OBJECTIVE: We compared the rate of errors in genome sequencing (GS) result disclosures by genetic counselors (GC) and trained non-genetics healthcare professionals (NGHPs) in SouthSeq, a randomized trial utilizing GS in critically ill infants.
METHODS: Over 400 recorded GS result disclosures were analyzed for major and minor errors. We used Fisher\'s exact test to compare error rates between GCs and NGHPs and performed a qualitative content analysis to characterize error themes.
RESULTS: Major errors were identified in 7.5% of disclosures by NGHPs and in no disclosures by GCs. Minor errors were identified in 32.1% of disclosures by NGHPs and in 11.4% of disclosures by GCs. Although most disclosures lacked errors, NGHPs were significantly more likely to make any error than GCs for all result types (positive, negative, or uncertain). Common major error themes include omission of critical information, overstating a negative result, and overinterpreting an uncertain result. The most common minor error was failing to disclose negative secondary findings.
CONCLUSIONS: Trained NGHPs made clinically significant errors in GS result disclosures. Characterizing common errors in result disclosure can illuminate gaps in education to inform the development of future genomics training and alternative service delivery models.

The transition to graduate school is marked by stress, with academic demands and interpersonal interactions being primary concerns for genetic counseling students. For Black, Indigenous, and People of Color (BIPOC) graduate students, additional stressors caused by the \"minority tax\" and microaggressions impact their sense of belonging and inclusion. This prospective longitudinal study employed a constructivist grounded theory approach to investigate the experiences of first-year BIPOC genetic counseling students as they transitioned into the first year of their graduate training. We conducted semi-structured interviews with 26 first-year genetic counseling students at three key time points during their first year and analyzed them using reflexive thematic analysis. Here, we report themes related to stressors when transitioning into the genetic counseling training environment, the role of relationships as a source of support in navigating these challenges, and the impact of cohort dynamics on the training experience. Stressors included managing academic rigor and time demands, navigating microaggressions, reactions to discussions about diversity, equity, inclusion, and justice (DEIJ), and managing mental health. Peer relationships emerge as pivotal source of support, but challenging dynamics within the cohort negatively impacted participants, highlighting the importance of fostering an inclusive training environment. Since programs have less control over the composition of each cohort with the advent of the Match system in 2018, we recommend the use of community-building and debriefing activities to strengthen healthy relationships and address problematic dynamics. We recommend that training programs be proactive in creating mentoring relationships between faculty and students rather than waiting until students ask for help. Ultimately, we advocate for a holistic approach to genetic counseling training that maintains academic rigor but also prioritizes the creation of supportive, inclusive, and culturally sensitive learning environments for all students.

Despite diversity initiatives, the genetic counseling profession continues to exhibit limited racial and ethnic diversity, with relatively stagnant representation of Black, Indigenous, and People of Color (BIPOC) individuals. Prior research has found that BIPOC high school and college students are less likely to be aware of genetic counseling and learn about it later than their white peers. Financial barriers and familial discouragement based on a preference for medical school may disproportionately impact BIPOC applicants. Here, we report the first set of results from a longitudinal constructivist grounded theory study exploring the training experiences of BIPOC genetic counseling students. Through reflexive thematic analysis of semi-structured interviews conducted with 26 first-year BIPOC genetic counseling students, we identified five themes pertaining to participants\' paths to enrolling in a genetic counseling program: (1) Deciding to pursue genetic counseling, (2) Family\'s reaction to genetic counseling, (3) Deciding where to submit applications, (4) Barriers during admissions, and (5) Ranking programs. Participants discovered genetic counseling later in their academic journey, often necessitating gap years to complete admissions requirements. Limited guidance from advisors was commonly cited as a barrier by first-generation college students. Family support seems to be a key factor in participants\' successful pursuit of genetic counseling, but participants described challenges explaining the career, particularly to parents who did not speak English. In addition, some participants encountered resistance about changing prior plans to go to medical school. Finally, while participants prioritized cost and location in their initial decision about where to submit applications, their ranking of programs was heavily influenced by experiences during interviews, where they favored conversational interviews and evaluated if they would \"fit in\" at the program. These findings underscore the need for proactive measures, such as early exposure initiatives, mentorship programs, and resources to facilitate family support, to promote diversity in genetic counseling.

