A Tailored Approach to Family-Centered Genetic Counseling for Cystic Fibrosis Newborn Screening: The Wisconsin Model

This article describes the development of a tailored family-centered approach to genetic counseling following abnormal newborn screening (NBS) for cystic fibrosis (CF). A genetic counseling consortium reviewed research literature, selected theoretical frameworks, and incorporated counseling psychology micro skills. This innovative intervention integrated theories and empirically validated techniques. Pilot testing and parent feedback confirmed satisfaction with and feasibility of the approach designed to (a) minimize parents’ distress, (b) facilitate parents’ understanding, (c) increase parents’ capacities to use genetic information, and (d) enhance parents’ experiences with genetic counseling. Counselors engage in a highly interactive process of evaluating parents’ needs and tailoring assessments and interventions that include a therapeutic environment, the family’s emotional needs, parents’ informational needs, and a follow-up plan. This promising new model is the first to establish a theory-driven, evidence-based standard for genetic counseling in the context of NBS for CF. Additional research will evaluate the model’s efficacy in clinical practice.     

Beyond the Caster Semenya Controversy: The Case of the Use of Genetics for Gender Testing in Sport

Caster Semenya won the eight-hundred-meter title in the Berlin World Athletics Championships in 2009. Few hours after, Caster was at the center of a harsh contestation on gender. The International Association of Athletics Federations started an investigation, which was not respectful of her privacy. Caster’s case highlights the need for an improvement in the awareness of genetic counseling principles amongst professionals, the public and various stakeholders. We critically examine the historical steps of gender verification in the Olympics, the violation of genetic counseling principles in Caster’s case and outline some reflections on the complexity of the genetics of Disorders of sex development (DSD). Variability in both genotypes and phenotypes in DSD may not allow any etiological or functional classification at this point in time that could permit uncontroversial gender verification for fairer sport participation. We strongly suggest revisiting the pertinence of gender verification, and the process whereby this is done.     

Mentoring Nurses in Familial Cancer Risk Assessment and Counseling: Lessons Learned From a Formative Evaluation

Background. As familial cancer genetic services moves into community practice increased numbers of trained health professionals are needed to counsel individuals seeking cancer risk information. Nurses have been targeted to provide cancer risk assessment and counseling. To help prepare nurses for this role, a 5-day training in familial cancer risk assessment and counseling followed by a long-distance mentorship to support continued skill development in the work environment was conducted by Fox Chase Cancer Center, Philadelphia, PA. Methods. Four cohorts (N = 41) have completed the training and were randomized to either an immediate or delayed mentorship. A formative evaluation assessed the nurse’s ability to consult with other genetic health professionals and build self-efficacy in counseling skills via responses to questionnaire. A post-mentorship interview evaluated the usefulness, timing and length of the mentorship. Results. For both groups, there was a statistically significant improvement in self-efficacy for all skills from baseline to 6 months and an increased number of nurses consulting with genetic health professionals. All the nurses reported the value of the mentorship and those with less cancer risk counseling experience prior to the training needed support and resources for further skill and program development. Lessons learned from this formative evaluation are provided.     

Development of E-Info Geneca: A Website Providing Computer-Tailored Information and Question Prompt Prior to Breast Cancer Genetic Counseling

This article describes the stepwise development of the website ‘E-info gene^ca’. The website provides counselees in breast cancer genetic counseling with computer-tailored information and a question prompt prior to their first consultation. Counselees generally do not know what to expect from genetic counseling and they tend to have a passive role, receiving large amounts of relatively standard information. Using the “intervention mapping approach,” we developed E-info gene^ca aiming to enhance counselees’ realistic expectations and participation during genetic counseling. The information on this website is tailored to counselees’ individual situation (e.g., the counselee’s age and cancer history). The website covers the topics of the genetic counseling process, breast cancer risk, meaning of being a carrier of a cancer gene mutation, emotional consequences and hereditary breast cancer. Finally, a question prompt encourages counselees to prepare questions for their genetic counseling visit.     

