OBJECTIVE: This article outlines a scalable system developed by the All of Us Research Program\'s Genetic Counseling Resource to vet a large database of healthcare resources for supporting participants with health-related DNA results.
METHODS: After a literature review of established evaluation frameworks for health resources, we created SONAR, a 10-item framework and grading scale for health-related participant-facing resources. SONAR was used to review clinical resources that could be shared with participants during genetic counseling.
RESULTS: Application of SONAR shortened resource approval time from 7 days to 1 day. About 256 resources were approved and 8 rejected through SONAR review. Most approved resources were relevant to participants nationwide (60.0%). The most common resource types were related to support groups (20%), cancer care (30.6%), and general educational resources (12.4%). All of Us genetic counselors provided 1161 approved resources during 3005 (38.6%) consults, mainly to local genetic counselors (29.9%), support groups (21.9%), and educational resources (21.0%).
CONCLUSIONS: SONAR\'s systematic method simplifies resource vetting for healthcare providers, easing the burden of identifying and evaluating credible resources. Compiling these resources into a user-friendly database allows providers to share these resources efficiently, better equipping participants to complete follow up actions from health-related DNA results.
CONCLUSIONS: The All of Us Genetic Counseling Resource connects participants receiving health-related DNA results with relevant follow-up resources on a high-volume, national level. This has been made possible by the creation of a novel resource database and validation system.

OBJECTIVE: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs\' evolving contributions to the literature, with the goal of facilitating worldwide professional development for GCs through scholarly activities.
METHODS: Publications were cataloged by members of the Section of Genetic Counseling (Section), established at the Children\'s Hospital of Philadelphia and the University of Pennsylvania in 2014, including publication year, journal, impact factor, and author position. Data were organized using the \"My Bibliography\" tool on the National Center for Biotechnology Information website and a Research Electronic Data Capture database created to initially collect manuscripts published through 30 June 2020. A subsequent survey captured publications through 5 February 2024.
RESULTS: An amount of 52 of 120 (43%) GCs shared their curriculum vitae/papers. 992 unique publications were identified from 1986 to 2024. Since 2013, no less than 32 papers were published annually by Section members and no less than 10 GCs contributed to publications yearly. Impact factors typically averaged >5.0 per year. Areas of foci diversified considerably since 2015.
CONCLUSIONS: Here, we establish that GCs indeed contribute to scholarly work as evidenced by the number of publications alone. The establishment of an academic home may have contributed, given publications increased concurrent to launching the Section, providing a model for organizing GCs at institutions nationally and internationally. Highlighting such achievements will foster the expansion of GC roles in the era of precision genomic medicine and therapy. Considering ways to support GCs towards expanding these activities is equally important.

There are 10 gene therapies (GTs) for hereditary conditions that are currently approved by the Food and Drug Administration (FDA). While prior research demonstrates that the majority of healthcare providers lack knowledge regarding GTs, this has not been explored within the genetic counseling profession. The authors hypothesize that the availability of GTs impacts the genetic counseling profession and that there is variable awareness on this topic among genetic counselors (GCs). We conducted a survey to assess GCs\' familiarity with, comfort with, and frequency of discussing FDA-approved GTs at the time of the survey, as well as GCs\' perceived impact of and educational experiences related to GT. The survey was distributed through listservs and word of mouth from January through March 2021. One hundred of the 109 responses met eligibility criteria. Respondents were more familiar with onasemnogene abeparvovec-xioi (ZOLGENSMA; Novartis Gene Therapies, Inc., Durham, NC, USA) than voretigene neparvovec-rzyl (LUXTURNA; Spark Therapeutics, Inc., Philadelphia, PA, USA; p < 0.001). Familiarity with, comfort with, and frequency of discussing both GTs varied by specialty but not by years of experience. Fifty-nine percent of respondents (58/98) reported that GTs impact their work, with differences by specialty but not by years of experience. The majority of respondents (93%; 90/97) felt that GCs should be comfortable discussing GTs with patients, and most respondents (83%; 79/95) were interested in additional GT training. Only 38% of respondents (36/95) recalled GT being included in their genetic counseling training program\'s curriculum, which may be skewed by recent growth of this field. Our results suggest that GCs feel that GTs impact their practice, have discrepant awareness and comfort in this area, and desire additional training on this topic. Further investigation into the actual impact and models for addressing training is warranted and will be critical as the number of approved GTs increases.

