Journal of Genetic Counseling最新文献

The 2025 incoming presidential address outlines reflections on a personal leadership journey that positions the incoming president for success in this particular era, and presents a vision for advancing the genetic counseling profession. The development of leadership values in the journey were grounded in resilience, collaboration, and the integration of diverse perspectives. Building on this foundation, the address highlights forthcoming milestones that will shape the field. The achievement of Medicare recognition for genetic counselors is described as a pivotal step toward expanding patient access, promoting equity in genomic healthcare, and ensuring the sustainability of practice. Beyond reimbursement, the importance of securing representation at decision-making tables is emphasized, with the goal of positioning genetic counselors to influence healthcare policy, genomic professional strategy, and clinical innovation. The vision also includes efforts to elevate public awareness, advancing the visibility of genetic counselors to establish the profession as widely recognized and valued across healthcare and society. Modernization of clinical practice is discussed as an essential priority to adapt to rapidly evolving genomic technologies, emerging care models with increasing patient demand, and better integration and sustainability throughout the national healthcare system. The address also underscores the organizational responsibility to create and sustain an environment of inclusion and belonging, fostering professional growth and engagement for all members. Together, these themes articulate a comprehensive framework for leadership and organizational action, aimed at strengthening the profession's role in delivering equitable, innovative, and patient-centered genomic care in any setting of practice.

Effective breast cancer (BC) screening relies on shared decision-making and clear communication to help patients understand their risk and choose strategies aligned with that risk. The CanRisk tool was used to estimate BC risk in healthy women with a familial history of BC and the absence of a pathogenic variant in BC genes. Results were disclosed to patients using different formats, and data were collected to analyze the association between patient characteristics and risk communication preferences. Participants preferred their risk explained by percentages (59%) over fractions (15%), icon arrays (13%) or risk groups (13%) and 10-year risk estimation was favored to remaining lifetime risk (71% vs. 22%). Participants highlighted the use of positive and negative formats and comparison with the population's risk formats, and line graphic (61%) was selected over numerical table or a color-graph (19% each). However, participants with lower numeracy preferred color graphics (OR: 1.42; 95% CI 1.15–1.77 p = 0.001). The use of percentages, line graphics, and 10-year risk formats are highly accepted for healthy participants with a family history of BC, although adaptation may be needed for those with lower numeracy skills.

There are over 130 genetic counselor (GC) training programs documented in more than 30 countries. Some regions also have developed practice-based competencies and guidelines for accrediting GC training, often including lists of required curriculum items (for example: ACGC, CAGC, EBMG, HGSA). However, areas where genetic counseling is emerging or desired may struggle to create training approaches from these often-aspirational knowledge and skill development lists. In a collaborative effort between the Human Genome Organization (HUGO) Education Workgroup and the Transnational Alliance for Genetic Counseling (TAGC), we conducted a global consensus process to assess and deliberate over which knowledge and skills were broadly considered ‘core’ to the GC educational process. We utilized an online-modified Delphi process to survey a purposive global sample of GC education providers and members of credentialing boards from countries with established GC and medical genetics providers in areas where GC education is newly emerging. We identified a list of 64 potential topics through a literature review and review of relevant curriculum guidelines and professional competencies. We then assessed relevance in a 2-round survey process using the criteria of >80% agreement. Topics that met these criteria, including those that were borderline, were discussed in two online consensus meetings. We present the consensus list of 25 content topics across four major areas of knowledge and skills: counseling and communication, genetics and genomics, medical knowledge, and genetic counseling healthcare professional skills and knowledge that we propose should be included in the GC curriculum for countries where GCs are new or emerging. We also propose 11 additional “Tier 2” topics that could be considered depending on regional needs or as countries evolve the profession.

