Satisfaction with mode of delivery of genomic sequencing results in a diverse national sample of research participants through the Clinical Sequencing Evidence-Generating Research Consortium.

PURPOSE: Research that includes diverse patient populations is necessary to optimize implementation of telehealth. METHODS: As part of a Clinical Sequencing Evidence-Generating Research Consortium cross-site study, we assessed satisfaction with mode of return of results (RoR) delivery across a diverse sample of participants receiving genetic testing results in person vs telemedicine (TM). RESULTS: Ninety-eight percent of participants were satisfied with their mode of results delivery. Participants receiving results by TM were more likely to report a preference for receiving results in a different way and challenges with providers noticing difficulties with understanding. More than 90% reported satisfaction across all items measuring support and interaction during sessions. Participants self-reporting Hispanic/Latino or Black/African American race and ethnicity compared with White/European American, fewer years of education, and having lower health literacy were more likely to report challenges with understanding the information or asking questions. Participants who were White/European American, had more years of education, and higher health literacy reported higher communication scores, reflecting more positive evaluations of the communication experience. CONCLUSION: TM is an acceptable mode of return of results delivery across diverse settings and populations. Research optimizing approaches for underrepresented populations, populations with lower levels of education and health literacy, and multilingual populations is necessary.

Refining the activities of genetic assistants: Development of task statements applicable across practice settings.

Although genetic (counseling) assistants (GAs) have been implemented in many institutions, their roles vary widely. Therefore, this study aimed to refine our knowledge of GA tasks across work settings and specialties. Tasks performed by GAs were extracted from peer-reviewed articles, publicly available theses, and job postings, then analyzed using directed content analysis. Briefly, task statements were coded using broad categories from previous studies, with new categories added as emergent. Coded tasks were combined and condensed to produce a final task list, which was reviewed by subject matter experts. Sixty-one task statements were extracted from previous studies and 335 task statements were extracted from job descriptions. Directed content analysis produced a list of 40 unique tasks under 10 categories (8 from original research and 2 from the data). This study design resulted in a refined list of GA tasks that may be applicable across work settings and specialties, which is an essential step towards defining the scope of GA work. Beyond the human resource applications of the refined task list, this work may also benefit genetics services by reducing role overlap, improving efficiencies, improving employee satisfaction, and informing the development/improvement of training and other educational materials.

Comparing PrEP initiation rates by service delivery models among high risk adolescent boys and young men in KwaZulu-Natal, South Africa: findings from a population-based prospective study.

INTRODUCTION: Pre-exposure prophylaxis (PrEP) is an HIV prevention strategy that can reduce the risk of HIV acquisition by more than 90% if taken consistently. Although South Africa has been implementing PrEP since 2016, initially for selected population groups before expanding access to more people, there is a dearth of research focused on PrEP among adolescent boys and young men (ABYM), despite them experiencing high rates of HIV infection. To address this gap, we compared PrEP initiation rates by service delivery points (SDPs) among ABYM in KwaZulu-Natal, South Africa. METHODS: We conducted a population-based prospective study in 22 SDPs from July 2021 to July 2022 in KwaZulu-Natal, South Africa. Sexually active ABYM aged 15-35 years who tested HIV negative were recruited at purposively selected PrEP SDPs (i.e., healthcare facilities, secondary schools and Technical Vocational Education and Training (TVET) colleges, and community-based youth zones). We collected baseline quantitative data from each participant using self-administered electronic questionnaires built into REDCap, including demographic information such as age, sex, employment status and level of education, as well as PrEP initiation outcomes. We extracted data from REDCap and exported it to Stata version 17.0 for analysis, and then eliminated discrepancies and removed duplicates. We described baseline characteristics using summary and descriptive statistics (median, interquartile range [IQR] and proportions) and reported PrEP initiation proportions overall and by SDPs. RESULTS: The study included 1104 ABYM, with a median age of 24 years (interquartile range (IQR): 21-28)). Almost all participants were black African (n = 1090, 99%), with more than half aged 15-24 years (n = 603, 55%) and 45% (n = 501) aged 25-35 years. The majority (n = 963; 87%) had attained a secondary level of education. Overall PREP initiation rate among adolescent boys and young men was low: among 1078 participants who were eligible for PrEP, 13% (n = 141) were started on PrEP. Among the participants who were initiated on PrEP, over three quarters (78%, n = 58) were initiated from high schools, compared with community-based youth zones (40%, n = 37), TVET colleges (26%, n = 16) and healthcare facilities (4%, n = 30). CONCLUSIONS: This study provided evidence suggesting that expanding PrEP services to non-traditional settings, such as high schools, TVET colleges, and community-based organizations, may have a potential to increase PrEP access among ABYM in South Africa.