Advances in medical genetics have led to a significant increase in demand for genetic services and expertise across almost all medical specialties. Genetic counselors (GCs) in Canada play key roles in genetic services both within and outside of the Genetics Clinic, while not being regulated or legally recognized as healthcare professionals (HCPs) in most provinces. Understanding whether GCs outside of the \"traditional\" Genetics Clinic influence patient care, their level of professional autonomy and supervisory structure is, therefore, important. In this study, we explore the current landscape of GC practice outside of the Genetics Clinic by describing positions, determining the professional scope of practice, as defined by the Canadian Association of Genetic Counselors (CAGC) and Canadian Board of Genetic Counseling (CBGC) core competencies, and by elucidating associated ethico-legal implications. An online survey was developed and distributed to GCs working with patient-related data in Canada in positions outside of the Genetics Clinic through the CAGC ListServ and accessed between March 5 and April 9, 2021. Thirty GCs were included in the study, with 16/30 in public healthcare system positions. Most respondents held roles with direct (11/30) and indirect (14/30) impact on patient care and management, and the majority reported performing their primary roles with minimal supervision (56%) or complete independence (36%). Most roles (22/25) elicited by respondents were considered to be within the GC scope of practice, except for administrative tasks and special projects. GCs were the only genetics-trained professional(s) in 8/30 of respondents\' workplaces. The results of the current study support the value of GCs translatable skillset in positions beyond the Genetics Clinic, and outline ethico-legal implications for GCs, regulated HCPs, patients, and health institutions in the absence of legal recognition, including medical-legal liability and title protection. This study provides evidence in support of regulation of GCs as HCPs.

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 LGBTQIA+ community faces considerable health disparities. Developing and integrating LGBTQIA+ competencies into healthcare provider training programs is one way to promote inclusive high-quality care to potentially improve this community\'s health. Currently, there are no established LGBTQIA+-specific competencies for genetic counseling graduate programs (GCPs), so training across GCPs likely varies. This qualitative focus group-based study aimed to explore current topics related to genetic counseling (GC) for LGBTQIA+ patients covered in North American GCPs, their learning objectives, and LGBTQIA+-specific competencies that GC students (GCSs) should achieve by graduation. Eligible participants were program leaders at ACGC-accredited GCPs and/or faculty who taught LGBTQIA+-related content in at least one GCP over the last 5 years. A semistructured interview guide was used to conduct virtual focus groups that were recorded and transcribed. Transcripts were analyzed using reflexive thematic analysis and an inductive iterative approach that generated themes regarding what content is taught and what knowledge, attitudes, and skills GCSs should demonstrate as a result. Thirteen people participated, including nine LGBTQIA+ people. They represented 12 GCPs (22% of current GCPs) across the United States and Canada. Focus groups ran 73-90 min. Transcript analysis identified six themes, framed as learning objectives (LOs), and 24 subobjectives. These included recognizing the breadth of the LGBTQIA+ community and their lived experience with the healthcare system, demonstrating respect for and responding to patient identities to provide inclusive GC, employing strategies to mitigate social aspects that influence health care, and assessing personal biases and the impact of socialization. Participants used several teaching methods including didactic lectures, simulation, written activities, reflections, and fieldwork experiences. The six identified LOs may be a starting point for GCPs looking to develop or refine their LGBTQIA+ curricula. Competency-based education may enhance GCSs\' abilities to provide inclusive GC to the LGBTQIA+ community.

Professional identity (PI) comprises attributes, beliefs, values, motives, and experiences by which people define themselves in a professional role and evolves through socialization with others in the workplace. While there have been several studies exploring the expanding roles of genetic counselors, few have specifically addressed PI. This scoping review aimed to describe the contexts in which PI has been discussed or examined in the genetic counseling literature. Articles were searched using PubMed, Scopus, and CINAHL with a priori terms including and related to PI. Articles based in the United States or Canada and of all study designs, commentaries, and speeches were included. Date of publication was not restricted. Using social identity theory (SIT) to formulate a definition of PI, multiple reviewers applied inclusion and exclusion criteria to all titles, abstracts, and full-text articles with conflicts addressed through consensus among all reviewers. A total of 5523 titles and/or abstracts were screened, and 467 full-text articles were evaluated and categorized as (1) focusing on PI specifically, (2) containing elements of PI although focused on another topic, or (3) not related to PI. Eighty-seven (87) articles were reviewed during the extraction phase. Ultimately, 41 articles were deemed to meet the agreed upon characteristics of PI. While empirical studies of PI among genetic counselors were limited, PI is being addressed in research focused on related areas, including professional development and diversity, equity, and inclusion, as well as in personal accounts, addresses, and commentaries. Sentiments regarding PI voiced by genetic counselors align with those reported among other health professionals. Given the lack of diversity in the field and rapidly expanding opportunities for genetic counselors, there is risk of some members of the profession feeling excluded, which in turn could negatively impact the collective identity of the profession and translate into impacts on patient care. Additional research regarding the PI of genetic counselors is needed.

