Genetic Counseling for Confined Placental Mosaicism: A Case Report

New technologies can lead to unforeseen discoveries which in turn can lead to diagnostic and counseling dilemmas. A case which involved confined placental mosaicism for trisomy 16 is presented to illustrate such a situation. While interpreting data and explaining a newly described phenomenon created uncertainties for the genetic counseling team, the patient and her husband were primarily dealing with grief surrounding the loss of a wanted pregnancy. It is important to recognize that the counseling issues may be different for the professionals and the families. Genetic counselors must be cognizant of their own reactions and those of their clients and be prepared to use all of their counseling skills to address these varying needs.     

Case Report: A Systems Approach to Genetic Counseling for Albinism

A systems approach to family therapy assumes that a person and his/her problems do not operate in a social vacuum but instead are imbedded in a social context. This context includes fairly small social systems such as a nuclear family and larger social systems such as school systems and cultural beliefs. A case of a girl with albinism born to a couple from India will be used to discuss how a systems approach might be useful in a genetic counseling setting.     

Genetic Counseling Supervisor Competencies: Results of a Delphi Study

Clinical supervision is a critical component of genetic counseling student preparation, yet empirically-determined competencies for genetic counseling supervisors are lacking. In this study a modified, two-round Delphi method was used to gain consensus about important genetic counseling supervisor knowledge, characteristics, and skills. Program directors and assistant directors of American Board of Genetic Counseling accredited genetic counseling programs in North America (N?=?33) were invited to participate and to recruit three experienced supervisors. Seventy-four individuals completed Round 1 and, of these, 61 completed Round 2. Approximately two-thirds were clinical supervisors from prenatal, pediatrics, cancer, and adult clinics; one-third were program directors. Participants rated the importance for genetic counseling supervisors of 158 items derived from supervision literature in allied health professions. They rated 142 items (89.9 %) as highly important. Content analysis of these items yielded six supervisor competency domains: Personal traits and characteristics; relationship building and maintenance; student evaluation; student centered supervision; guidance and monitoring of patient care; and ethical and legal aspects of supervision. The results provide a basis for training genetic counseling supervisors and for further research to refine and validate supervisor competencies.     

Patient Satisfaction with Cancer Genetic Counseling: A Psychometric Analysis of the Genetic Counseling Satisfaction Scale

Satisfaction is an important patient reported outcome of genetic counseling, as it is one of the elements used by professional organizations and healthcare accrediting bodies to determine the quality of professional work. However, empirical research on patient satisfaction with genetic counseling has been limited, partly due to the lack of standardized measures available to assess this construct. The purpose of this study was to conduct a psychometric analysis of a new satisfaction measure, the Genetic Counseling Satisfaction Scale (GCSS), within a sample of women participating in a no-cost cancer genetic counseling and testing program. The sample consisted of 61 women undergoing counseling and testing for hereditary breast-ovarian cancer risk (BRCA1/2 testing) who completed the GCSS following pretest counseling. The results suggest that the GCSS was reliable (Cronbach's coefficient alpha = 0.90) and that participants were highly satisfied with the care they received. In addition, there were no differences in satisfaction between cancer genetic counseling and prenatal counseling participants (based on preexisting norms), and satisfaction did not vary by sociodemographic characteristics. Implications and recommendations are discussed.     

Equal Opportunity Programs: A Case for Counseling

The Civil Rights Act of 1964, under Title VI, requires that institutions of higher education submit enrollment figures according to ethnic breakdown for federal monies to be allocated. Such requirements are indicative of efforts to diversify student populations. The Higher Education Act of 1965 also incorporates a number of related programs—Supplemental Opportunity Grants, College Work Study, Talent Search, Upward-Bound—which are designed to provide direct or indirect assistance to disadvantaged students. (Gordon, 1975)     