The precision medicine era has seen increased utilization of artificial intelligence (AI) in the field of genetics. We sought to explore the ways that genetic counselors (GCs) currently use the publicly accessible AI tool Chat Generative Pre-trained Transformer (ChatGPT) in their work.
GCs in North America were surveyed about how ChatGPT is used in different aspects of their work. Descriptive statistics were reported through frequencies and means.
Of 118 GCs who completed the survey, 33.8% (40) reported using ChatGPT in their work; 47.5% (19) use it in clinical practice, 35% (14) use it in education, and 32.5% (13) use it in research. Most GCs (62.7%; 74) felt that it saves time on administrative tasks but the majority (82.2%; 97) felt that a paramount challenge was the risk of obtaining incorrect information. The majority of GCs not using ChatGPT (58.9%; 46) felt it was not necessary for their work.
A considerable number of GCs in the field are using ChatGPT in different ways, but it is primarily helpful with tasks that involve writing. It has potential to streamline workflow issues encountered in clinical genetics, but practitioners need to be informed and uniformly trained about its limitations.

With genetic counselor licensure now available in 32 states, the number of laboratory genetic counselors (LGCs) who are required to be licensed in multiple states has risen substantially. Although previous studies have documented the complexity of the multistate licensing (MSL) process, there has been little research on the experiences of LGCs applying for and maintaining licensure. The purpose of this study was to identify perceived barriers, recommendations, and resources for LGCs pursuing MSL. A 15-item mixed-methods, anonymous questionnaire was used to survey genetic counselors currently or formerly employed by genetic testing laboratories. Responses were analyzed with a combination of descriptive statistics and inductive thematic analysis. Of the 150 eligible participants who completed the survey, the majority worked at a commercial, non-academic laboratory (84%, n = 126), had 1-4 years of laboratory genetic counseling experience (54%, n = 81), held non-patient-facing roles (65%, n = 97), and were required by their employer to hold licensure in at least one state (73%, n = 110). Most participants (86%, n = 129) felt there were barriers to MSL for LGCs, with three emergent themes: (1) resource burden, (2) complexity, and (3) legislative ambiguity. Participants described the current MSL process as tedious, cumbersome, confusing, overwhelming, and redundant. Several shared that the current licensing system undermines the intent to improve the status of the profession and actually negatively impacts patient care. Recommendations to improve MSL included overall process enhancements, like transitioning to online systems and a single central information repository for licensees, increased professional advocacy, and investing in collaborative pathways to licensure such as interstate compacts. Participants found national genetic counseling organizations, state-based genetic counseling organizations, and genetic counseling colleagues to be the most helpful resources for understanding licensure law and where to apply for licensure.

While many patients with disabilities or chronic illnesses are served by genetic counselors, little effort has been made to promote the inclusion of individuals with disabilities and chronic illnesses as professionals in the genetic counseling field. Genetic counselors with disabilities and chronic illnesses have reported insufficient support from their colleagues throughout all stages of their professional journeys, but there is a lack of research exploring these challenges. To gain an understanding of the experiences of this community during graduate training, we conducted semi-structured interviews with 13 recent graduates of genetic counseling programs who identify as having a disability or chronic illness. Questions explored various aspects of the graduate school experience including challenges, strengths, relationships, disclosure, and accommodations. Qualitative thematic analysis of interview transcripts resulted in six themes: (1) decisions around disclosure are complex, (2) interactions with others contribute to feeling misunderstood, (3) the high-performance culture in graduate programs makes it challenging to meet personal needs, (4) interpersonal relationships provide support, (5) the accommodation process is often disappointing, and (6) lived experiences are valuable to patients. This study reveals opportunities to better support genetic counseling students with disabilities and chronic illnesses through strengthening inclusion efforts, shifting away from ableist ideologies, and promoting more flexible training options.

Frameworks have been developed to help conceptualize clinical genetic counseling (GC), and observational studies have helped understand the process and content of GC sessions. However, additional research is needed to identify GC skills (behaviors or strategies) that practicing genetic counselors report consciously using to meet certain GC goals and determine what common terminology, if any, is being used to describe the various skills. Nineteen practicing genetic counselors in prenatal, pediatric, or cancer specialties were interviewed to elicit how they achieve session goals. Interview recordings were transcribed, coded thematically, and categorized using process categories from the communication strategy domain of the Framework for Outcomes in Clinical Communication Services (FOCUS). Reported skills largely fit within FOCUS, though findings prompted minor modifications of several FOCUS process categories and consolidation of the categories from 13 into 10. Although genetic counselor respondents reported a broad range of strategies and behaviors, they rarely had terms for skills they described. Results reveal concrete examples of GC skills, provide evidence for refinement of FOCUS, and highlight the need for establishing common terminology to describe these skills.

