Nuance, Complexity, and Context: Qualitative Methods in Genetic Counseling Research

Because of its potential for capturing complexity and process and its focus on communicating the meaning in human action, qualitative research is rapidly gaining acceptance in a wide variety of disciplines. Various qualitative approaches to research support its potential usefulness in genetic counseling research. Formulation of research questions and selection of appropriate qualitative methods are the first step. Interviewing, narrative analysis, focus groups, ethnography/participant observation, and participatory action research are only some of the most popular techniques that may be suitable in various situations. Processes of evaluation, analysis, and even ethical issues often differ somewhat from quantitative research. This article discusses these issues and the potential value of qualitative methods for research related to genetic counseling.     

Grounded Theory and Grounded Action: Rooted in Systems Theory

The research methodologies of grounded theory and grounded action are framed by a systems perspective, from which they contribute their own unique properties and processes to the evolution of systems thinking. The author provides definitions for systems, theory, grounded theory, grounded action, and systems thinking, and explores the relationships between theory, grounded theory/grounded action, and systems thinking with regard to purpose, context, and usefulness for the resolution of social concerns and systemic change.     

Complex Genetic Disorders: Evaluating When Genetic Research Findings Are Applicable for Genetic Counseling Practice

Traditional genetic counseling processes and principles will be extended to a new realm—complex disorders. Although it may seem like a daunting task, understanding the methodologies used to study complex genetic disorders will enable genetic counselors to critically analyze research studies involving complex disorders. In this article, we explain newly evolving methodologies for genetic research, including case-control studies and transmission disequilibrium testing (TDT). Additionally, a framework is provided for evaluating original research findings and replication studies.     

Psychological Aspects of Genetic Counseling. X. Advanced Counseling Techniques

Four procedures commonly used by experienced counselors are described: simple interview formulations, helping clients think through their problems, reframing, and role playing. Each procedure is illustrated by examples. Among other things, the goal of these procedures is to promote the autonomy and self-directedness of clients and thus are particularly valuable in circumstances requiring a nondirective stance. The need is underscored for a more active counseling stance appropriate to the psychological and problem-solving needs of genetic counselees.     

Qualitative Cancer Genetic Counseling Research, Part I: Ethnography in a Cancer Clinic

This is a report of the experience of several months' ethnographic research by a genetic counselor researcher in a cancer treatment clinic. One goal of the exercise was to directly experience a method of qualitative research known as ethnography, which relies heavily on participant-observation, in an applied clinical setting. Another goal was to explore a previously undescribed research area in the genetic counseling literature, namely, the meaning of cancer and cancer treatment for affected individuals and their support companions. Here we report on a personal account of the experiences of conducting and publishing the research. The preliminary analysis and results of this field experience are published elsewhere (Peters et al. (2001) J Genet Counsel 10(2):151–168.). These initial findings support the feasibility of genetic counselors, who are trained in specific social science methodologies, to conduct qualitative research pertinent to genetic counseling practice.This work was completed at the University of Pittsburgh before employment at the National Cancer Institute (NCI) and does not represent the views of the NCI, the National Institutes of Health, the Department of Health and Human Services, or the Federal Government     

Psychological Aspects of Genetic Counseling: XII. More on Counseling Skills

Three brief excerpts of genetic counseling sessions are analyzed to illustrate difficulties in applying counseling skills. Suggestions are advanced as to how genetic counselors might improve their competence in counseling practices and handle such issues as transference more effectively.     

Grounded Theory in Genetic Counseling Research: An Interpretive Perspective

As qualitative inquiry has gained wider acceptance in genetic counseling research, it has become increasingly important for researchers and those who evaluate their work to recognize the diversity of methods that fall under this broad umbrella. Some of these methods adhere to the traditional conventions of scientific research (e.g., objectivity, reliability, validity, replicability, causality and generalizability). When such studies are evaluated by reviewers who are well versed in scientific methods, the rigor of the study may be readily apparent. However, when researchers are using methods that do not conform to traditional scientific conventions, the distinction between well conducted and poorly conducted studies may become more difficult to discern. This article focuses on grounded theory because it is a widely used qualitative method. We highlight key components of this method in order to contrast conventions that fall within a scientific paradigm to those that fall within an interpretivist paradigm. The intent is to illustrate how the conventions within these two different paradigms yield different types of knowledge claims—both of which can advance genetic counseling theory and practice.     

