Attitudes toward genetic counseling and prenatal diagnosis among a group of individuals with physical disabilities

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.     

Stewardship Models of Pastoral Care,Counselling and Supervision: The Commonians Meet Ricoeur at Worship

The common factors debate in psychology and, more recently, marriage and family therapy is slow to erupt in pastoral care and counselling. This article introduces the common factors debate into pastoral science by proposing the Stewardship Models of Pastoral Ministry and Supervision. The model integrates common factors research and pastoral practice using Ricoeur’s “economy of the gift” ethic. The model’s focus is pastoral care, counselling and supervision in congregations, a unique community context in search of an adequate pastoral praxis.     

Individual Accountability in Cooperative Learning Groups at the College Level: Differential Effects on High,Average, and Low Exam Performers

Over a three-semester period in a large undergraduate human development course, students were assigned to 5–7 member groups to work together in preparing for an exam in one of the five content units in the course. Their exam performance was tracked over three units: a baseline unit in which students worked only individually, a unit in which they worked in cooperative teams, and a follow-up unit in which the formal cooperative team structure was removed. Three different bonus-credit contingencies were used in the cooperative learning unit across the three semesters: (a) awarding full bonus credit to each individual in the group if the group as a whole improved its exam performance by the specified amount, (b) awarding partial bonus credit to each individual in the group if the group as a whole improved it exam performance by the specified amount and full bonus credit to each individual who also improved by the specified amount, and (c) awarding full bonus credit to an individual in the group if both the group and the individual improved exam performance by the specified amount. The three contingencies produced somewhat similar patterns of change for low and average performers, but the high performers fared better under the last two contingencies than under the group-only contingency.     

Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

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.     

Assessment of the Use and Feasibility of Video to Supplement the Genetic Counseling Process: A Cancer Genetic Counseling Perspective

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.     

Doctor's Expertise and Managing Discrepant Information from Other Sources in Genetic Counseling: A Conversation Analytic Perspective

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.     

Predictive Genetic Testing for Hereditary Breast and Ovarian Cancer: Psychological Distress and Illness Representations 1 Year Following Disclosure

This prospective study evaluates emotional functioning and illness representations in 68 unaffected women (34 carriers/34 noncarriers) 1 year after predictive testing for BRCA1/2 mutations when offered within a multidisciplinary approach. Carriers had higher subjective risk perception of breast cancer than noncarriers. Carriers who did not have prophylactic oophorectomy had the highest risk perception of ovarian cancer. No differences were found between carriers and noncarriers regarding perceived seriousness and perceived control of breast and ovarian cancer. Mean levels of distress were within normal ranges. Only few women showed an overall pattern of clinically elevated distress. Cancer-specific distress and state-anxiety significantly decreased in noncarriers from pre- to posttest while general distress remained about the same. There were no significant changes in distress in the group of carriers except for ovarian cancer distress which significantly decreased from pre- to posttest. Our study did not reveal adverse effects of predictive testing when offered in the context of a multidisciplinary approach.     

Differences in Individual Approaches: Communication in the Familial Breast Cancer Consultation and the Effect on Patient Outcomes

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.     

Evaluating the Impact of Genetic Counseling and Testing with Signal Detection Methods

One measure of the impact of genetic counseling and testing (GCT) is the extent to which it fosters behavioral change that is consistent with mutation status. We describe and illustrate how two different signal detection methods, receiver operating characteristic (ROC) analysis and recursive partitioning, can be used in this context to evaluate the impact of GCT. We analyzed real screening behavior data obtained in the 12 months following GCT for Hereditary Nonpolyposis Colon Cancer (HNPCC) using these two different signal detection approaches. Each approach demonstrated that GCT had an impact on behavioral outcomes, and was effective in fostering behavioral outcomes appropriate to mutation status. The ROC approach demonstrated that GCT was effective because mutation positive and mutation negative individuals could be distinguished on the basis of the number of recommended screening behaviors. The recursive partitioning approach demonstrated that GCT was effective because there were generally high rates of adherence to screening guidelines among subjects. The recursive partitioning technique also identified four subgroups of subjects, each with distinct characteristics, for which tailored interventions could be developed to increase rates of adherence to screening guidelines. Signal detection methods are easily implemented and are useful techniques for evaluating the impact of GCT.     

Evaluating Genetic Counseling: Client Expectations,Psychological Adjustment and Satisfaction with Service

Periodic evaluations of genetic counseling services are useful for determining the effectiveness of counseling in meetings its psycho-educational aims, as well as identifying where improvements to the service may be made. This study aimed to evaluate the genetic counseling services provided by Genetic Services of Western Australia (GSWA) to determine the impact of counseling on client expectations, satisfaction with the service, and psychological adjustment, defined as wellbeing and perceived personal control (PPC). A total of 122 clients participated in a self-administered survey conducted pre- and post-counseling. Client expectations of the service as a means of providing information were met, and opportunities for counselors to meet client’s expectations of psychological support were identified. Furthermore, counseling was found to maintain and enhance psychological wellbeing of clients. The role of counseling in facilitating the development of PPC was a key contributor to a high sense of satisfaction in clients.