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.

The therapeutic relationship is a key component of successful genetic counseling. In psychotherapy, a strong therapeutic relationship can improve patient health outcomes and a poor relationship can worsen psychological functioning. Investigation of the therapeutic relationship in genetic counseling has shown evidence for a similar pattern. Reliable measurement of the therapeutic relationship is necessary for consistency across studies in the genetic counseling context. One measure that has been adapted for use in genetic counseling is the Working Alliance Inventory (WAI). However, there have been no studies of the factor structure or item-level method bias analyses for the genetic counseling-adapted version of the WAI. The goal of this study was to test the factor structure of the WAI observer version (WAI-O) bond subscale and assess method bias in a genetic counseling context. We hypothesized that differences in factor structures would exist for items that were positively (n = 9) versus negatively (n = 3) worded (reverse coded). Secondary data analysis was performed on two data sets that utilized the WAI-O in genetic counseling contexts. Data set 1 used simulated genetic counseling sessions that were judged by analog clients recruited through crowdsourcing platforms (N = 861). Data set 2 was conducted with genetic counseling clients, and sessions were evaluated by a research team (N = 120). Principal axis factor analysis with oblique oblimin rotation supported a two-factor solution for the WAI-O bond subscale across data sets. Items factored based on wording, with the positively worded items loading together and the negatively worded items loading on the second factor. Confirmatory factor analyses supported the removal of all negatively worded items from the instrument across data sets. Results suggest that the negatively worded items on the WAI-O may be capturing a construct inconsistent with the positively worded items and support rewording and/or excluding them from use for a more reliable measure of the therapeutic bond.

Research shows genetic counselors generally have pro-White implicit biases-both prejudice and stereotyping. Cultural competency training aims to foster equitable beliefs, behaviors, and attitudes in cross-cultural genetic counseling sessions, including those that are racially discordant (genetic counselors and patients are from different racial backgrounds). Therefore, cultural competency training has the potential to mitigate bias and reduce disparities. Here, we report the prevalence of cultural competency training among genetic counselors and associations between recency of training and counselors\' racial biases. We conducted an online survey of genetic counselors and trainees in fall 2021. The survey assessed four types of bias (implicit/explicit prejudice and implicit/explicit stereotyping), time since last cultural competency training, time since last communication skills training, and frequency of clinic sessions with Black patients. Multiple linear regressions modeled associations between cultural competency training and different types of bias, adjusting for communication skills training, frequency of encounters with Black patients, and counselor race (White vs. non-White). Two hundred fifteen participants (107 genetic counselors and 108 trainees) responded, and 205 reported whether they had prior cultural competency training. Of these, 187 (91%) reported ever having cultural competency training, most (53%) of participants who had training had it within 6 months prior to survey completion. We found no clear pattern of associations between cultural competency training and racial biases (implicit or explicit) in adjusted analyses. Participants who had cultural competency training four or more years prior demonstrated less negative implicit stereotyping toward Black individuals compared with those having more recent training; but no statistically significant effect was found for participants who reported never having cultural competency training, compared with those having training more recently than 4 years prior. Overall, our findings do not support that cultural competency training is negatively associated with, or mitigates, Black/White racial prejudices and stereotypes against Black patients. These findings suggest more effective interventions are needed to reduce racial biases.

Genetic counseling is a fast-growing profession worldwide, with genetic counselors taking on increasingly comprehensive and autonomous roles in the healthcare sector. However, the absence of appropriate legal frameworks could potentially create risks of harm to the public. Legal recognition serves to protect the public from risk of harm by regulating the safe and competent practice of healthcare professionals. Genetic counseling is not legally recognized in most world jurisdictions. Examination of the legal status of genetic counseling in different jurisdictions and whether existing legal mechanisms are adequate to address potential risks of harm is therefore timely. This paper examines the different roles of genetic counselors in the Canadian province of Quebec and the state of Qatar, the authors\' respective jurisdictions. It considers the types of harms that may be created where appropriate legal mechanisms are lacking, considering the socio-political and legal differences between the two jurisdictions. Moreover, it examines the legal status of genetic counseling in Quebec and Qatar to determine whether these statuses appropriately address the identified risks of harm. The authors argue that existing legal frameworks are inadequate to address these risks and recommend that additional regulatory mechanisms be implemented to properly protect the public from risks of harm.