A self-reported Genetic Counseling Self-Efficacy Scale (GCSES) was developed in English to measure genetic counselors\' self-efficacy, a factor known to affect their job performance. This study verified the reliability and validity of the GCSES for use in Korea. The scale was translated and back-translated into Korean for cultural fit verification. Expert analysis was performed to ensure content validity. For construct validity, a confirmatory factor analysis of the six-factor structures of the GCSES and an exploratory factor analysis (EFA) of the K-GCSES were conducted. To confirm the convergent validity and discriminant validity of the items, a multitrait/multi-item matrix analysis of the relationship between items and subscales was conducted. The reliability was evaluated by examining internal consistency and test-retest reliability. A total of 62 participants were recruited from certified genetic counselors associated with the Korean Society of Medical Genetics and Genomics and from four graduate schools offering genetic counseling programs. Confirmatory factor analysis showed an inadequate fit to the original GCSES structure. Through EFA, three-factor structures were identified: \"counseling competence and psychosocial skills,\" \"genetic testing,\" and \"information gathering.\" Of the original 38 GCSES items, five were removed due to low factor loadings and small inter-item correlations. The item convergent validity and discriminant validity of the Korean version of the GCSES were established, and the correlation between the subfactors showed statistical significance (0.711-0.983). Cronbach\'s alpha was 0.985, and the intraclass correlation coefficient ranged from 0.882 to 0.897, securing reliability. The K-GCSES has a three-factor structure with acceptable reliability and sufficient validity. Differences in the factor structure between the K-GCSES and GCSES may be due to cultural factors. K-GCSES can be used as a tool to evaluate the competence of genetic counselors and genetic counseling students in Korea and to improve the quality of professionalism and education.

Increasing numbers of fertility patients use preimplantation genetic testing for monogenic conditions (PGT-M) during in vitro fertilization (IVF). While PGT-M is primarily used to avoid implanting embryos with a monogenic condition, patients can request to transfer an embryo with the monogenic condition (positive embryo transfer), especially in cases where an IVF cycle results in no unaffected embryos. Transferring embryos with known disease-causing variants raises ethical concerns. There is limited understanding about how stakeholders in the assisted reproductive technology (ART) field approach these issues. In this study, genetic counselors were sent a survey to gather insight into their views about transferring embryos with different monogenic conditions. N = 99 genetic counselors completed the survey, 22 of whom had experience with patients requesting or deciding to transfer an embryo with a monogenic condition (positive embryo transfer experience). Most participants, including those with positive embryo transfer experience, were supportive of positive embryo transfer, regardless of the genetic condition. While participating genetic counselors were largely supportive of all patient decisions, they reported increased moral uneasiness around transferring embryos with life-limiting monogenic conditions, such as Huntington\'s disease. Further investigation into the experiences of genetic counselors who have experienced positive embryo transfer requests in practice can help delineate the ethical questions that ART providers face in this context and clarify how genetic counselors can contribute to establishing guidelines in the ART field.

Since the 1990s, genetic clinics have been established in South Korea, enabling the provision of clinical genetics services. However, genetic counseling services are not widely used in the medical system. In contrast, recently, the demand for genetic counseling has increased due to the rapid development of genomic medicine. Therefore, it is important for medical geneticists and genetic counselors to collaboratively provide genetic counseling services. This study aimed to evaluate the perception and satisfaction of patients with rare genetic diseases and their families regarding genetic counseling services provided by a genetics team at the medical genetics center of a tertiary general hospital for rare genetic diseases. From April to November 2021, a survey was conducted with 203 individuals, including 111 and 92 individuals in the patient and family groups, respectively. Overall, 164 individuals (80.8%) responded that they were aware of genetic counseling services, and 135 individuals (66.5%) responded that they were aware of the role of genetic counselors. Patients and their families wanted to receive information about the following from genetic counseling: clinical manifestation and prognosis of the diagnosed disease (78.8%), treatment and management of the disease (60.6%), risk of recurrence within the family (55.7%), treatment options and alternatives for family and prenatal testing, and various support services. The score of satisfaction with genetic counseling services provided by the genetics team was 8.19 ± 1.68 out of 10. Patients with rare genetic diseases and their families were satisfied with genetic counseling services regarding their diseases, test results, and treatment options. Moreover, the patients could receive psychosocial support and referrals to other medical service providers and support services. As a genetic team approach, collaboration between medical geneticists and certified genetic counselors would be useful in providing information and in diagnosing, treating, and managing patients.