Perception of genetic risk among genetic counselors

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.     

Behavioral genetic methods

Traditional behavioral genetic methods involve the use primarily of family, twin, and adoption correlations to estimate the relative contributions of genetic and environmental influences in the etiology of individual differences. These methods and representative results for personality are described. However, newer methods are emphasized: structural models and model-fitting, multivariate analysis, genetic change and continuity in development, shared and non-shared components of environmental variance, and genetic components of "environmental" variation. Because most applications of these behavioral genetic methods to the study of personality involve self-report omnibus questionnaires, an important direction for future research in this area is to use these methods to explore new issues and new measures that have emerged from personality theory and research during the past decade.     

Models of genetic counseling and their effects on multicultural genetic counseling

This theoretical paper examines challenges to multicultural genetic counseling, counseling between culturally different clients and counselors, in the context of Kessler's typology of models of genetic counseling (Kessler S (1997) J Genet Counsel 6:287–295). It is suggested that challenges such as resistance to multicultural genetic counseling education may be due to conceptions about genetic counseling as a biomedical field that transcends questions of culture as well as lack of multicultural training or prejudice. Directions for future research and recommendations for multicultural genetic counseling education are briefly explored.     

The genetic difference principle

In the newly emerging debates about genetics and justice three distinct principles have begun to emerge concerning what the distributive aim of genetic interventions should be. These principles are: genetic equality, a genetic decent minimum, and the genetic difference principle. In this paper, I examine the rationale of each of these principles and argue that genetic equality and a genetic decent minimum are ill-equipped to tackle what I call the currency problem and the problem of weight. The genetic difference principle is the most promising of the three principles and I develop this principle so that it takes seriously the concerns of just health care and distributive justice in general. Given the strains on public funds for other important social programmes, the costs of pursuing genetic interventions and the nature of genetic interventions, I conclude that a more lax interpretation of the genetic difference principle is appropriate. This interpretation stipulates that genetic inequalities should be arranged so that they are to the greatest reasonable benefit of the least advantaged. Such a proposal is consistent with prioritarianism and provides some practical guidance for non-ideal societies--that is, societies that do not have the endless amount of resources needed to satisfy every requirement of justice.     

Nondirectiveness and genetic counseling

Nondirectiveness is the generally required and professed standard for genetic counseling. However, studies are lacking in the field of human genetics and in other disciplines which address either the theory or practice of this type of therapeutic procedure in the context of genetic counseling. Moreover, there is no indication the further development this concept has undergone in client-centered therapy has been acknowledged in human genetics. This could be due tot he historical development of genetic counseling, its inherent conflicts and often undefined goals, and the latent need of human geneticists to defend themselves against being accused of eugenic tendencies. Nondirectiveness and directiveness, however, can neither adequately describe what takes place in genetic counseling, nor can they — according to their original meaning — be used to define an ethical standard of genetic counseling. Starting with the writings by Carl Rogers (1942), an experiential approach is described, in which counseling is seen as a process of influence, which is wished by all the persons involved, during which activities are oriented toward the experience of the client, and which allows the counselor to communicate openly and directly with the client. The present study illustrates the use of the experiential approach in genetic counseling and shows that it can uphold the principle of ethics, which nondirectiveness demands and, at the same time, prevent the inevitable and unresolvable contradictions. This means that in their training genetic counselors must learn to recognize and constantly reflect on the influence they can and want to exert. In order to be able to use this influence in a responsible manner, genetic counselors must also learn to have a certain degree of flexibility so that they are able to check at any time how their client responds to this influence.     

The pastor as genetic counselor

The pastor as pastoral counselor in the setting of the church can play an important role on a genetic team. This article explores the role the pastor plays in the definitive stage: delivery of information, educating, supporting, and counseling in human genetics. Problems that are encountered by team members, patients, and families, and dominant feelings that seem to exist in couples or individuals who discover that their children have a birth defect or that they themselve are carriers of a faulty gene are revealed and illustrated through clinical examples and interviews. Further suggestions are given on how a constructive team approach can help provide information regarding birth defects and how pastors can help and participate in this process.The Rev.M. Wayne Clark, D. Min., is a United Methodist pastor in Sidney, Iowa, and has completed Care and Counseling's two-year graduate training program for pastoral counselors in St. Louis, Missouri. He has served as a consultant to the Division of Medical Genetics at the University Hospital in Iowa City, Iowa, and has worked with the staff of Regional Genetic Consultation Services of the Iowa State Department of Health. He is a member of A.A.P.C. and a clinical member of AAMFT.     

