Genetic counseling for the next 25 years: Models for the future

Currently, two trends pose particular challenges for genetic counseling: (1) spin offs from the Human Genome Project leading to new diagnostic genetic tests far in advance of any cures; and (2) an increasing and diversified client population. These trends will lead to changes in both genetic service delivery systems and the development of alternative models of the genetic counseling process itself. Two models that could be adapted for genetic counseling are: the mutual participation model and the life history narrative model. Technological advances present ethical dilemmas and raise many questions. Already, improved detection of genes for predisposing conditions has entered clinical medicine requiring renewed ethical appraisals of genetic testing. Integration of genetic counseling (and required pre-screening education) into primary care settings involves time constraints and the involvement of health care personnel with less training in genetics. Alternative approaches are beginning to be discussed. Innovative genetic counselors with expanded visions of counseling goals and practices will play an increasingly important role in the future of genetic counseling.     

The human genome project: A public forum. Report on a model conference for genetics professionals and consumers

This paper reports on the rationale, objectives, and outcome of a conference titled The Human Genome Project: A Public Forum. One of the distinguishing features of this conference was that it included both genetics professionals and consumers of genetics services in a dialogue about the potential ethical, legal, and social implications of learning more about one's genes. The conference was planned to yield two products: (1) a set of recommendations for planners of future educational, research, and public policy efforts related to the Human Genome Project; and (2) an assessment of participants' pre- and post-conference knowledge and opinions about the Human Genome Project.     

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).     

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.     

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.     

Professional preparation of individuals who provide genetic counseling services

An unprecedented increase has occurred in demand for genetic counseling services during the current decade. This study examined the complex issue of who currently provides genetic counseling services and the professional preparation of these personnel. A self-administered questionnaire was mailed to 325 genetic counseling professionals in the southeastern United States who were members of the Southeast Regional Genetics Group (SERGG), National Society of Genetic Counselors, or American Society of Human Genetics States; 204 completed the questionnaire (63%). Seventy percent of respondents were female and 30% were male. Thirty percent of respondents held MD degrees; nine physicians held PhD degrees. Most physicians were male. Thirty-two percent of respondents held master's degrees in genetic counseling; five counselors held PhD degrees. Twenty-three percent of respondents were nurses; eight nurses held master's degrees. Three percent of respondents were social workers. Individuals with other degrees, such as an associate of science in medical technology and a doctoral degree in education, also provided genetic counseling. Genetic counseling typically involved a team effort, consisting mainly of physicians and genetic counselors. Most respondents reported college coursework in human genetics, supervised training, and seminar/workshop training. Thirty percent reported college coursework in counseling techniques, supervised training, and seminar/workshop training. Policy recommendations are offered concerning professional preparation of genetic counselors.     

Coming Full Circle: A Reciprocal-Engagement Model of Genetic Counseling Practice

As genetic health care and genetic testing expand from primarily addressing conditions that are exclusively genetic in nature to common diseases with both genetic and environmental components, the scope of genetic counseling has grown. Identification and utilization of a normative model of practice defined by members of the profession is critical as genetic services become more commonplace in medical care. The purpose of this paper is to describe the results of a consensus conference convened to define a model of genetic counseling practice based on the guidance of educators and leaders in the profession. Twenty-three program directors or their representatives from 20 genetic counseling graduate programs in North America listened to presentations and participated in group discussions aimed at determining the elements of a model of practice, including tenets, goals, strategies, and behaviors for addressing patients’ genetic concerns. Their discussion is summarized, training implications and research recommendations are presented, and a model of practice that extends their ideas is proposed.     

BRCA1 Testing: Genetic Counseling Protocol Development and Counseling Issues

This article discusses the genetic counseling protocols which were developed and counseling issues that have arisen in the first 2 years of evaluating a large kindred with a BRCA1 mutation. The rationale for the development of the genetic counseling protocols and specific genetic counseling visual aids are presented and discussed. The protocols and counseling aids can serve as models for other programs offering cancer susceptibility testing. The observations of study counselors about study subject concerns and responses to genetic testing at the time of the pretest and posttest counseling sessions are presented.     

A New Definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force Report

The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: •Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. •Education about inheritance, testing, management, prevention, resources and research. •Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.     

Update and Review: Cystic Fibrosis

Cystic fibrosis (CF) is one of the most commonly inherited recessive disorders in U.S. Caucasians, with a carrier frequency of approximately 1 in 29. Genetic counseling and CF mutation analysis has traditionally been offered to the affected patient and his/her extended family, in keeping with policy statements from professional organizations (ASHG, NSGC, ACOG). The target population for CF testing and counseling may be evolving after the release of the 1997 National Institutes of Health Consensus Statement, Genetic Testing for Cystic Fibrosis, which recommends that CF screening be offered to all preconceptional and pregnant couples. Genetic counseling for CF is complicated by reports of polymorphisms in the CF gene that are associated with symptoms that do not meet the diagnostic criteria for CF, such as bilateral congenital absence of the vas deferens, bronchiectasis, and idiopathic pancreatitis. To aid genetic counselors with these issues, this review explores the symptoms of CF, patient management, gene function, genetics, genotype/phenotype correlation, and genetic counseling issues.     