Women’s Experience of Telehealth Cancer Genetic Counseling

Telegenetics offers an alternative model of delivering genetic counseling to rural and outreach areas; however there is a dearth of qualitative research into the patient’s experience. Twelve women who had received telemedicine genetic counseling for hereditary breast and/or ovarian cancer (HBOC) within the previous 12 months participated in a semi-structured telephone interview. The interview explored women’s experience with telegenetics, satisfaction, perceived advantages and disadvantages and quality of the interaction with their genetic professionals. Overall women were highly satisfied with telegenetics. Telegenetics offered them convenience and reduced travel and associated costs. The majority of women described feeling a high degree of social presence, or rapport, with the off-site genetic clinician. One woman with a recent cancer diagnosis, reported that telemedicine was unable to meet her needs for psychosocial support. This finding highlights the need to be mindful of the psychosocial support needs of women with a recent diagnosis being seen via telegenetics. Patients attending for HBOC genetic counseling are generally highly satisfied with the technology and the interaction. Care should be taken, however, with patients with more complex psychosocial needs.     

Living with Multiple Endocrine Neoplasia Type 1: Decent Care-Insufficient Medical and Genetic Information A Qualitative Study of MEN 1 Patients in a Swedish Hospital

This qualitative study explores how 29 Swedish patients with Multiple Endocrine Neoplasia type 1 (MEN1) experience living with the condition, appraisal of the clinical follow-up program, and surveys their future expectations. The aim of this study is to build knowledge about this patient group in order to provide optimal care. The participants describe physical, psychological, and social limitations in their daily activities and how these limitations influence quality of life. Our findings indicate that a majority of patients have adjusted to their situation, describing themselves as being healthy despite physical symptoms and treatment. The participants received decent care in the clinical follow-up program, - however, greater effort should be put into patient information. These patients might benefit from genetic counseling. Health professionals involved should recognize their potential impact and influence on a patient’s ability to adjust to these circumstances. Antonovsky`s Sense of Coherence theory is used to discuss these findings.     

Transition to the Clinical Doctorate: Attitudes of the Genetic Counseling Training Program Directors in North America

In North America, genetic counseling is an allied health profession where entry level practitioners currently must hold a master’s degree earned from a graduate program accredited by the American Board of Genetic Counseling. This is one of many health care professions that could transition to an entry level clinical doctorate degree. This study explored the attitudes of genetic counseling training program directors toward such a transition. Thirty-one North American program directors were invited to complete an online survey and a follow-up telephone interview. Twenty-one program directors completed the survey and ten directors also completed a follow up phone interview. There was disagreement among the respondents on the issue of transitioning to a clinical doctorate degree (nine in favor, six against and six undecided). Respondents disagreed about whether the transition would lead to higher salaries (six yes, eight no, and seven unsure) or increased professional recognition (eight yes, eight no, and four unsure). Approximately half (n = 10) of directors were not sure if the transition to a clinical doctorate would help or hurt minority recruitment; six thought it would help and four thought it would hurt. However, the majority (n = 13) thought a clinical doctorate would help genetic counselors to obtain faculty positions. If the field transitions to a clinical doctorate, 11 of the directors thought their program would convert, seven were unsure and one thought their program would shut down. Themes identified in interview data included 1) implications for the profession 2) institution-specific considerations and 3) perception of the unknown. Opinions are quite varied at this time regarding the possible transition to the clinical doctorate among genetic counseling training program directors.     