Qualitative Cancer Genetic Counseling Research, Part II: Findings from a Exploratory Ethnographic Study in a Cancer Clinic

This is a report of the preliminary findings of a brief exploratory ethnographic study in a cancer diagnosis and treatment clinic. The main research purpose was to explore the meaning of cancer and cancer treatment to patients themselves and to their relatives and close friends. The methods are described in detail in a paper focusing on the experiences of being a novice ethnographer (Peters et al. (2001) J Genet Counsel 10(2):133–150.). The preliminary results of this exploratory fieldwork indicate that the experience of attending a cancer treatment clinic for evaluation and/or treatment is a complex social, emotional as well as medical process for patients and families. Themes with relevance to genetic counselors that emerged from this early observation period included ideas about causes of cancer, the complex nature of families and kinship, coping and support, use of food, and healing. These initial findings have implications for genetic counseling practice and hopefully will stimulate more qualitative social and behavioral research in cancer genetic counseling.     

Psychosocial Genetic Counseling in the Post-Nondirective Era: A Point of View

For three decades nondirectiveness has served as the central ethos for genetic counseling. It has evolved from narrow definitions defining what should not be done to broad definitions that promote active counseling skills in support of client autonomy and informed decision making. As broad definitions have been formulated, the term nondirective has become largely irrelevant to their content; it persists primarily as a historic relic. It has thus become an impediment to creative theory and clinical practice. I propose that nondirectiveness be replaced as the central ethos, while relevant components (providing balanced information, not imposing the counselor's values) are retained as elements of practice and ethics. This raises the question of what principle(s) should be adopted as a new guiding ethos. To promote a discussion of that issue I propose that the central ethos of genetic counseling should be to bring the psychosocial component into every aspect of the work.     

Probability Biases in Genetic Problem Solving: A Comparison of Undergraduates, Genetic Counseling Graduate Students, and Genetic Counselors

Heuristics are mental shortcuts that aid people in everyday problem-solving and decision-making. Although numerous studies have demonstrated their use in contexts ranging from consumers’ shopping decisions to experts’ estimations of experimental validity, virtually no published research has addressed heuristics use in problems involving genetic conditions and associated risk probabilities. The present research consists of two studies. In the first study, 220 undergraduates attempted to solve four genetic problems—two common heuristic problems modified to focus on genetic likelihood, and two created to study heuristics and probability rule application. Results revealed that the vast majority of undergraduates used heuristics and also demonstrated a complete misuse of probability rules. In the second study, 156 practicing genetic counselors and 89 genetic counseling students solved slightly modified versions of the genetic problems used in Study 1. Results indicated that a large percentage of both genetic counselors and students used heuristics, but the counselors demonstrated superior problem-solving performance compared to both the genetic counseling students and the undergraduates from Study 1. Research, training, and practice recommendations are presented.     

Systemically-Based Psychotherapeutic Techniques in Genetic Counseling

The uses of systemically-based psychotherapeutic methods in genetic counseling are discussed in the context of the origin of genetic counseling, the definition of genetic counseling, and the adjustments that one must make in order to implement these methods. Selected systemic methods which can be readily incorporated into genetic counseling are presented: use of genograms to explore family attitudes and beliefs about genetic risk, communications skills, and applications of family of origin work in genetic counseling. The need for research regarding the methodology and process of genetic counseling is presented with discussion of the need for theories of practice for genetic counseling.     

An Evolutionary Theory of Diversity: The Contributions of Grounded Theory and Grounded Action to Reconceptualizing and Reframing Diversity as a Complex Phenomenon

The author discusses the contributions of grounded theory and grounded action to the development of a new, and evolutionary, theoretical framework for understanding diversity as a complex phenomenon. She discusses the work of Thomas and Gregory as pioneers in expanding the conceptualization of diversity, arguing that this new understanding increases the potential for creative action in systems.     

Games in Clinical Genetic Counseling Supervision

Games are defined as ongoing series of complementary ulterior transactions that are superficially plausible but have a concealed motivation to maximize pay-offs and minimize penalties for the initiator. While some games are harmless and part of socialization, others are destructive. Destructive game-playing in clinical supervision, in which game-playing (initiated by either supervisors or students) interferes with a student's realization of internship goals, has been documented in some allied healthcare professions but has not yet been studied in genetic counseling. Genetic counselors and clinical supervisors of genetic counseling students were anonymously surveyed regarding their experiences with destructive game-playing. Results show that such games do occur in genetic counseling clinical supervision. Some games are the same or similar to ones previously described in other health-care professions; others may be unique to genetic counseling. The purpose of this paper is to document these games as a first step to facilitating dialogue, understanding and awareness of them.     