Survey of patient satisfaction with genetic counseling services in Korea.

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.

Exploring perceptions of genetic counseling student-run free clinics as an innovative service delivery model to increase access to genetic counseling services.

Underrepresented groups lack access to genetics services, heightening health disparities among those who benefit from advancements in precision medicine. An innovative approach to addressing this gap in care and increasing health equity in the context of genetic counseling is student-run free clinics (SRFCs). While only one recently established SRFC for genetic counseling is reported in the literature, SRFCs have a long-standing presence in other health professional schools, such as nursing, pharmacy and physical therapy, and research supports the benefits for patients and students. This qualitative study aims to explore the perspectives of certified genetic counselors (CGCs) and genetic counseling  students (GC students) regarding SRFCs as an innovative service delivery model to increase access to genetic counseling services. Semi-structured Zoom interviews were conducted with 10 CGCs and 10 GC students across the United States. Participants were asked open-ended questions about how SRFCs could meet needs of the field, potential challenges in creating and maintaining these clinics, and anticipated outcomes. Through abductive thematic analysis of interview transcripts, three main themes were identified: (1) SRFCs can be mutually beneficial as alignment with profession goals potentially leads to positive outcomes for patients and students; (2) student scope of duties will vary depending on student ability corresponding with their training timeline and level of required supervision; and (3) successful SRFC implementation and sustainability will require thoughtful planning regarding collaboration, infrastructure support, clinic operations, visibility, and protections for vulnerable groups. Participants recognized SRFCs' potential to reduce health disparities by expanding access to genetic counseling for uninsured and underinsured populations. Implementing SRFCs could enhance the quality of GC student training, providing opportunities to apply skills and gain experience working with diverse patient populations. A key subtheme was the need to foster support from the CGC community in transitioning from a traditional supervision model. This research provides a baseline framework from which to further develop and implement SRFCs for genetic counseling.

Time tracking and comparison of genetic counseling tasks in inpatient and outpatient settings.

Genetic counselors (GCs) practice in critical care settings. Some GCs have full-time inpatient roles, while most GCs who see inpatients do so as needed or on a rotating schedule in addition to seeing patients in an outpatient setting. Few studies have tracked and compared the amount of time it takes GCs to perform tasks in the inpatient and outpatient settings. Genetic counselors were invited to participate in this study via the National Society of Genetic Counselors research listserv. Participants completed an online survey asking how their role is structured and what types of support are available to them while seeing inpatients. They also performed time tracking for 16 tasks known to be associated with inpatient and/or outpatient care via RedCap. These tasks include direct patient care, care coordination, and other tasks which encapsulate a new patient encounter from beginning to end. Forty-two inpatient encounters and 26 outpatient encounters were analyzed. The total average time spent on an inpatient consult (3 h and 38.5 min) was significantly higher than the time spent on an outpatient consult (2 h and 24.7 min; p < 0.05). Individually, genetic counselors spent significantly more time on the following tasks in an inpatient setting: direct follow-up encounters, multidisciplinary team communication, results disclosure encounters, results disclosure documentation, traveling, and waiting. Follow-up encounters, traveling, and waiting happen almost exclusively in inpatient settings. Short answer prompts regarding structure of GC role and available support revealed themes including lack of inpatient role structure, challenges with balancing between inpatient and outpatient tasks, and varied institutional support. These results promote further discussion about how to support GCs who see inpatients as these roles expand. Some suggestions include increased FTE/protected time and/or GCA support specific to the inpatient role.

Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk.

As demand for genetic cancer risk assessment (GCRA) continues to increase, so does the sense of urgency to scale up efforts to triage patients, facilitate informed consent, and order genetic testing for cancer risk. The National Society of Genetic Counselors outlines the elements of informed consent that should be addressed in a GCRA session. While this practice resource aims to improve health equity, research on how well the elements of informed consent are implemented in practice is lacking. This retrospective and prospective mixed-methods study assessed how adequately the elements of informed consent are addressed during pre-test GCRA among 307 community clinicians (CC) and 129 cancer genetic counselors (GC), and barriers they face to addressing these elements. Results revealed that more than 90% of both cohorts consistently addressed components of at least 5 of the 10 elements of informed consent during a pre-test consultation. Technical aspects and accuracy of the test and utilization of test results were the most similarly addressed elements. Notably, GCs more often review the purpose of the test and who to test, general information about the gene(s), and economic considerations whereas CCs more often review alternatives to testing. Both cohorts reported psychosocial aspects of the informed consent process as the least adequately addressed element. Time constraints and patient-related concerns were most often cited by both cohorts as barriers to optimal facilitation of informed consent. Additional barriers reported by CCs included provider lack of awareness, experience, or education, and availability of resources and institutional support. Findings from this study may contribute to the development of alternative delivery models that incorporate supplementary educational tools to enhance patient understanding about the utility of genetic testing, while helping to mitigate the barrier of time constraints. Equally important is the use of this information to develop continuing education tools for providers.

Randomized control trial comparing genetic counseling service delivery models in an underserved population.

This randomized controlled trial compares outcomes of telephone versus in-person genetic counseling service models in underserved, bilingual patient populations referred for cancer genetic counseling. Between 2022 and 2023, a two-arm (telephone vs. in-person genetic counseling) prospective, randomized controlled study with 201 participants was conducted at two county hospital cancer genetics clinics. Primary outcomes included comparison of pre- and post-genetic counseling genetics knowledge (Multi-dimensional Model of Informed Choice, MMIC), genetic counseling visit satisfaction (Genetic Counseling Satisfaction Scale, GCSS), and genetic counseling visit completion rates. Secondary outcomes included comparison of genetic testing attitudes and informed choice (MMIC), genetic counseling-specific empowerment (Genomic Outcomes Scale, GOS), and genetic testing completion and cancellation/failure rates, using linear regression models (significance ≤0.05). There were no statistically significant differences between arms in pre/post-genetic counseling MMIC knowledge and attitude, GOS or GCSS scores or genetic counseling completion. While more participants in the telephone versus in-person arm made an informed choice about testing (52.5% v. 39.0%, p = 0.0552), test completion was lower (74% v. 100%, p < 0.05) for this group. Genetic counseling completion rates and MMIC knowledge and attitude, GOS, and GCSS scores suggest telephone genetic counseling is comparable to in-person genetic counseling for underserved populations. Higher informed choice scores and significantly lower testing completion rates for telephone visits require further study.

Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice-based competencies in clinical care through remote supervision.