Repeated exposure to challenging clinical situations impacts healthcare professionals' well-being. Genetic counselors assist individuals to understand and adapt to difficult medical information, which often has implications for close family members. In the cardiac setting, managing families with profound grief and trauma following sudden cardiac death can be difficult, with potential for burnout and compassion fatigue. The aim of this study was to explore the impact of cardiovascular genetic counseling practice on genetic counselor well-being and describe self-care practices. Participants were recruited through the Australasian Society of Genetic Counselors. Semi-structured interviews explored challenges in cardiovascular genetic counseling practice, supervision, and self-care. Interview transcripts were analyzed using reflexive thematic analysis. Self-reported demographics, psychological well-being, and burnout measures were used. Eighteen genetic counselors participated. Median interview length was 54 min (range 40–74). All participants were female and 83% of European ethnicity. Few reported mild or moderate depression symptoms (17%), mild or moderate anxiety symptoms (22%), and none (0%) had scores indicating stress. Three (17%) had scores indicating burnout. Reflexive thematic analysis generated three themes: (1) cardiovascular genetic counseling is different, not harder or easier; (2) workplace pressures affect well-being; (3) a self-care “tool kit” is necessary and supervision is a key component. Genetic counseling practice and workload can affect well-being. A genetic counselor self-care ‘tool kit’ that includes supervision helps maintain well-being.

Cell-free DNA screening (cfDNA), also referred to as noninvasive prenatal screening (NIPS), is utilized to screen for fetal chromosomal aneuploidies during pregnancy, including sex chromosome aneuploidies (SCAs). All patients within our center are offered diagnostic testing following a positive cfDNA for an SCA, but not all patients pursue this testing. This retrospective chart review aims to improve understanding of how often patients undergo confirmatory diagnostic testing when cfDNA is positive or inconclusive for an SCA and the pregnancy outcomes, including pregnancy termination and live birth rates. We also describe the outcomes of cases where patients had a normal cfDNA result; however, the cfDNA-predicted fetal sex is discrepant from the ultrasound-predicted fetal sex. The study found that 56 patients had a positive or inconclusive cfDNA for SCA, and 36/56 (64.3%) pursued confirmatory testing either via prenatal (19 patients) or postnatal (17 patients) diagnostic testing. For the cases where confirmatory diagnostic information was available, an SCA was confirmed in 16/36 (44.4%). A birthing parent SCA was discovered to be the likely cause of a positive cfDNA in two cases. The positive predictive value (PPV) of cfDNA was 41.7% for all SCAs, 27.8% for Turner syndrome, 50.0% for triple X syndrome, 100% for Klinefelter syndrome, 100% for Jacobs syndrome, and 0% for inconclusive results. Nine patients had a negative cfDNA; however, the cfDNA-predicted fetal chromosomal sex was discrepant from the fetal phenotypic sex predicted by ultrasound. In 3/9 cases, this led to a fetal ascertainment of a difference of sex development (DSD), which would not have been possible without the cfDNA result.

This cross-sectional study evaluated the knowledge and understanding of basic genetic concepts, as well as the acceptance of screening and preventive measures, among 100 adult patients and/or parents of children with primary congenital glaucoma (PCG) at King Khalid Eye Specialist Hospital. The study population included 36 males and 64 females. Following genetic counseling sessions for participants who had received genetic test results, an assessment was conducted using structured telephone interviews. Parents and adult patients generally demonstrated an understanding of autosomal recessive conditions: 93% recognized the increased genetic risk associated with consanguinity, and 87% were aware that an unaffected individual may be a carrier of the mutation. However, approximately one-third still had difficulty understanding or recalling recurrence risks. There was moderate-to-high motivation among participants to engage in preventive actions. While 61% supported prenatal genetic screening (PGS), 78% expressed willingness to use preimplantation genetic diagnosis (PGD) to avoid having an affected child; reinforcing the need to fast-track a congenital glaucoma prevention program. Such an initiative would facilitate the identification of carriers prior to marriage, enabling informed decision-making regarding pregnancy management.

The 2022 Supreme Court of the United States' decision in Dobbs v. Jackson Women's Health Organization eliminated federal abortion protections, returning abortion regulation to the states. However, in many states, abortion was already heavily restricted prior to this decision. This study aimed to assess the impact of dynamic restrictive legislation passed from 2020 to 2024 on the prenatal genetic counseling process and to describe similarities and differences between state policy environments by focusing on a group of neighboring states with different legislation. Twenty-two genetic counselors practicing in Ohio, Kentucky, and Indiana participated in focus groups (n = 6) and one individual interview. The research team conducted reflexive thematic analysis of qualitative data. We found that participants' perspectives on the effects of legislation varied depending on state abortion policy, patient population served, and institutional resources and directives under which they worked. Most participants expressed changes to the way they document patient visits, approach counseling appointments with patients, and provide patients with resources in lieu of referrals to abortion care. Additionally, many participants expressed feeling more motivation and less burnout in the wake of restrictive legislation—a change from previous study findings. This study provides insights into the ways in which federal case law and state regulations on abortion have impacted genetic counselors' approaches to healthcare practices, documentation, and referrals to abortion care in three states that have experienced dynamic abortion regulatory environments since 2020. Findings may be useful for guiding additional support from professional societies, healthcare institutions, and training programs.

