Genetic Counseling Practice Analysis

Regional Differences in the Beliefs and Practices Among Adults with Sickle Cell Disease Regarding Reproductive Health and Family Planning: A Sub-Analysis

Educational use of clinical simulation is a way for students to immerse themselves within a realistic yet safe and structured environment as they practice clinical skills. It is widely used in healthcare training and evaluation, and there are best practices for design, implementation, debriefing, and assessment. An increasing number of genetic counseling graduate programs use simulation in various ways, ranging from role-plays to working with professional simulated/standardized patient (SP) actors. At this time, there is very little consistency across programs, research on the approaches, and standards by which simulation is incorporated into training. Simulation is an understudied but promising approach for genetic counselor (GC) education and assessment. After graduation, GCs demonstrate their competence as entry-level providers through American Board of Genetic Counseling (ABGC) multiple-choice examination (MCE), along with their participatory clinical encounters from graduate training. Data from genetic counseling and other professions highlight the limitations and biases of MCEs, suggesting they not only fail to accurately capture competency, but also that they disadvantage underrepresented individuals from entering the field. In addition, MCEs are limited as a tool for assessing nuanced counseling and communication skills, as compared to more quantitative scientific knowledge. We propose that innovative, evidence-based approaches such as simulation have the potential to not only enhance learning, but also to allow GCs to better demonstrate competency during training and in relation to the board examination. Collaborative approaches, research, and funding are needed to further explore the viability of routinely incorporating simulation into GC training and assessment.

Building the Genetic Counsellor Profession in the United Kingdom: Two Decades of Growth and Development

Disparities in completion of genetic testing and counseling for Lynch syndrome in high-risk patients diagnosed with endometrial cancer (601)

The changing role of infection prevention practice as documented by the Certification Board of Infection Control and Epidemiology practice analysis survey

Practice analysis for infection control and epidemiology in the new millennium

2012 National Society of Genetic Counselors Presidential Address: Maintaining Our Professional Identity in an Ever‐Expanding Genetics Universe

Assessment of nurses' perception of role of genetics in development of breast cancer at Federal Teaching Hospital, Ido-Ekiti

Master level genetic counseling training programs have existed in the United States of America (USA) since 1969. There are now 31 programs to train genetic counselors in the USA, 4 programs in Canada, and 2 programs in Australia. These programs generally train non-medical health professionals (individuals with a BSc or MSc). There are 25 additional programs worldwide, training a combination of physicians, nurses, and non-medical health professionals. Students in the USA, Canada and Australia are required take a certification examination and licensure privileges dependent on the rules of a specific state or providence. The roles of genetic counselors have evolved with genetic medicine. Initial work of genetic counselors involved predominately direct patient care in the prenatal, pediatric and adult genetic clinics. When a hereditary component to cancer was recognized, there was an increasing need for genetic counselors for the consultation and results interpretation in cancer care. With the completion of the Human Genome Project in 2003 and the decreasing cost of next generation sequencing, there has been a plethora of molecular genetic studies that have been available to the genetics provider. Many genetic counselors have migrated to the laboratory setting to assist providers with the selection and interpretation of laboratory studies. With this great expansion of genomic testing available, there has been a concomitant identification of genomic alterations of uncertain significance that require extensive evaluation to determine clinical significance. Genetic counselors have been essential for this work in both the research and clinical setting. Genetic counselors have been recognized as one of the most needed health care professionals in the USA in the next decade. The role of the genetic counselors in emerging countries is complex with the simultaneous need for direct patient care and the support of laboratory services. The development of programs in emerging countries will need to train students with a broad spectrum of skills to include both direct clinical care and to understanding the current complexities of genomic testing. Anticipating social and emotional needs of multiple populations within a country will be an ongoing challenge. Commitment of trained professionals from established clinical genetic programs can facilitate educational support for programs in emerging countries. With this Asia Pacific Meeting, there was a preconference to support genetic counseling in the region. The results of the questionnaire presented to the 70 attendants of this pre-conference will be presented with projections of future needs for genetic counseling training in this region.

Trauma-informed practice (TIP) is an emerging model of care that acknowledges the widespread impact of trauma and emphasizes both physical and psychological safety for consumer and provider. It is being increasingly integrated into models of healthcare delivery, organizational policies, and practices, and has been shown to improve clinical interactions, increase treatment adherence, and improve healthcare outcomes. However, to date, TIP has not yet been systematically integrated into genetic counseling training and practice. In this study, using the RISE2 Genomics reporting standard, we present the outcomes of developing and evaluating a TIP workshop designed and delivered for genetic counselors in New South Wales, Australia. This workshop was the first of its kind and addressed the unique clinical and psychosocial challenges that genetic counselors face, including the risk of vicarious trauma and the high rates of burnout in the profession. The workshop aimed to enhance genetic counselors' understanding of trauma and its effects, provide practical strategies for communication and engagement with trauma-affected individuals, and offer guidance on incorporating TIP into clinical practice. Genetic counselors who participated in the TIP training expressed strong appreciation for the workshop and reported increased awareness of the ubiquity of trauma and the presentation of traumatic responses, and increased self-perceived knowledge and confidence in providing trauma-informed care. Additionally, participants were interested in ongoing TIP professional development and the integration of TIP into models of genetic counseling and professional practice. As the field of genetic counseling continues to evolve, we suggest that integrating TIP into training, professional development, and practice will not only improve client outcomes but also reduce rates of vicarious trauma and burnout among genetic counselors. This study is the first to consider the educational needs and the incorporation of TIP into genetic counseling practice, and in doing so, it paves the way for future research and policy development that integrates TIP into models of genetic counseling.