There are limited studies regarding the attainment of the Accreditation Council for Genetic Counseling Practice-Based Competencies by genetic counseling students who complete clinical rotations in an in-person setting versus in a remote setting that incudes telephone and/or video patient encounters. This study explored the perceptions of 17 patient-facing genetic counselors who had served as supervisors for genetic counseling students regarding student attainment of practice-based competencies in in-person compared to remote rotations. Participants were recruited through an American Board of Genetic Counseling eblast and were required to have at least 2 years of clinical experience and experience providing genetic counseling supervision for at least one in-person rotation and one remote rotation. Four focus groups were created comprising genetic counselors from various practice disciplines. Discussion focused on potential differences and similarities in supervisor perceptions of student attainment of each clinical practice-based competency, and whether there were any concerns about students being able to attain each competency in remote rotations. Overall, participants discussed that genetic counseling students' attainment of clinical competencies through remote rotations was comparable to in-person rotations; however, 15 themes were identified illustrating differences reported by participants in how they observed these skills being performed by students in in-person versus remote clinical settings. The findings of this study highlight important considerations when developing a remote rotation, as well as ways in which certain clinical skills may be further enhanced through a combination of both in-person and remote clinical experiences. A noted limitation of remote rotations is that students have less of an opportunity to interact with other providers, and so may require other opportunities for interprofessionalism and to understand their role as part of a larger organization. Further study is required to elucidate differences between telephone and video clinics, as well as potential differences pertaining to various specialty areas of practice.

Further defining the roles and impact of genetic counselors in the biotechnology and pharmaceutical industry.

As personalized medicine has gained traction, drug development models in the biotechnology and pharmaceutical industry (BPI) have increasingly sought to address medical conditions with a genetic component, creating an opportunity for genetic counselors (GCs) to fill new roles and utilize their unique training to contribute to drug development. Despite the potential for GCs in BPI, literature around the role of GCs in this industry has been limited. Our mixed methods study aimed to assess how the roles of GCs in BPI have evolved since 2016, investigate the value of and opportunity for GCs in this industry, and further characterize their motivation and job satisfaction. Participants were recruited via social media advertising, snowball sampling, and email listservs from the National Society of Genetic Counseling (NSGC), the Canadian Association of Genetic Counselors (CAGC), and the American Board of Genetic Counseling (ABGC). Survey (n = 20) and interview (n = 6) data indicates many aspects of GC roles in BPI are consistent with the 2016 study. However, there is evidence of roles becoming more varied and with increasing recognition of the value of GCs, opportunities for involvement in BPI are growing. Furthermore, combined study data found that GCs are motivated by the flexibility of BPI roles as well as the opportunity to contribute to rare disease treatment development and that they are overall satisfied with most aspects of their jobs. Interview data also found that genetic counseling training has the potential to improve clinical trial design and outcomes by making drug development more patient-centric. Finally, combined study data found that while GCs continue to utilize Accreditation Council of Genetic Counseling (ACGC) practice-based competencies (PBCs), business-related training may benefit GCs seeking to enter BPI. Together, these findings are critical for informing genetic counseling training programs, employers within BPI, and GCs interested in entering these positions.

Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions.

BACKGROUND: Lynch syndrome represents the most common hereditary cause of both colorectal and endometrial cancer. It is caused by defects in mismatch repair genes, as well as EPCAM. Universal screening of colon tumors for Lynch syndrome via microsatellite instability (MSI) and/or immunohistochemistry (IHC) can identify patients and families at risk to develop further cancers and potentially impact surveillance and treatment options. The approach to implementation of universal screening, taking ethical considerations into account, is critical to its effectiveness, with patient perspectives providing valuable insight. METHODS: Patients whose colon tumors underwent universal screening at Penn State Hershey Medical Center over a period of 2.5 years were mailed a survey on universal screening in 2017. Along with the survey, they received a recruitment letter and a summary explanation of research. The survey included both multiple choice and free-response questions that covered topics including respondent knowledge of Lynch syndrome, attitudes toward universal screening and experiences with the screening protocol as implemented. RESULTS: Sixty-six of 297 possible patients (22.2%) responded to the survey, including 13 whose screening results raised concern for Lynch syndrome. 75.8% of respondents supported universal tumor screening without informed consent. 92.4% preferred receiving screening results regardless of outcome. Respondents described benefits to screening for themselves and their families. CONCLUSIONS: While broadly supporting universal tumor screening without informed consent, respondents also wanted more information shared about the screening policy, as well as their results. These patient preferences should be one of many factors considered when implementing universal screening and can also inform practices regarding both tumor profiling and universal genetic testing, which is becoming more prevalent.