A genetic perspective on stuttering

If one considers stuttering to be one possible outcome of a developmental and learning process, it is possible to conclude, a priori, that both environmental variation and genetic variation are likely to be involved in determining those who ever stutter and those who never stutter. Proof exists of the importance of nongenetic (environmental) variation in the etiology of stuttering; no conclusive proof exists of the involvement of genetic variation. The available evidence on the familial concentration of stuttering is compatible with hypotheses that incorporate a major genetic component. According to these hypotheses, the familiality is due to genetic transmission, and the interaction of genetic predisposition with environmental factors is affected by the individual's sex. No conclusion is yet possible on the specific type of genetic transmission.     

Fluency disorders in genetic syndromes

The characteristics of various genetic syndromes have included “stuttering” as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list “stuttering” as a characteristic of that syndrome. An extensive review of these syndromes indicated clients diagnosed with these syndromes do show evidence of nonfluency patterns, but not all would be considered stuttering. Many of the syndromes are marked by degrees of mental retardation that probably contribute to a higher than average prevalence of stuttering, as well as a higher than average prevalence of other fluency disorders (when compared to the population at large).

An in-depth analysis of the available data indicates that some of these genetic syndromes show patterns of stuttering that may be indicative of only that syndrome (or similar syndromes) that can be differentially diagnosed from developmental stuttering. Among these patterns are the word-final nonfluencies noted in Prader-Willi syndrome; the presence of stuttering in the absence of secondary behaviors noted in Prader-Willi syndrome and; the presence of palilalia, word-final and word-medial nonfluencies, and word-medial and word-final nonfluencies in Tourette syndrome. Implications for future research are discussed in light of these findings.

Educational objectives: The reader will be able to: (1) describe the various different genetic syndromes that are associated with fluency disorders; (2) describe the types of nonfluencies that are associated with the major types of genetic syndromes that have fluency disorders; (3) describe the behaviors that may assist in differentially diagnosing different types of speech characteristics associated with various genetic syndromes.     

Letter to a genetic counselor

The author describes her personal experience terminating a pregnancy after receiving an abnormal amniocentesis result: While still waiting for the results, she and her husband attempted to deny the importance of the pregnancy, an approach which they subsequently regretted. When they received the abnormal result, they found themselves able to make necessary decisions quickly, despite being in shock. It then took some time before they realized what a major loss they had actually suffered. The painful aftermath included accepting emotional responsibility for their decision to abort, as well as explaining that difficult decision to their older children. Thoughts of a possible subsequent pregnancy could not be faced at once. Over time, the author found the support of friends and colleagues, and even of a support group, to be invaluable. All in all, the entire experience was more painful than she would have predicted, and she hopes that this account will prove helpful both to genetic counselors and to other patients who receive abnormal results from prenatal diagnosis. A list of suggested readings is appended.Rose Green is a pseudonym.     

Cultural competency in genetic counseling

Incorporating a cross-cultural curriculum into genetic counseling training programs demonstrates a professional conviction of genetic counselors that cultural issues are important in genetic counseling. Funded by the Special Projects Fund in 1993 from the National Society of Genetic Counselors and the Kitson Fund from the Department of Social, Organizational, and Counseling Psychology, Teachers College, Columbia University, theHandbook of Cross-Cultural Genetic Counseling was developed to provide genetic counseling programs a curriculum to teach cross-cultural genetic counseling. The theoretical rationale for the development of a cultural curriculum is presented. By expanding cultural knowledge, developing an awareness of oneself and others, and increasing the repertoire of culturally relevant counseling skills within a socio-political context, genetic counselors will be able to better serve all clients seeking genetic counseling.     

Case vignette: genetic secrets

Mrs. Thomas, age 50, became concerned after experiencing intermittent uncontrollable jerky body movements. She contacted her family physician and, following a full diagnostic evaluation, learned that she is experiencing early symptons of Huntington's disease. This illness is a degenerative disease of the central nervous system, which will ultimately lead-to physical incapacity, dementia, and death. The disease is known to be transmitted genetically as an autosomal dominant trait, with the first onset of symptoms usually occurring in middle age. For example, the child of an affected person has a 50% chance of inheriting the gene, and thus the illness, and a 50% chance of passing it on to their children. Mrs. Thomas is unaware of any history of the disease among others in her family; however, her father was an adopted child, who died in an automobile accident at the age of 37 and may well have been a carrier of the gene. It is highly likely that other members of her family, including her siblings and children, may be carriers of the gene and ultimately transmit it to their children before clinical symptoms of the disease develop. Her own son married last year, and her two brothers have children of childbearing age. Genetic screening and counseling are available for those at risk for Huntington's disease; however, Mrs. Thomas does not want to discuss her diagnosis with family members, fearing that they may blame her and that she may lose her job and friends if the information becomes public knowledge. What advice would you give to the health-care providers caring for Mrs. Thomas regarding the assorted rights, duties, and obligations surrounding this situation?