Newborn screening (NBS) for Fabry disease (FD) is an effective way to identify individuals with FD before the onset of symptoms, enabling early therapeutic treatment. The classic form of FD typically begins in early childhood or later, but the late-onset form often develops in adulthood. However, FD-NBS identifies positive cases regardless of the expected timing of symptom onset. Consequently, concerns have been raised about prolonged uncertainty, medicalization, and caregivers' hypervigilance throughout the asymptomatic period. These issues are particularly salient for mothers, who are often heterozygous carriers and primary caregivers. Despite the growing implementation of FD-NBS in some countries, the perspectives of parents, especially mothers, have not been adequately explored. This study explores the experiences, emotions, and needs of five mothers whose children were diagnosed with FD through NBS, aiming to uncover the psychological impact and support required during the asymptomatic period. Semistructured interviews were conducted and analyzed using the KJ (Kawakita Jiro) method, a kind of bottom-up qualitative approach. The findings revealed that mothers experienced a psychological burden related to monitoring for disease onset. However, this burden was reduced by several factors, including an understanding of the timing of onset, the attending physician's opinions, the passage of time, and personalized coping strategies. Needs were identified for support in understanding the disease, as well as for spaces that facilitate empathy and information exchange. Opinions regarding FD-NBS were generally positive; however, negative feelings were also expressed, including views that they did not have to discover their child's FD through NBS. These findings suggest that understanding the experiences of mothers of asymptomatic children and providing support, such as genetic counseling and peer support, could enhance the effectiveness of FD-NBS.

With advances in next-generation sequencing technologies, individuals can seek genetic risk information for multiple conditions. However, feasibility and communication challenges could arise if offering multiple genetic tests simultaneously, such as cancer predisposition testing and carrier screening for pregnancy planning. Genetic screening introduces uncertainty from probabilistic results, ambiguous gene-disease associations, and complex variant interpretation, intertwining with psychosocial concerns impacting decision-making and emotional well-being. This study utilized coding reliability thematic analysis with both a deductive and inductive approach using the uncertainty tolerance model as a framework to explore how reproductive-age women perceive and respond to uncertainty in the context of genetic screening. Through in-depth interviews with 20 women recruited from obstetrics/gynecology clinics, the study revealed cognitive, emotional, and behavioral responses to uncertainty. Participants lacked familiarity with genetic screening but expressed interest in learning more. Positive cognitive responses were associated with desires for proactive health management, while negative responses often stemmed from concerns about test accuracy and potential side effects. Emotional responses ranged from hope and excitement to fear and anxiety, shaping information-seeking behaviors. The study underscores the importance of tailored patient education and communication strategies in genetic counseling to address uncertainty, support informed choice, and alleviate distress. The findings offer insights for improving genetic counseling practices and enhancing patient-centered care.

Standardized patient (SP) sessions allow students to practice cultural humility and gain confidence in providing care for diverse patient populations. A prebrief (Pb) occurs before participation in the SP session and involves three steps: planning, briefing, and facilitating. Prebriefing is effective in integrating cultural humility in healthcare education fields, such as nursing. Similar data are not yet available for the genetic counseling field. This article describes one genetic counseling program's experience piloting the use of a Pb before a genetic counseling SP session centered around cultural humility. Thirty-five learners from two different cohorts of the University of Pennsylvania Master of Science in Genetic Counseling Program participated in this SP session with a Pb and were invited to participate in the study. Learner skill use and cultural humility were assessed, and feedback on the Pb was collected. Descriptive statistics were used to analyze the data. The increase in learner counseling skill use and scores on Foronda's Cultural Humility Scale are outlined. Also discussed are logistics around this pilot's creation, implementation, and future directions. It was concluded that a Pb promotes discussion and reflection before the SP session and can aid in genetic counseling students' education, cultural humility, and interpersonal skill use.