Perceptions and factors associated with the uptake of the community client-led antiretroviral therapy delivery model (CCLAD) at a large urban clinic in Uganda: a mixed methods study.

INTRODUCTION: Community Client-Led ART Delivery (CCLAD) is a community HIV care model. In this model, a group of persons living with HIV (PLHIV) in a specific location, take turns going to the HIV clinic to pick up Antiretroviral Treatment refills for members. The uptake of this model, however, remains low despite its improvements in patient retention. In this study, we explored PLHIV's perceptions of this model and identified the factors associated with its low uptake. METHODS: This was a mixed methods study based on a retrospective review of records of PLHIV and in-depth interviews. We reviewed the medical records of people receiving ART to determine their current model of ART delivery and conducted in-depth interviews with 30 participants who were eligible to be enrolled in the CCLAD model at the Mulago ISS clinic. We performed logistic regression to identify factors associated with the uptake of the CCLAD model and inductive thematic analysis to explore PLHIV's perceptions of the CCLAD model. RESULTS: A total of 776 PLHIV were sampled for the study, 545 (70.2%) of whom were female. The mean age (standard deviation) was 42 (± 9.3) years. Overall, 55 (7.1%) received ART using the CCLAD model. Compared to other ART-delivery models, CCLAD was associated with being on ART for at least eight years (AOR 3.72; 95% CI: 1.35-10.25) and having no prior missed clinic appointments (AOR 10.68; 95% CI: 3.31-34.55). Mixed perceptions were expressed about the CCLAD model. Participants interviewed appreciated CCLAD for its convenience and the opportunities it offered members to talk and support each other. Others however, expressed concerns about the process of group formation, and feeling detached from the health facility with consequences of lack of confidentiality. CONCLUSION: The current uptake of the CCLAD model is lower than the national recommended percentage of 15%. Its uptake was associated with those who had been in care for a longer period and who did not miss appointments. Despite CCLAD being perceived as convenient and as promoting support among members, several challenges were expressed. These included complexities of group formation, fear of stigma and feelings of detachment from health facilities among others. So, while CCLAD presents a promising alternative ART delivery model, more attention needs to be paid to the processes of group formation and improved patient monitoring to address the feelings of detachment from the facility and facility staff.

Patient-reported outcomes associated with reflex BRCA1/2 tumor and subsequent germline panel genetic testing for high-grade serous ovarian cancer.

Reflex genetic testing of tumor tissue is being completed to direct cancer treatment; however, the patient impact of this genetic testing model is unknown. This survey study evaluates psychological outcomes following tumor and germline genetic testing in individuals with a new diagnosis of high-grade serous ovarian cancer (HGSOC). Individuals were recruited from two hospitals in Toronto, Canada. Participants completed surveys 1 week after receiving tumor results and 1 week after receiving germline results (which included genetic counseling). Outcomes included cancer-related distress (Impact of Events Scale: IES), genetic testing-related distress (Multidimensional Impact of Cancer Risk Assessment: MICRA), and patient satisfaction. Paired t-tests were used to evaluate differences in outcomes following each genetic test result; Cohen's d was used to evaluate effect size. Subgroup analyses were undertaken according to age at diagnosis (<60 years vs. ≥60 years) and test results (any positive vs. both negative). McNemar's test assessed differences in satisfaction. Fifty-two individuals were included in the analyses. Mean IES scores were similar following disclosure of tumor and germline results (27.39 vs. 26.14; p = 0.481; d = 0.101). Compared to following tumor result disclosure, MICRA scores were significantly lower following receipt of germline results with genetic counseling (27.23 vs. 22.69; p = 0.007; d = 0.435). Decreases in MICRA scores from tumor to germline result disclosure were greater for those diagnosed <60 years or those who received only negative test results. Most individuals were satisfied/highly satisfied following tumor (85.7%) and germline (89.8%) results disclosure (p = 0.774). Reflex tumor, and subsequent germline, genetic testing is a new model of care for cancer patients. In our cohort, genetic testing-related distress decreased significantly following receipt of germline results with genetic counseling, especially for individuals diagnosed under 60 years and those receiving only negative results. Most individuals were satisfied with this model of care.

