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21.
The crane's foot: The rise of the pedigree in human genetics 总被引:1,自引:1,他引:0
Robert G. Resta 《Journal of genetic counseling》1993,2(4):235-260
The standard pedigree used by geneticists is intimately connected to the history of genetics. Pedigrees drawn today are based on standards established in the early decades of the twentieth century. Those standards were established by geneticists who pursued an active interest in eugenics. The slightly different standards followed in America vs. England to some extent followed the stronger support of Mendelism by the Americans, as well as the individual preferences of the leading human geneticists in those countries. 相似文献
22.
Predictive testing for Huntington disease is presently offered in a select few medical genetics centers in the United States. This is in part due to the labor intensive counseling and psychological testing suggested by the research protocols. We discuss some specific suggestions for establishing programs for Huntington disease predictive testing within pre-existing medical genetics clinics to encourage more centers to offer presymptomatic testing. This will allow more at risk individuals the opportunity to consider predictive testing and cut down the expenses of traveling to the few predictive testing centers that currently exist. The counseling principals will remain similar to those discussed here, even following the identification of the Huntington disease mutation. 相似文献
23.
Social networks with two sets of actors 总被引:1,自引:0,他引:1
Traditional network research analyzes relational ties within a single group of actors: the models presented in this paper involve relational ties exist beteen two distinct sets of actors. Statistical models for traditional networks in which relations are measured within a group simplify when modeling unidirectional relations measured between groups. The traditional paradigm results in a one-mode socionatrix; the network paradigm considered in this paper results in a two-mode socionatrix; A statistical model is presented, illustrated on a sample data set, and compared to its traditional counterpart. Extensions are discussed, including those that model multivariate relations simultaneously, and those that allow for the inclustion of attributes of the individuals in the group.We thank the Editor and two anonymous reviewers for their helpful comments. We are also grateful to George Barnett for allowing us to analyze his data. 相似文献
24.
A multidisciplinary group of genetic and other professionals discuss a complex case of familial conflict over access to genetic information. One twin wishes to know the results of her deceased mother's tests for BRCA1 mutations; a second twin objects to researchers making this information available. As the case discussion unfolds, the apparent facts of this case are called into question and the lines of ethical certainty become less clear. 相似文献
25.
The cloning of BRCA1, a susceptibility gene for inherited breast cancer, has made genetic screening possible for individuals and families whose medical histories are suggestive of an inherited predisposition to breast cancer. To date, few systematic attempts have been made to determine the level of knowledge about breast cancer genetics among women who are likely to seek BRCA1 screening when it becomes widely available. The present study attempted to assess the general knowledge about BRCA1 mutations in two groups: (1) first-degree relatives (FDRs) of breast cancer patients; and (2) women with a previous diagnosis of breast cancer. A self-administered, thirty-item questionnaire was developed through a pilot study. Ten of the items were objective, factual questions about breast cancer genetics. Responses to these questions were used to generate an overall knowledge score for each respondent. The study population was moderately knowledgeable about breast cancer genetics, with an average score of 5.35 out of 10. Counselors should not underestimate the importance of evaluating each counselee's existing knowledge about breast cancer, which can affect the provision and reception of genetic information. In particular, specific areas of knowledge that may be confusing or misunderstood were identified and these topics are discussed in detail. 相似文献
26.
Georgios D. Sideridis 《Journal of Behavioral Education》1997,7(2):191-203
Data-smoothing can be particularly useful in predicting human behavior, detecting behavioral patterns, and monitoring treatment effectiveness in highly variable single-subject behavioral experiments that cannot be determined by only visual inspection of their graphs. Using an example from the applied behavior analytic literature, the use of moving-average and exponential data-smoothing aided the detection of the unique behavioral patterns of a child with autism across different treatments. Furthermore, the utility of the data-smoothing procedures to monitor and control the effectiveness of an intervention is discussed. The ease of their calculations suggest use of data-smoothing by behavior analysts whenever the effects of particular interventions are questionable. 相似文献
27.
Hiroshi Hojo 《The Japanese psychological research》1997,39(1):33-42
A marginalization model for the multidimensional unfolding analysis of ranking data is presented. A subject samples one of a number of random points that are multivariate normally distributed. The subject perceives the distances from the point to all the stimulus points fixed in the same multidimensional space. The distances are error perturbed in this perception process. He/she produces a ranking dependent on these error-perturbed distances. The marginal probability of a ranking is obtained according to this ranking model and by integrating out the subject (ideal point) parameters, assuming the above distribution. One advantage of the model is that the individual differences are captured using the posterior probabilities of subject points. Three sets of ranking data are analyzed by the model. 相似文献
28.
Genetic counseling for women of advanced maternal age who are considering prenatal testing continues to be based on a principle of nondirectiveness. We interviewed 11 genetic counseling students and four counselors about how they experience and manage, in practice, the tensions between the ideology of nondirectiveness and the acknowledged reality that one can never be truly nondirective. We found that our respondents creatively resolve this tension—simultaneously resisting and adhering to the values of nondirectiveness and information-giving—in individual and situation-specific ways. This resolution is facilitated by the extent to which information given to counselees is fluid, mobile and context-dependent, but these very features of information also have critical implications for both the norms and the practice of genetic counseling. 相似文献
29.
Garte SJ 《Science and engineering ethics》1995,1(1):59-70
Historically, scientists in training have learned the rules of ethical conduct by the example of their advisors and other
senior scientists and by practice. This paper is intended to serve as a guide for the beginning scientist to some fundamental
principles of scientific research ethics. The paper focuses less on issues of outright dishonesty or fraud, and more on the
positive aspects of ethical scientific behavior; in other words, what a scientist should do to maintain a high level of ethical
conduct in research.
There are a number of fairly specific rules, guidelines, or commonly accepted operating principles that have evolved for the
ethical conduct of science. In order to discuss this code of ethics, this paper is divided into sections dealing with specific
areas of scientific ethics. These areas are: data collection and storage, ownership of data, confidentiality, communication,
authorship, collaboration, the peer review system, and rules of dealing with ethical complaints. Illustrative case histories
are presented to provide examples of the type of ethical dispute or problem being discussed. If scientific trainees learn
the accepted rules of behavior that govern the conduct of science, ethical problems that arise out of ignorance, misunderstanding,
or poor communication can be avoided. 相似文献
30.
Eugene G. d'Aquili 《Zygon》1994,29(3):371-381