Knowledge of Breast Cancer Genetics Among Breast Cancer Patients and First-Degree Relatives of Affected Individuals

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.     

CONTRIBUTIONS OF TIPLER'S OMEGA POINT THEORY

Abstract. An attempt to discover what can be learned from the recent work of Frank Tipler on the Omega Point theory requires an analysis of his framework of understanding from scientific, philosophical, and theological perspectives. A critique of his crucial ideas, and of the salient points raised by some of his critics, can then be undertaken within the compass of his strengths. A critique of the critiques of Tipler's work allows one to evaluate the extent and limitations of his contributions.     

Resistance and adherence to the norms of genetic counseling

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.     

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.     

Practice-based competencies for accreditation of and training in graduate programs in genetic counseling

In January 1996, the American Board of Genetic Counseling (ABGC) adopted 27 practice-based competencies as a standard for assessing the training of graduate students in genetic counseling. These competencies were identified and refined through a collective, narrative process that took place from January through November 1994, and included directors of graduate programs in genetic counseling, ABGC board members and expert consultants. These competencies now form the basis of the document Requirements for Graduate Programs in Genetic Counseling Seeking Accreditation by the American Board of Genetic Counseling (American Board of Genetic Counseling, 1996). The competencies are organized into four domains and are presented and discussed in this article.The Consortium includes Directors of established graduate programs in genetic counseling and members of the ABGC Board of Directors who participated in the Consensus Development Conference held in January, 1994: Diane Baker (University of Michigan/ABGC); Bonnie Baty (ABGC); Joan Burns (University of Wisconsin); Debra Collins (ABGC); Virginia Corson (ABGC); Beth Fine (Northwestern University/ABGC); Elizabeth Gettig (University of Pittsburgh); Verle Headings (Howard University); Jacqueline Hecht (University of Texas); Carl Huether (University of Cincinnati); Bonnie LeRoy (University of Minnesota); Joan Marks (Sarah Lawrence College); Anne Matthews (University of Colorado); Roberta Palmour (McGill University); Lorna Phelps (Medical College of Virginia); Kimberly Quaid (Indiana University); Joan Scott (ABGC); Ann Smith (ABGC); Helen Travers (ABGC); Judith Tsipis (Brandeis University); Ann Walker (University of California-Irvine/ABGC); Jon Weil (University of California-Berkeley); S. Robert Young (University of South Carolina); Randi Zinberg (Mount Sinai School of Medicine, New York).     

Counseling and screening for cystic fibrosis in patients with congenital bilateral absence of the vas deferens: Patient perceptions

Congenital bilateral absence of the vas deferens (CBAVD) occurs in approximately 1.3% of infertile males and is thought to be, in most cases, a primarily genital form of cystic fibrosis (CF). Fourteen males with CBAVD considering microsurgical sperm aspiration from the epididymis (MESA) and in vitro fertilization were seen for genetic counseling and screening for CF. To retrospectively evaluate these patients' perceptions of the counseling and screening information, we conducted structured telephone interviews to assess their recall of information about CF and its impact on their health concerns and reproductive plans. We found that, as the health implications of CF are abstract and not as important to patients as the diagnosis of CBAVD itself, patients tend to view their CF status primarily in terms of their reproductive potential. Retrospective analysis afforded us an opportunity to identify the psychosocial issues of most concern to this unique patient population.     

Genetic counseling for pregnant adolescents

The genetic counseling literature has a paucity of information on how to provide genetic counseling services to adolescents, especially those who are pregnant. The adolescent population should be viewed as a separate culture, complete with their own beliefs and viewpoints, which are dependent upon the developmental growth tasks of puberty. The completion of these tasks is complicated by pregnancy, which has its own set of developmental goals. The adolescent struggle with developmental goals interferes with the ability to identify consequences, predict future outcomes, and communicate self-revealing statements or decisions effectively. Instead, the adolescent has an egocentric frame of reference and seeks peer approval. The genetic counseling dilemmas presented by pregnant adolescents are illustrated through two case reports. A model based on our own experience and a literature review for successful counseling of adolescents is presented, and utilizes the foundation of trust, patience, and nonjudgmental behavior. Techniques that address the adolescent's concern for autonomy and peer approval are important, and can be achieved through nonthreatening, open-ended questions that promote self-expression. Incorporation of these techniques in genetic counseling and in graduate training will enhance genetic counseling services to the adolescent population.     

A case-based approach to the development of practice-based competencies for accreditation of and training in graduate programs in genetic counseling

The American Board of Genetic Counseling (ABGC) sponsored a consensus development conference with participation from directors of graduate programs in genetic counseling, board members, and expert consultants. Using a collective, narrative, and case-based approach, 27 competencies were identified as embedded in the practice of genetic counseling. These competencies were organized into four domains of skills: Communication; Critical Thinking; Interpersonal, Counseling, and Psychosocial Assessment; and Professional Ethics and Values. The adoption of a competency framework for accreditation has a variety of implications for curriculum design and implementation. We report here the process by which a set of practice-based genetic counseling competencies have been derived; and in an accompanying article, the competencies themselves are provided. We also discuss the application of the competencies to graduate program accreditation as well as some of the implications competency-based standards may have for education and the genetic counseling profession. These guidelines may also serve as a basis for the continuing education of practicing genetic counselors and a performance evaluation tool in the workplace.The Consortium includes Directors of established graduate programs in genetic counseling and members of the ABGC Board of Directors who participated in the Consensus Development Conference held in January 1994: Diane Baker (University of Michigan/ABGC); Bonnie Baty (ABGC); Joan Burns (University of Wisconsin); Debra Collins (ABGC); Virginia Corson (ABGC); Beth Fine (Northwestern University/ABGC); Elizabeth Gettig (University of Pittsburgh); Verle Headings (Howard University); Jacqueline Hecht (University of Texas); Carl Huether (University of Cincinnati); Bonnie LeRoy (University of Minnesota); Joan Marks (Sarah Lawrence College); Anne Matthews (University of Colorado); Roberta Palmour (McGill University); Lorna Phelps (Medical College of Virginia); Kimberly Quaid (Indiana University); Joan Scott (ABGC); Ann Smith (ABGC); Helen Travers (ABGC); Judith Tsipis (Brandeis University); Ann Walker (University of California-Irvine/ABGC); Jon Weil (University of California-Berkeley); S. Robert Young (University of South Carolina); Randi Zinberg (Mount Sinai School of Medicine, New York).     

Defensive reactions of “wild-type” and “Domesticated” wild rats to approach and contact by a threat stimulus

Selective breeding of wild rats over many generations on the basis of low or high defensive threat and attack to human approach and contact has produced highly polarized “domesticated” and “wild-type” animals. Because the selection procedure selectively involves these two defense patterns, and these clearly differ in the two groups, it is of interest to determine if other, nonselected, defensive behaviors to threat stimuli also change. “Domesticated” and “wild-type” rats of the thirty-fifth generation were run in a fear defense test battery (F/DTB) to systematically evaluate defensive behaviors to a variety of present threat stimuli. “Domesticated” rats showed reduced avoidance and slower flight speed to an approaching experimenter, reduced jump/startle response to handelap and dorsal contact, less vocalization and boxing to vibrissae stimulation or to an anesthetized conspecific, and reduced defensiveness to an attempted pickup by the experimenter. These results indicate that selective bi-directional breeding for defensive threat and attack to human approach and contact produces group differences in a variety of defensive behaviors, and in defensiveness to stimuli other than those on which the selection was based. © 1994 Wiley-Liss, Inc.