Integration of Test Results with Clinical Observations A Diagnostic Case Study

In this study, we aimed to investigate the application of an externally rated measure of interpersonal representations (Social Cognition and Object Relations Scale [SCORS]; Westen, 1995) to dream narratives. A total of 80 student participants enrolled at a private university in the New York City metropolitan area completed a Dream Log and affect adjective checklist (Wellman, 2002) based on a recalled dream at both 1 month and 3 months following the September 11, 2001, terrorist attacks. Using the dreams provided in this study we examined the interrater reliability of SCORS ratings, the relationship of SCORS variables to an independently rated measure of dream distortion, and the relationship of SCORS variables to participants' own ratings of dream affect. Results indicated that dreams were reliably rated using the SCORS, 3 cognitive SCORS variables were significantly related to dream distortion, and affective SCORS variables were meaningfully related to participants' own ratings of affect in their dreams. Findings from this study provide support for the application of SCORS ratings to dream narratives. We discuss implications for further research and clinical application.     

Genetic Counseling: A Transnational Perspective

Although the basic goal and components of genetic counseling appears to be the same across the globe, judged by my experiences there are significant differences in the provision of genetic counseling services in Australasia (Australia and New Zealand) and India. There is poor recognition of the professional status of a genetic counselor in India at present. This may be partly because genetic counseling itself is a relatively new discipline within the medical field in India, although some types of genetic services and research have been conducted since 1960s. In this paper, I aim to provide insight from my personal transnational experiences.     

Complexities in Cancer Risk Counseling: Presentation of Three Cases

Complexities abound in the identification and management of families at increased risk for inherited forms of cancer. One of the ways to learn as a profession how best to provide cancer risk counseling (CRC) is to share counseling experiences. Such cases can provide insight into the issues raised by families and ways in which genetic counselors have handled complex situations. Here we describe three CRC cases initially presented at the 1995 American College of Medical Genetics meeting. The first case involves balancing the importance of informing a family of the presence of an inherited cancer syndrome with the family's right not to know. The second case illustrates the difficulties in assisting an individual to make medical management decisions in the face of uncertain risk information. The third case describes the complex interactions with a woman before and after her decision to have prophylactic surgery. (affiliated with Long Beach Memorial Breast Center at the time of counseling)     

Talking about Disability in Prenatal Genetic Counseling: A Report of Two Interactive Workshops

Women are commonly offered testing in pregnancy to determine the health of their baby. An important component of informed decision-making about prenatal testing is provision of relevant, accurate, meaningful information concerning the conditions that are being tested for—many of which, such as Down syndrome, are associated with a varying degree of physical and intellectual disability. A range of health professionals, including genetic counselors, may provide information and support throughout the testing process, but available data suggest that discussion of disability is frequently absent or limited. To investigate genetic counselors’ perceptions of this situation and identify potential barriers to discussion we facilitated interactive workshops at the 2007 National Society of Genetic Counselors Annual Education Conference (NSGC) and the 2008 European Meeting on Psychosocial Aspects of Genetics (EMPAG). Working groups identified relevant psychosocial issues and impediments to discussion (NSGC) or used a two-part scenario to promote discussion (EMPAG) and reported findings in notes and a closing plenary discussion. Inductive content analysis revealed that participants considered informed decision making to be a major reason for presenting information about disabilities in prenatal genetic counseling and endorsed the value of including information about daily life with Down syndrome and other disabilities. However, they identified three broad types of impediments to such discussion: counseling issues concerning the most appropriate manner to discuss disability under the complex circumstances of prenatal genetic counseling, less than optimal training and experience in addressing these issues, and perceived limitations in the participants’ knowledge and understanding of life with disability. Our analysis of the responses from the workshop participants and additional thoughts on these issues have led us to develop recommendations for further research, training and clinical practice.     

Case Report: Object Relations Family Therapy as a Model for Genetic Counseling

Object relations family therapy (ORFT) is a psychoanalytically based approach for the treatment of couples and families which stresses the importance of past relationships. The therapist assumes a parentlike role and provides a holding environment in which clients can explore unconscious motivations. This paper will discuss the applicability of this method to genetic counseling. The case of a couple seen for recurrent trisomies will be presented and used as an example to discuss how ORFT might serve as a framework in a genetic counseling session.     