Genetic counselors are on the front lines of the genetic revolution, presented with tests of varying predictive values and reliability, unfair testing distribution mechanisms, tests for conditions where no treatment exists, and companies that oversell the usefulness of their tests to physicians and nurses. Many scholars, both genetic testing task forces as well as the newly formed National Bioethics Advisory Commission, have all noted that genetic counseling programs and services are critical for adequate genetic testing. At the same time, in our own work at the University of Pennsylvania we have encountered many requests for new materials for training genetic counselors in ethics and providing ethics resources for genetic counseling. One of us has noted elsewhere that it is crucial that resources from the Human Genome Project, the Centers for Disease Control, and other public agencies be devoted to providing better resources for genetic counselors facing difficult ethical issues. Although the American Board of Genetic Counseling requires that training programs include some formal coursework in ethics, many wonder whether enough is being done to prepare genetic counselors for an ever-tougher job, and in particular there has been much concern expressed about whether “nondirectiveness” is an outmoded ideal that hampers this profession as it attempts to grow and identify the value of its practice. On the basis of many comments to us by genetic counselors and on the basis of our review of the current literature, we hypothesized that accredited genetic counseling training programs are poised at the turn of the century to begin planning a new approach to teaching the philosophy of genetic counseling, one that integrates philosophical, theoretical, and ethical training throughout the curriculum in genetic counseling.

Despite concerted and accelerated efforts to increase the knowledge of medicine and disease via clinical studies, clinical trials continue to face low enrollment for all patient groups. The dissemination of the availability of clinical trials to individuals with or at risk for hereditary disorders is critical. This study acts as a foundation in determining an unexplored role of clinical trial discussion in genetic counseling practice. Board‐certified, patient‐facing genetic counselors in the United States were invited to participate in an anonymous survey via the National Society of Genetic Counselors. Between February and April 2022, 157 participants (N = 157) completed the survey on clinical trial discussion with patients, barriers, and facilitators to discussing clinical trials with patients, research experience, and demographics. Survey results identified that most respondents have discussed the availability of clinical trials with a patient (85%). Almost one‐third have previous research experience working for a clinical trial (30%). Most agreed that discussions of clinical trials are within the scope of genetic counseling (82%); however, one‐third were not comfortable discussing them with patients (34%). Respondents who know how to find specific clinical trials (p < 0.001) were reportedly more likely to be comfortable discussing clinical trials with their patients. In addition to clinical research exposure, this study suggests that further education and training is necessary for genetic counselors to learn how to find and identify specific clinical trials for their patients. In turn, we hope for this to increase genetic counselors' comfort of clinical trial discussion.

Genetic Counseling and Testing for Pulmonary Arterial Hypertension in the United States

Intimate partner violence (IPV) is a major health concern in the United States (ACOG 2013). The World Health Organization (WHO) describes IPV as any physical, sexual, psychological harm by a current or former intimate partner (WHO 2016). Due to the psychosocial depth and nature of discussions within genetic counseling sessions, patients may disclose and/or discuss IPV as it relates to sexual well-being, reproductive and overall health. This study aims to assess the role for IPV screening, counseling and intervention in genetic counseling practice by investigating the incidence, experiences and attitudes about IPV among genetic counseling patients. Patients receiving genetic counseling at an urban metropolitan hospital were anonymously surveyed about experiences and perspectives on IPV as a topic of discussion during genetic counseling sessions. Among 60 eligible patients, 50 completed the survey (49 females, 1 male, of which, 5 identified as LGBT) ages 20 to 66. The incidence of IPV in this group was 16.0% (n=8). Majority of participants had never been asked about IPV by a healthcare provider (n=32; 64.0%), would have felt comfortable answering questions about IPV by their healthcare provider (n=34; 68.0%), and would have felt comfortable answering questions about IPV by their genetic counselor (n=39; 78.0%). Perspectives from all participants, notably those with IPV history, provided insights to the role of genetic counselors in areas for IPV screening and counseling training.

This chapter focuses on education for certified genetic counselors in the United States and Canada, including the history of genetic counseling education, drivers of genetic counseling education, general and curricular development of genetic counseling graduate programs, relevant educational models, and development of advanced genetic counseling skills. Drivers include education consensus conferences; competency-based certification and accreditation; licensure, billing, and reimbursement practices; genetic counseling practice changes such as the expansion of subspecialty and nondirect patient care; consumer self-advocacy; professionalization of the genetic counseling field; and international growth of the profession. Curriculum development includes typical and variable features of genetic counseling programs, influence of the Genetic Counselor Educators Association, and challenges to genetic counseling education. The most influential general education models are experiential learning, self-directed learning, and communities of practice. Advanced education includes continuing education, additional paths to advanced skill development, a model of advanced genetic counseling education, and a career trajectory framework.