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21.
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors 总被引:3,自引:0,他引:3
Bennett RL Hart KA O'Rourke E Barranger JA Johnson J MacDermot KD Pastores GM Steiner RD Thadhani R 《Journal of genetic counseling》2002,11(2):121-146
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. 相似文献
22.
A mailed survey of female prenatal genetic counselors, obstetric nurses, and high school biology teachers was conducted to determine if these groups hold different attitudes toward genetic risk and to investigate the extent to which any differences result from the effect of different professional experiences. In this study, the participants were 166 genetic counselors, 116 obstetric nurses, and 78 biology teachers (n = 360). Survey participants completed a written questionnaire designed to assess their numeric estimate of the empiric risk for birth defects/genetic problems, their subjective perception of this risk, and their personal use of prenatal diagnosis. Genetic counselors were found to be less likely than the other groups to consider the frequency of birth defects/genetic problems as rare and were 10 times more likely than nurses and 8 times more likely than teachers to have had prenatal diagnosis. Furthermore, more than half of the prenatal diagnosis procedures had by genetic counselors were not medically indicated. These results suggest that genetic counselors have an increased perception of genetic risks relative to nurses or teachers. Possible explanations for this finding are discussed, and the potential role of discordant risk perception in creating biases in the genetic counseling process is explored. 相似文献
23.
Few studies have been published on the attitudes of people with physical disabilities toward genetic counseling and prenatal diagnosis. Articles in the lay press and social science literature on this topic, mainly written by disability rights activists and advocates, imply opposition to prenatal diagnosis and the field of clinical genetics by the physically disabled population. In this study, 15 adults with physical disabilities were interviewed regarding their attitudes toward genetic counseling and prenatal diagnosis. Genetic counseling and prenatal diagnosis were generally viewed favorably by this sample of the disability community. Only a small percentage of the sample perceived genetics to be eugenic. Implications for genetic counseling and future research are discussed. 相似文献
24.
25.
Launis V 《Science and engineering ethics》2000,6(3):299-310
In the bioethical literature, discrimination in insurance on the basis of genetic risk factors detected by genetic testing
has been defended and opposed on various ethical grounds. One important argument in favour of the practice is offered by those
who believe that it is not possible to distinguish between genetic and non-genetic information, at least not for practical
policy purposes such as insurance decision-making. According to the argument from indistinguishability, the use of genetic
test information for insurance purposes should be permitted, because genetic test information is no different from non-genetic
medical information in any relevant respect, therefore it would be inconsistent to prohibit the former whilst permitting the
latter. This paper discusses and defends this argument and suggests a new, more tenable foundation. 相似文献
26.
McConkie-Rosell A Finucane B Cronister A Abrams L Bennett RL Pettersen BJ 《Journal of genetic counseling》2005,14(4):249-270
These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families
with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published
in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a
continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular
genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated
tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning
options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions
of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are
based on clinical experience, review of pertinent English language articles, and reports of expert committees. 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 health care provider, familiar with the facts and circumstances of a specific case,
will always supersede these recommendations. 相似文献
27.
Axilbund JE Hamby LA Thompson DB Olsen SJ Griffin CA 《Journal of genetic counseling》2005,14(3):235-243
Cancer genetic counselors use a variety of teaching modalities for patient education. This survey of cancer genetic counselors assessed their use of educational videos and their recommendations for content of future videos. Thirty percent of respondents use videos for patient education. Cited benefits included reinforcement of information for clients and increased counselor efficiency. Of the 70% who do not use videos, predominant barriers included the perceived lack of an appropriate video, lack of space and/or equipment, and concern that videos are impersonal. Most respondents desired a video that is representative of the genetic counseling session, but emphasized the importance of using broad information. Content considered critical included the pros and cons of genetic testing, associated psychosocial implications, and genetic discrimination. The results of this exploratory study provide data relevant for the development of a cancer genetics video for patient education, and suggestions are made based on aspects of information processing and communication theories. 相似文献
28.
Doctor's Expertise and Managing Discrepant Information from Other Sources in Genetic Counseling: A Conversation Analytic Perspective 总被引:1,自引:0,他引:1
The study examines a recurrent interactional pattern in genetic counseling. It describes clinical geneticists' responses in
situations in which clients have presented information from other sources that is potentially discrepant with information
given by the doctor. The data consists of 12 video-recorded sessions of genetic counseling in Finland, and the method is conversation
analysis. There are two primary ways the doctors respond: either they accept the client's information as such, but show that
it is not discrepant with the doctor's information, or they reject the client's information. In the latter case they mitigate
the ‘wrongness’ of the client's information. The clinical geneticists seem to be working with a dilemma: they need to find
a balance between ensuring correct understanding of the information and showing respect for the expertise of others. A particularly
complex case is also analyzed and reflected on. 相似文献
29.
Bates BR 《Journal of genetic counseling》2005,14(6):423-434
Critics of genetic discourse are concerned that deterministic and discriminatory views of genetics are increasingly becoming
adopted. These views argue that current genetic discourse becomes a source of power whereby powerful institutions harm people
with so-called “bad” genes. This essay argues that current analyses of the power of genetics discourse are grounded in an
improper reading that disempowers patients. Deploying Michel Foucault's concept “care of the self,” this essay claims that
genetics discourse is better understood as a way that patients take on power through rhetoric rather than a force that has
power over patients. Through a close reading of the “My Family Health Portrait” program, this paper argues that patients experience
a process of “subjection” wherein they become agents of and objects of genetics discourse both. This alternative mode of analyzing
the power of genetics discourse has implications for our collective understanding of the operations of the care of the self
and the uses of genetic information that we propose. 相似文献
30.
Differences in Individual Approaches: Communication in the Familial Breast Cancer Consultation and the Effect on Patient Outcomes 总被引:1,自引:0,他引:1
This multicenter study aimed to assess (i) whether individual clinical geneticists and genetic counselors vary in their communication skills and (ii) whether this variation in communication impacts on patient outcomes, such as anxiety, depression, genetics knowledge, and satisfaction. One hundred and fifty women from high-risk breast cancer families attending their first genetic counseling consultation completed pre and post-consultation self-report questionnaires. The consultations were audiotaped and transcribed verbatim. Univariate analyses showed highly significant differences between individual clinical geneticists and genetic counselors in: facilitating understanding (p 0.001); facilitating active involvement (p 0.001); facilitating partnership building (p = 0.003); addressing emotional concerns (p 0.001); and discussing prophylactic mastectomy (p = 0.017). Multivariate linear regressions showed that this variation in communication resulted in a greater change in patients depression 4 weeks after the counseling session (p = 0.017). These findings suggest clinical geneticists and genetic counselors have achieved some standardization in communicating information, but showed diversity in their facilitation skills. Communication skills may be a useful area to explore further in this field. 相似文献