There is currently a gap in the literature regarding education by and for genetic counseling (GC) students and genetic counselors. Since little is written about current strategies used in GC graduate programs, we conducted a qualitative semi-structured interview study of North American GC program directors to learn about their educational goals and practices. We recruited 25 program directors from the United States and Canada through the Association of Genetic Counseling Program Directors for interviews using a video conferencing platform. Interviews were recorded and transcribed, followed by content analysis to analyze education frameworks; processes of program planning and development; approaches and strategies for teaching and assessing GC core knowledge and skills; and systemic factors that influence GC education. We emphasized areas that are challenging to teach, particularly ethical, legal, and social issues (ELSI); disability issues; genomics; counseling skills; diversity, equity, inclusion, justice (DEIJ) issues; professional identity; research skills; and teaching skills. We found commonalities supported by standards and practice-based competencies and also a rich diversity of program cultures, approaches, and techniques for teaching and assessing genetic counseling skills. There was a consistent theme of integration across the program for all areas examined. A multilayered, comprehensive approach to DEIJ issues was advocated. Planned change was a logical outcome of program assessment, while unplanned change called for flexibility and creativity. The description of GC educational practices provides documentation of current approaches and strategies, guidance for new GC programs, and inspiration for continued evolution of existing GC graduate programs.

Research has shown that patient experiences and outcomes of genetic counseling are not equitable across racial categories, disadvantaging Black patients relative to White patients. One major factor contributing to such racial disparities might be genetic counselor racial bias. The present study examined the prevalence of and variation in racial bias toward Black (vs. White) Americans among genetic counselors in North America. This study extends the current literature of racial disparities in experiences and outcomes of genetic counseling by distinguishing prejudice (negative feelings or attitudes) and stereotyping (beliefs) at the implicit and explicit levels as well as by including both certified genetic counselors and genetic counseling trainees. Two-hundred and fifteen genetic counselors (107 genetic counselors Board-certified by the American Board of Genetic Counseling, 108 genetic counseling trainees from Accreditation Council for Genetic Counseling accredited programs) completed four measures in a random order: the Race Implicit Association Test (IAT, for implicit prejudice), feeling thermometer (for explicit prejudice), the Medical Cooperativeness IAT (for implicit stereotyping), and a self-report measure of explicit stereotypes (for explicit stereotyping). On average, genetic counselors (both certified genetic counselors and genetic counseling trainees) were slightly to moderately in favor of White Americans over Black Americans at the implicit level. They were also slightly more likely to associate \"medically cooperative\" stereotypes with White Americans more than Black Americans implicitly. In contrast, genetic counselors, on average, did not display either explicit prejudice or explicit negative stereotyping, which may reflect social desirability concerns among genetic counselors. However, genetic counselors as a group strongly endorsed stereotypes related to mistrust (mistrustful of the healthcare system, skeptical of genetic testing, mistrustful of genetic counselors) to be more true for Black (vs. White) Americans. Finally, our study revealed relatively large variability in each type of bias across genetic counselors. Future research should examine how such variability in each type of bias is associated with patient experiences and outcomes of genetic counseling.