The Role of Expectations in Effective Genetic Counseling

The goals for this investigation were to assess individuals' expectations for social support from genetic counselors, and to explore how these expectations influence perceptions of genetic counselor effectiveness. Two studies were conducted to address these goals. Results from the first study show that individuals most frequently expect genetic counselors to provide options and support following the disclosure of distressing test results, while data from the second study demonstrate that expectations play a significant role in individuals' assessment of genetic counselor effectiveness. These findings shed light on what individuals expect from genetic counselors following the disclosure of medically positive test results and inform how these expectations influence the success of genetic counseling sessions.     

Development of the Critical Elements of Genetic Evaluation and Genetic Counseling for Genetic Professionals and Perinatologists in Washington State

We present a method for the development of consensus documents describing the components of genetic evaluation and genetic counseling for various diagnoses. These documents were developed to encourage consistency among genetic professionals in Washington State. Other possible uses of these documents are to provide information regarding genetic evaluations for health care practitioners and payers, and to assist in quality assurance and genetic training programs. A working group of six genetic professionals developed two templates for the critical elements of genetic evaluation and genetic counseling, for clinical (nonprenatal) and prenatal patients. The working group then completed prototype templates for several specific genetic disorders. The templates and prototypes were sent to interested genetic professionals and perinatologists who submitted a total of 76 draft critical elements (CE's) to the working group. At two statewide meetings, participating practitioners modified and unanimously approved the CE templates, then unanimously approved the 21 draft CEs that had been finalized in small group discussions. Approved CE's were distributed to genetic professionals and perinatologists within the state.     

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.     

Genetic Counseling and Screening Issues in Familial Dilated Cardiomyopathy

Idiopathic dilated cardiomyopathy (IDC), a treatable condition characterized by left ventricular dilatation and systolic dysfunction of unknown cause, has only recently been recognized to have genetic etiologies. Although familial dilated cardiomyopathy (FDC) was thought to be infrequent, it is now believed that 30-50% of cases of IDC may be familial. Echocardiographic and electrocardiographic (ECG) screening of first-degree relatives of individuals with IDC and FDC is indicated because detection and treatment are possible prior to the onset of advanced, symptomatic disease. However, such screening often creates uncertainty and anxiety surrounding the significance of the results. Furthermore, FDC demonstrates incomplete penetrance, variable expression, and significant locus and allelic heterogeneity, making genetic counseling complex. The provision of genetic counseling for IDC and FDC will require collaboration between cardiologists and genetics professionals, and may also improve the recognition of FDC, the availability of support services, and overall outcomes for patients and families.     

A Survey of Clinical Supervision in Genetic Counseling

Three hundred and thirty-five full members of the National Society of Genetic Counselors completed a survey concerning the nature of clinical supervision for genetic counseling students. Slightly over half (54.3%, n = 182) had provided clinical supervision within the past 5 years. Of those who supervised, 66.7% had 5 years or less supervision experience, and 55% had supervised 10 or fewer students. The majority became supervisors because they enjoy teaching and contributing to the profession. Common reasons for not supervising include no local graduate program, and had never been asked to supervise. Live supervision is the most prevalent student evaluation method: every supervisor reported providing one-on-one oral feedback, and 47.3% indicated that they always provide feedback immediately following a counseling session. The most frequent challenges involve students who lack technical knowledge and who fail to incorporate feedback. Training, policy, and research implications are discussed.     

Spiritual Assessment in Genetic Counseling

One hundred and twenty seven full members of the National Society of Genetic Counselors participated in this study exploring current spiritual assessment practices of genetic counselors and reactions to a spiritual assessment tool. While 60% of genetic counselors reported they had performed a spiritual assessment within the past year, fewer than 8.7% of these counselors assessed spirituality in more than half of their sessions. Counselors reporting high perceived relevance of spiritual assessment performed an assessment more frequently than those reporting a low perceived relevance. Barriers to spiritual assessment included lack of time, insufficient skills, and uncertainty regarding the role of spiritual assessment within genetic counseling. Almost two-thirds of counselors expressed that having a spiritual assessment tool would increase their ability to elicit relevant information. These data suggest a need for increased training regarding the methods for and relevance of spiritual assessment in genetic counseling. Recommendations for future directions of research are explored.