Moral distress is the phenomenon whereby healthcare providers experience the inability to take action or act in morally appropriate ways when encountering a morally compromising situation. The correlation of moral distress to burnout and resignation in nursing and other healthcare fields has led to increasing attention and concern among healthcare professionals to identify the sources of moral distress, as well as find ways to alleviate it. An online mix-method survey was sent to NSGC members to gain information on (1) sources of moral distress, (2) emotions involved, (3) coping strategies, and (4) suggestions to alleviate it. The ProQOL 5 scale was included to measure genetic counselor compassion satisfaction, burnout, and secondary traumatic stress. Two hundred and thirteen genetic counselors from North America completed the survey. Forty-eight percent of respondents experienced moral distress and five sources were identified. The sources were situations involving other providers, family members, professional responsibility, personal beliefs, and access. Those more likely to experience moral distress worked in a prenatal setting, were over the age of 50, and worked for more than 21 years. Genetic counselors were more likely to talk to a co-worker for support, and seek social support, address the source of the problem, and sustain self through working with patients as coping strategies. Most genetic counselors recommended talking to another genetic counselor to alleviate moral distress. Moral distress did not correlate with genetic counselor burnout, but did correlate with higher levels of secondary traumatic stress (p < 0.01). Thirty-two percent of genetic counselors considered leaving their specialty, and 23% considered leaving their profession based on their experience(s) with moral distress. Our study establishes the existence of moral distress in the genetic counseling field and supports the need for coping strategies and recommendations in order to alleviate future genetic counselor moral distress.

For the past two decades, the guidelines put forth by the American College of Medical Genetics and Genomics (ACMG) detailing providers\' clinical responsibility to recontact patients have remained mostly unchanged, despite evolving variant interpretation practices which have yielded substantial rates of reclassification and amended reports. In fact, there is little information regarding genetic counselors\' roles in informing patients of reclassified variants, or the process by which these amended reports are currently being handled. In this study, we developed a survey to measure current experiences with amended variant reports and preferences for ideal management, which was completed by 96 genetic counselors from the United States and Canada. All respondents indicated they were the individuals responsible for disclosing initial positive genetic testing results and any clinically actionable reclassified variant reports, and over half (56%) received at least a few amended variant reports each year. Nearly a quarter (20/87) of respondents reported having a standard operating procedure (SOP) for managing amended reports and all were very satisfied (12/20) or satisfied (8/20) with the SOP. Of those without a protocol, 76% (51/67) would prefer to have an SOP implemented. Respondents reported a preference for (1) laboratories to send amended variant reports directly to the genetic counselor or ordering physician through email or an online portal, and (2) notification to patients ideally occurring through a phone call. In the event that the original genetic counselor is inaccessible, respondents reported a preference for reports to be sent directly to another genetic counselor (36%) on the team or the clinic in general (27%). Information from this study provides insight into the current practices of genetic counselors as applied to amended reports and what improvements may increase the efficiency of the reporting process. Moreover, these results suggest a need for an updated statement addressing duty to recontact, specifically as it applies to amended variant reports.

Genetic counselors (GCs) are increasingly filling important positions on research study teams, but there is limited literature describing the roles of GCs in these settings. GCs on the Undiagnosed Diseases Network (UDN) study team serve in a variety of roles across the research network and provide an opportunity to better understand genetic counselor roles in research. To quantitatively characterize the tasks regularly performed and professional fulfillment derived from these tasks, two surveys were administered to UDN GCs in a stepwise fashion. Responses from the first, free-response survey elicited the scope of tasks which informed development of a second structured, multiple-select survey. In survey 2, respondents were asked to select which roles they performed. Across 19 respondents, roles in survey 2 received a total of 947 selections averaging approximately 10 selections per role. When asked to indicate what roles they performed, respondent selected a mean of 50 roles (range 22-70). Survey 2 data were analyzed via thematic coding of responses and hierarchical cluster analysis to identify patterns in responses. From the thematic analysis, 20 non-overlapping codes emerged in seven categories: clinical interaction and care, communication, curation, leadership, participant management, research, and team management. Three themes emerged from the categories that represented the roles of GCs in the UDN: clinical care, collaboration, and curation. Cluster analyses showed that responses were more similar among individuals at the same institution than between institutions. This study highlights the ways GCs apply their unique skill set in the context of a clinical translational research network. Additionally, findings from this study reinforce the wide applicability of core skills that are part of genetic counseling training. Clinical literacy, genomics expertise and analysis, interpersonal, psychosocial and counseling skills, education, professional practice skills, and an understanding of research processes make genetic counselors well suited for such roles and poised to positively impact research experiences and outcomes for participants.