Prenatal Testing for Down Syndrome: Comparison of Screening Practices in the UK and USA

Prenatal testing for Down Syndrome is a topic covered in every genetic counselor’s training as it constitutes the main workload of genetic counselors in prenatal settings. Most Western countries nowadays offer some type of testing for Down Syndrome. However, practices vary according to country with regards to what tests are offered, insurance coverage and the legal situation concerning the option of terminating an affected pregnancy. In view of the growing interest in international genetic counseling issues, this article aims to compare prenatal testing practices in two English-speaking countries: the United Kingdom and the United States of America. A case will be presented to highlight some of the differences in practice. The topic underlines important implications for genetic counseling practice, such as patients’ understanding of testing practices, risk perception, counseling provision and impact of prenatal testing results.     

Pre-counseling Education for Low Literacy Women at Risk of Hereditary Breast and Ovarian Cancer (HBOC): Patient Experiences Using the Cancer Risk Education Intervention Tool (CREdIT)

The Cancer Risk Education Intervention Tool (CREdIT) is a computer-based (non-interactive) slide presentation designed to educate low-literacy, and ethnically and racially diverse public hospital patients at risk of Hereditary Breast and Ovarian Cancer (HBOC) about genetics. To qualitatively evaluate participants’ experience with and perceptions of a genetic education program as an adjunct to genetic counseling, we conducted direct observations of the intervention, semi-structured in person interviews with 11 women who viewed CREdIT, and post-counseling questionnaires with the two participating genetic counselors. Five themes emerged from the analysis of interviews: (1) genetic counseling and testing for breast/ovarian cancer was a new concept; (2) CREdIT’s story format was particularly appealing; (3) changes in participants’ perceived risk for breast cancer varied; (4) some misunderstandings about individual risk and heredity persisted after CREdIT and counseling; (5) the context for viewing CREdIT shaped responses to the presentation. Observations demonstrated ways to make the information provided in CREdIT and by genetic counselors more consistent. In a post-session counselor questionnaire, counselors’ rating of the patient’s preparedness before the session was significantly higher for patients who viewed CREdIT prior to their appointments than for other patients. This novel educational tool fills a gap in HBOC education by tailoring information to women of lower literacy and diverse ethnic/racial backgrounds. The tool was well received by interview participants and counselors alike. Further study is needed to examine the varied effects of CREdIT on risk perception. In addition, the implementation of CREdIT in diverse clinical settings and the cultural adaptation of CREdIT to specific populations reflect important areas for future work.     

Marriage and Family Therapists’ Ability to Diagnose Asperger’s Syndrome: A Vignette Study

The purpose of this study was to determine the degree to which AAMFT clinical members can accurately diagnose Asperger’s Syndrome. 171 AAMFT clinical members were surveyed using a vignette methodology. Participants were asked to read the vignette and provide a diagnosis for the child in the vignette. Four out of five participants were unable to correctly diagnose the vignette child with Asperger’s Syndrome. Analyses found that the ability to correctly diagnose Asperger’s Syndrome did not vary based on the participants: gender, years of clinical experience, or specialized clinical population (e.g., individuals, couples, families, children). Thomas Stone Carlson is an associate professor and Christi McGeorge is an assistant professor in the couple and family therapy program at North Dakota State University. Sarah Halvorson is a graduate of the couple and family therapy program at North Dakota State University and is in clinical practice in Illinois.     

Interactive Genetic Counseling Role-Play: A Novel Educational Strategy for Family Physicians

Background Family physicians (FPs) are increasingly involved in delivering genetic services. Familiarization with aspects of genetic counseling may enable FPs to help patients make informed choices. Purpose Exploration of interactive role-play as a means to raise FPs’ awareness of the process and content of genetic counseling. Methods FPs attending two large Canadian family medicine conferences in 2005 were eligible—93 participated. FPs discussed a case during a one-on-one session with a genetic counselor. Evaluation involved pre and post intervention questionnaires Results FPs’ baseline genetic knowledge was self-rated as uniformly poor. Baseline confidence was highest in eliciting family history and providing psychosocial support and lowest in discussing risks/benefits of genetic testing and counseling process. Post-intervention, 80% of FPs had better appreciation of family history and 97% indicated this was an effective learning experience. Conclusions Role-play with FPs is effective in raising awareness of the process and content of genetic counseling and may be applied to other health disciplines. This research was funded by: The Canadian Institutes of Health Research (CIHR) Institute of Genetics, The Genetics Education Project (funded by the Ontario Women’s Health Council), and GeneSens (funded by a CIHR Interdisciplinary Capacity Enhancement Team Grant).     