Multi-cancer gene panels for hereditary cancer syndromes (hereditary cancer panels, HCPs) are widely available, and some laboratories have programs that limit patients\' out-of-pocket (OOP) cost share. However, little is known about practices by cancer genetic counselors for discussing and ordering an HCP and how insurance reimbursement and patient out-of-pocket share impact these practices. We conducted a survey of cancer genetic counselors based in the United States through the National Society of Genetic Counselors to assess the impact of reimbursement and patient OOP share on ordering of an HCP and hereditary cancer genetic counseling. Data analyses were conducted using chi-square and t tests. We received 135 responses (16% response rate). We found that the vast majority of respondents (94%, 127/135) ordered an HCP for patients rather than single-gene tests to assess hereditary cancer predisposition. Two-thirds of respondents reported that their institution had no protocol related to discussing HCPs with patients. Most respondents (84%, 114/135) indicated clinical indications and patients\' requests as important in selecting and ordering HCPs, while 42%, 57/135, considered reimbursement and patient OOP share factors important. We found statistically significant differences in reporting of insurance as a frequently used payment method for HCPs and in-person genetic counseling (84% versus 59%, respectively, p < 0.0001). Perceived patient willingness to pay more than $100 was significantly higher for HCPs than for genetic counseling(41% versus 22%, respectively, p < 0.01). In sum, genetic counselors\' widespread selection and ordering of HCPs is driven more by clinical indications and patient preferences than payment considerations. Respondents perceived that testing is more often reimbursed by insurance than genetic counseling, and patients are more willing to pay for an HCP than for genetic counseling. Policy efforts should address this incongruence in reimbursement and patient OOP share. Patient-centered communication should educate patients on the benefit of genetic counseling.

BACKGROUND: Familial hypercholesterolemia, a prevalent genetic disorder, remains significantly underdiagnosed in the United States. Cascade testing, wherein individuals diagnosed with familial hypercholesterolemia- probands-contact their family members to inform them of their risk for familial hypercholesterolemia, has low uptake in the United States. Digital tools are needed to facilitate communication between familial hypercholesterolemia probands and their family members and to promote sharing of familial hypercholesterolemia-related risk information.
OBJECTIVE: We aimed to create and evaluate a web-based tool designed to enhance familial communication and promote cascade testing for familial hypercholesterolemia.
METHODS: A hybrid type 1 implementation science framework and a user-centered design process were used to develop an interactive web-based tool-FH Family Share-that enables familial hypercholesterolemia probands to communicate information about their familial hypercholesterolemia diagnosis with at-risk relatives. Probands can also use the tool to draw a family pedigree and learn more about familial hypercholesterolemia through education modules and curated knowledge resources. Usability guidelines and standards were taken into account during the design and development of the tool. The initial prototype underwent a cognitive walkthrough, which was followed by usability testing with key stakeholders including genetic counselors and patients with familial hypercholesterolemia. Participants navigated the prototype using the think-aloud technique, and their feedback was used to refine features of the tool.
RESULTS: Key themes that emerged from the cognitive walkthrough were design, format, navigation, terminology, instructions, and learnability. Expert feedback from the cognitive walkthrough resulted in a rebuild of the web-based tool to align it with institutional standards. Usability testing with genetic counselors and patients with familial hypercholesterolemia provided insights on user experience, satisfaction and interface design and highlighted specific modifications that were made to refine the features of FH Family Share. Genetic counselors and patients with familial hypercholesterolemia suggested inclusion of the following features in the web-based tool: (1) a letter-to-family-member email template, (2) education modules, and (3) knowledge resources. Surveys revealed that 6 of 9 (67%) genetic counselors found information within FH Family Share very easy to find, and 5 of 9 (56%) genetic counselors found information very easy to understand; 5 of 9 (56%) patients found information very easy to find within the website, and 7 of 9 (78%) patients found information very easy to understand. All genetic counselors and patients indicated that FH Family Share was a resource worth returning to.
CONCLUSIONS: FH Family Share facilitates communication between probands and their relatives. Once informed, at-risk family members have the option to seek testing and treatment for familial hypercholesterolemia.

The COVID-19 pandemic poses a significant challenge to healthcare professionals and health systems around the world, most notably the disruption of its service delivery. The typical work setting for most genetic counselors (GCs) is in a clinic or hospital. However, during the COVID-19 pandemic, to help prevent the further spread of the virus, clinics and hospitals have restricted non-urgent in-person delivery of healthcare services, including genetic counseling. Patients\' access to genetic counseling services has thus been limited, which prompted GCs in the country to utilize an alternative way to provide counseling through telegenetics. With the expansion of genetic services in the country, including the full implementation of expanded newborn screening, there is an increasing demand for genetic counseling and a growing need for telegenetics.

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.