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.     

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     

Developing Standard Recommendations (Guidelines) for Genetic Counseling Practice: A Process of the National Society of Genetic Counselors

The National Society of Genetic Counselors (NSGC) supports the development of practice recommendations (guidelines) in the field of genetic counseling. This paper reviews the basic components of NSGC genetic counseling practice recommendations as well as the process for formal adoption of such documents, as approved by the Board of Directors of the NSGC.     

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.     

Client Perceptions of the Impact of Genetic Counseling: An Exploratory Study

Twenty-eight former genetic counseling clients seen at a major Midwestern university were recruited to be interviewed about their genetic counseling experiences, including most and least helpful aspects, what they learned, how this information impacted their decision-making, and their perceptions of their genetic counselors' behaviors. Responses were inductively analyzed, and several themes were identified, including: Clients sought genetic counseling to obtain genetic-medical information; a majority accurately recalled this information; genetic counseling influenced decisions for about 50% of the sample; decision-making was affected by several extra-session factors; a majority experienced distress during the session; most perceived genetic counselor responses as nondirective and liked this approach; counselor behaviors regarded as directive involved discussion of pregnancy termination; participants disagreed about the need for and provision of genetic counselor support; most regarded the session as helpful and stated that they would seek genetic counseling again. Suggestions for addressing these issues in practice and research are given.     

Human genome research in an interdependent world.

This has been the year of agenda-setting conferences for the ambitious ELSI (ethical, legal and social issues) program of the Human Genome Project (HGP). But of the dozen or more major meetings of this sort held across the country, the one held at the National Institutes of Health (NIH) in Bethesda, MD, June 2-4, 1991, was distinctive in several respects. As its name implies, "Human Genome Research in an Interdependent World" was a global look at the issues raised by gene mapping and sequencing. Unlike previous conferences, however, this meeting looked beyond a comparative analysis of clinical and domestic legal issues, and concentrated on topics that may require responses on a truly international level if they are to be successfully resolved....[Capron served as general chairman of the conference]     

Career Research Interests and Training of Genetic Counseling Students

Research is important to validate clinical services, provide information on the effectiveness of practice techniques, and develop the knowledge base of a clinical profession. Genetic counseling students from American Board of Genetic Counseling (ABGC) accredited training programs were surveyed to determine their career research interests and interest in pursuing a hypothetical doctoral degree in genetic counseling. Genetic counseling program directors were surveyed to assess the emphasis on research training within their programs. A substantial number (46%, n = 92) of genetic counseling students are interested in performing research in their careers and many (40%, n = 80) would pursue a doctoral degree in genetic counseling if it was available. Students and directors from programs with a thesis requirement reported a significantly higher emphasis on career research preparation than those from programs without a thesis requirement. The results of this study indicate that future genetic counselors are interested in contributing to the research base that will advance the field. This study suggests a need to strengthen research training within ABGC accredited graduate programs and explore the development of a doctoral degree option in genetic counseling.     

A Survey of Genetic Counselors' Use of Informed Consent Documents for Prenatal Genetic Counseling Sessions

Thirty six members of the Prenatal Diagnosis Special Interest Group of the National Society of Genetic Counselors were interviewed about their use of informed consent documents for the genetic counseling component of their prenatal genetic counseling sessions and their perceptions of the utility and feasibility of such documents. Major findings include (1) None of the genetic counselors currently used a consent document describing the genetic counseling component of the session itself; (2) Only three participants stated that they had ever used an informed consent document for this component of the session; (3) They disagreed about the importance and usefulness of such a document; (4) There was variability in their reported likelihood of using a document if one were available; (5) There was a fair amount of agreement about the types of information to include on an informed consent document for genetic counseling; over half of the sample endorsed 8 of 10 topics; and (6) Participants identified 10 obstacles to using such a document. Recommendations for genetic counseling practice, policy, and research are given.     

Cancer Risk Assessment Using Genetic Panel Testing: Considerations for Clinical Application

With the completion of the Human Genome Project and the development of high throughput technologies, such as next-generation sequencing, the use of multiplex genetic testing, in which multiple genes are sequenced simultaneously to test for one or more conditions, is growing rapidly. Reflecting underlying heterogeneity where a broad range of genes confer risks for one or more cancers, the development of genetic cancer panels to assess these risks represents just one example of how multiplex testing is being applied clinically. There are a number of issues and challenges to consider when conducting genetic testing for cancer risk assessment, and these issues become exceedingly more complex when moving from the traditional single-gene approach to panel testing. Here, we address the practical considerations for clinical use of panel testing for breast, ovarian, and colon cancers, including the benefits, limitations and challenges, genetic counseling issues, and management guidelines.     

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.