What I Wish I Knew Then...Reflections from Personal Experiences in Counseling about Down Syndrome

Sharing the news about a newborn baby’s diagnosis of Down syndrome with families is a scenario genetic counselors frequently face. Yet often we may feel uncomfortable or unsure how to best support families in this setting in a way that will foster competence and resilience. This commentary is a reflection of one genetic counselor’s experiences in counseling about Down syndrome over the course of her career and how her thinking has transitioned from a medical based model of disability to a more individual and family-focused model. Ideas and suggestions are offered that genetic counselors can incorporate into their practice.     

Risk Perception,Worry and Satisfaction Related to Genetic Counseling for Hereditary Cancer

In this multi center study, genetic counseling for hereditary cancer was evaluated by assessing patients’ worry, perceived risk of developing cancer and satisfaction with genetic counseling. An overall aim was to identify characteristics of vulnerable patients in order to customize genetic counseling. In addition, agreement between patients’ and counselors’ scores was measured. A total of 275 Norwegian patients were consecutively recruited, and 213 completed questionnaires before and after genetic counseling. Patients’ perceived risk decreased after the genetic counseling session. There was incongruence between risk perception expressed as a percentage and in words. Patients were significantly less worried after counseling. Higher levels of worry were predicted by low instrumental satisfaction with counseling, high degree of perceived risk of developing cancer and younger age. In conclusion, counselors met the patients’ psychological needs to a satisfactory degree during counseling. However, patients did not fully understand their risk of developing cancer.     

人的存在的历史性及其现代境遇

This article argues that the problem of modernity concerns the circumstances of existence and human destiny in modern times. To understand the nature of this problem and find the corresponding solution, we need to reinterpret the thought of Karl Marx regarding the contradictions of human existence and its historical dimensions. Following Marx’s line of thinking, this article reviews his critical sequence, creative transformation, and development of duality of thought on man and the world in Western history, focusing on the following four issues: (1) how Marx, on the basis of man’s sensuous objective activities, observes the duality of man and the world as well as the relationship between man’s internal and external activities; (2) how Marx discloses the true connotation and real significance of man’s historical existence, history, and historicity; (3) how Marx reveals the inherent contradictions of modern capitalist society and the destiny of modern man based on historic thought concerning man’s existence; and (4) by praising Marx’s views on material production and the eternal significance of ancient Greek culture, the article reveals another dimension of Marx’s thought, a dimension that tends to be ignored. This article holds that in this era of globalization, it is extremely important and urgent to have an in-depth understanding of Marx’s historical thoughts regarding human existence and of the feasibility of his theory. Moreover, it is imperative to further develop this understanding to create a clearer picture of our own path of development and our outlook on humanity. Translated by Cui Hui from Zhongguo Shehuikexue Wenzhai 中国社会科学文摘 (China Social Science Digest), 2005, (3): 44–46     

Expanding Roles: A Survey of Public Health Genetic Counselors

According to the 2008 National Society of Genetic Counselors (NSGC) Professional Status Survey (PSS), 31 genetic counselor respondents reported spending at least 50% of their time in the area of public health. The NSGC Public Health Special Interest Group (PHSIG) had 49 dues-paying members in 2009. The purpose of this study was to identify the work settings and public health activities in which genetic counselors participate. A novel online survey was disseminated over the NSGC PHSIG Listserv. Forty-one percent (n = 13) of public health genetic counselor respondents worked in a university medical system, while 53% (n = 17) were grant-funded and held a non-clinical appointment. The most common public health activities included educating healthcare professionals (82%) and community members (61%), research (55%), grant writing (55%) and grant administration (36%). Most respondents (82%) reported learning certain public health skills outside of their genetic counseling training programs. Differences in work settings were found, with a significantly greater percentage of public health genetic counselors working in government agencies. Genetic counselors have opportunities to become involved in public health activities as the scope of public health genetics grows. Furthermore, genetic counseling competencies are compatible with the Institute of Medicine’s “10 Essential Public Health Services.” The NSGC and genetic counseling training programs are encouraged to offer more public health learning opportunities for genetic counselors and genetic counseling students interested in this specialty area.     

