affected with AD. Whether the testing should be undertaken is considered in the context of the current interpretation of potential test results as well as the competency of the individual who requested the test to provide informed consent. Informed consent includes an understanding of the foreseeable risks and benefits associated with disclosure of test results. Although molecular genetic testing in particular individuals, such as the man described herein, could be appropriate, it should not be interpreted to apply in general at this stage to individuals suspected of having AD. In view of a number of caveats, including the genetic heterogeneity of AD, which significantly limits the sensitivity and specificity of the currently available genetic tests, further research and discussion is strongly recommended before widespread introduction of molecular genetic testing for individuals with suspected AD.

ISSN:0893-0341    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

SummaryForty-one participants representing diverse professional backgrounds attended a workshop on genetic predictive testing for familial Alzheimer's disease (FAD) on January 23, 1993 at Surrey Place Centre in Toronto, Canada. Rapidly emerging molecular genetic findings in AD indicate that predictive testing is now technologically feasible for selected individuals, although defining eligibility criteria remains problematic. Legal, ethical, biomedical, and psychosocial issues related to establishing predictive testing programs for AD were discussed at the workshop. This article reflects these discussions, provides the current biomedical background for them and examines the Huntington's disease (HD) predictive testing experience. Observations concerning molecular genetic predictive testing for AD in light of its genetic heterogeneity and clinical characteristics, such as usual later age of onset than HD, are presented. It is proposed that predictive testing for AD can now be cautiously offered in a research setting primarily according to the recommendations contained within the Ethical Issues Policy Statement on Huntington's Disease Molecular Genetics Predictive Test. However, in their application to AD, some points in the statement are considered to require emphasis, modification, or currently to be of uncertain applicability. This represents an initial step in an on-going process of debate concerning AD that will be required as new advances occur in genetic and clinical research and in bioethics.

ISSN:0893-0341    

出版商:OVID    

年代:1994

数据来源: OVID