Genetic Counseling as a Tool for Type 2 Diabetes Prevention: A Genetic Counseling Framework for Common Polygenetic Disorders

Advances in genetic epidemiology have increased understanding of common, polygenic preventable diseases such as type 2 diabetes. As genetic risk testing based on this knowledge moves into clinical practice, we propose that genetic counselors will need to expand their roles and adapt traditional counseling techniques for this new patient set. In this paper, we present a genetic counseling intervention developed for a clinical trial [Genetic Counseling/Lifestyle Change for Diabetes Prevention, ClinicalTrials.gov identifier: NCT01034319] designed to motivate behavioral changes for diabetes prevention. Seventy-two phenotypically high-risk participants received counseling that included their diabetes genetic risk score, general education about diabetes risk factors, and encouragement to participate in a diabetes prevention program. Using two validated genetic counseling scales, participants reported favorable perceived control and satisfaction with the counseling session. Our intervention represents one model for applying traditional genetic counseling principles to risk testing for polygenetic, preventable diseases, such as type 2 diabetes.     

A Case for Standards of Counseling Practice

A mature counseling profession has entered the decade of the 1990s. Several factors including professionalism, accountability, health care consumerism, credentialism, and public demands for quality mental health care indicate a need for more definitive statements on standards of practice in counseling. In response to this need, an 8-point proposal for standards of practice in mental health counseling is offered.     

Genetic Counseling Milestones: A Framework for Student Competency Evaluation

Graduate medical education has recently increased focus on the development of medical specialty competency milestones to provide a targeted tool for medical resident evaluation. Milestones provide developmental assessment of the attainment of competencies over the course of an educational program. An educational framework is described to explore the development of Genetic Counseling Milestones for the evaluation of the development of genetic counseling competencies by genetic counseling students. The development of Genetic Counseling Milestones may provide a valuable tool to assess genetic counseling students across all program activities. Historical educational context, current practices, and potential benefits and challenges in the development of Genetic Counseling Milestones are discussed.     

Consideration of Genetic Counseling as a Career: Implications for Diversifying the Genetic Counseling Field

Under-representation of racial/ethnic minority counselors has been an ongoing issue in the genetic counseling field. A better understanding of genetic counseling awareness and career consideration may help to increase the number of applicants to genetic counseling training programs from racial/ethnic minorities. This study sampled high school and college students (n = 233) to examine their awareness and perceptions of genetic counseling. Ethnicity, gender, parental level of education, and interest in biology were significant predictors of a subjects genetic counseling awareness; previous awareness of genetic counseling, interest in psychology, and level of education were significant predictors of whether a subject would consider genetic counseling as a career. The findings suggest that knowledge of genetic counseling is lower among racial/ethnic minorities, but that racial/ethnic minorities are just as likely to consider genetic counseling as a career. Awareness of genetic counseling prior to university education may increase racial/ethnic minority representation among potential applicants to genetic counseling training programs.     

A Test of Group Counseling

High school students were counseled in groups designed around either a “traditional” or an “accelerated interaction” format The efficiency of each approach in achieving the goals of guidance in education was studied. Group counseling appeared to be a useful counseling tool if organized on a weekly basis.     

Across the Spectrum: Case Studies in Genetic Counseling for Breast and Ovarian Cancer

We present three vignettes based on participants counseled as part of a clinical research program. These include a young unaffected woman at risk for a familial mutation, a newly diagnosed breast cancer patient, and a woman with recurrent ovarian cancer. Through the use of detailed vignettes, multifaceted issues that arise in cancer genetic counseling are highlighted.     

A Case for Uncertainty in Career Counseling

This article suggests that an important aspect of the career decision-making process is the awareness that uncertainty (i.e., “1 don't know”) is normal, natural, and most likely unavoidable. The essential message of this article is that it is as useful, and even vocationally mature, to be both certain and uncertain about making a career decision.     

Genetic Counseling: Implications for Community Counselors

A special issue of the Journal of Health Psychology (Vol. 7, No. 2, 2002) was reviewed. The articles covered a variety of qualitative studies conducted using an interpretive phenomenological analysis method to examine the interviews with people who had received genetic testing and counseling. Implications for the broader counseling field were also presented.