Recommendation Recall and Satisfaction After Attending Breast/Ovarian Cancer Risk Counseling

This study examined women’s recall of physician recommendations as well as patient satisfaction following participation in a breast/ovarian cancer risk and prevention program. Participants were 41 high risk women who attended a cancer risk program 4–6 months earlier. Two-thirds of women who received recommendations for tamoxifen treatment and genetic testing did not recall these recommendations upon follow-up. A number of women misunderstood recommendations and a quarter of the sample recalled recommendations that were not made during the consultation. Although these high risk women were generally satisfied with their counseling visit, those individuals who received particularly complex sets of recommendations reported feeling less understood and were less satisfied with the counseling. Findings underline the importance of examining recommendation recall, in addition to perceptions of cancer risk, when evaluating the clinical implications of cancer risk assessment.     

Reflections by a Contextual Caregiver on Susan E. Myers-Shirk’s <Emphasis Type="Italic">Helping the Good Shepherd: Pastoral Counselors in a Psychotherapeutic Culture 1925–1975</Emphasis>

This article reviews Susan E. Myers-Shirk’s book from the lens of contextual caregiving in order to illustrate the text’s contribution in its attention to gendered moralism and the shift toward a liberal moral sensibility in the history of pastoral counseling; it also challenges the one-sided portrayal of the history of pastoral counseling in relation to issues of culture and power.     

Publishing a Master’s Thesis: A Guide for Novice Authors

Publication of original research, clinical experiences, and critical reviews of literature are vital to the growth of the genetic counseling field, delivery of genetic counseling services, and professional development of genetic counselors. Busy clinical schedules, lack of time and funding, and training that emphasizes clinical skills over research skills may make it difficult for new genetic counselors to turn their thesis projects into publications. This paper summarizes and elaborates upon a presentation aimed at de-mystifying the publishing process given at the 2008 National Society of Genetic Counselors Annual Education Conference. Specific topics include familiarizing prospective authors, particularly genetic counseling students, with the basics of the publication process and related ethical considerations. Former students’ experiences with publishing master’s theses also are described in hopes of encouraging new genetic counselors to submit for publication papers based on their thesis projects.     

Forming State Collaborations to Diversify the Nation’s Health Workforce: The Experience of the Sullivan Alliance to Transform the Health Professions

Diversifying the nation’s health professions is essential in order to maintain a vigorous health workforce, able to respond to the needs of all Americans. The inability of the health workforce to keep pace with the changing demographics of the nation is a major cause of the persistent inequities in access to quality health care for ethnic and racial minorities in the U.S. Ethnic and racial minorities have been underrepresented in the genetic counseling profession since its inception, despite vigorous professional initiatives to remedy this situation. Mittman and Downs published a critical review of these initiatives detailing recommendations for change in this journal in 2008. One of their major recommendations was the need to learn from, and join, efforts with other health professions in seeking to increase professional diversity in genetic counseling. This paper reviews new findings on issues impacting health workforce diversity in the nation, presents a case study of a national best practice to diversify the health workforce and illuminates actions that can be taken by the genetic counseling profession. The Sullivan Alliance to Diversify the Health Professions is a culmination of two historic initiatives for addressing the dearth of minority health professionals and is a national catalyst for increasing diversity within the health professions by forging state collaborations among institutions of higher education, health professions schools and other key stakeholders.     

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).