Experience with a nurse-driven genetic counseling pathway of Italian women with uninformative BRCA test result.

Several models of genetic counseling have been proposed to tackle the increasing volume of individuals requiring access to BRCA testing. Few data are available on patient experience and retention of information with nurse-driven genetic counseling. We evaluated the experience and retention of information in women with an uninformative BRCA test result and who were not considered at high risk due to their personal/family history of cancer who underwent geneticist-supervised nurse-driven genetic counseling and who received their test result by phone. Women who received an uninformative BRCA test result between May 2017 and September 2019 were administered a questionnaire exploring experience with genetic counseling and retention of information provided. Of 366 eligible women, 299 (273 breast cancer patients and 26 women without breast cancer) completed the interview. Overall, 280 women (93.6%) positively valued their experience with genetic counseling and 287 (96.0%) considered it helpful with 57.5% of them feeling reassured for themselves and their family. Information on the clinical implications of the test result was correctly retained and women acted accordingly. Overall, 252 women (87.8%) accurately reported their test result as normal/negative. Only 67 (22.4%) recognized that despite a normal BRCA test result, a low probability of a hereditary syndrome remains. Most women showed a poor ability to estimate cancer risk in BRCA mutation carriers and in the general population. Geneticist-supervised nurse-driven genetic counseling process for women with uninformative BRCA test result is associated with a positive patient experience and an adequate retention of information concerning the management of their personal and familial cancer risk. The design and implementation of nurse-driven genetic counseling models may contribute to efficient and timely access to BRCA genetic testing.

Preparedness and training of genetic counselors practicing in inpatient settings.

As rapid genomic testing technology increasingly allows for real-time answers that could alter management for acutely ill patients, opportunities for genetic counselors to work in inpatient settings will increase. However, genetic counselors' preparedness and the training provided by graduate programs to work in inpatient settings are unknown. We conducted semi-structured interviews with 13 genetic counselors who provided services in varied inpatient settings to assess genetic counselors' readiness for inpatient positions. We also surveyed members of the Association of Genetic Counseling Program Directors (AGCPD) about inpatient training practices of genetic counseling graduate programs. Genetic counselors were recruited through the National Society of Genetic Counselors (NSGC) Inpatient Special Interest Group listserv and graduate program faculty were recruited through the AGCPD listserv. Some challenges reported by genetic counselors in inpatient settings included working in a fast-paced hospital environment which necessitated focused interactions with patients; collaborating with diverse providers who may not understand the role of genetic counselors; and navigating grief experiences of families and of themselves as a provider. Although genetic counselors felt that many of their skills developed in graduate school were transferrable to the inpatient setting, those who had minimal or no inpatient exposure in graduate school often described feeling unprepared for working in the inpatient setting. The majority of AGCPD respondents (23/28) indicated their program provided some type of exposure to the inpatient setting for students, the most common (22/23) being an inpatient clinical rotation, which suggests many graduate programs are already recognizing the importance of providing inpatient training. Our findings indicate that while many skills are transferrable to inpatient positions, genetic counselors face unique challenges in inpatient settings. Our results suggest that graduate exposure to the inpatient setting and professional support of inpatient genetic counselors are beneficial to support genetic counselors' preparedness to take on inpatient positions.

Incorporating telehealth education into the genetic counseling curriculum.

As the provision of telehealth genetic counseling (THGC) services continues to expand, it is imperative that genetic counseling students gain proficiency in telehealth service delivery. To prepare students to provide THGC services, the MSGC program at the University of Pennsylvania has included didactic sessions on THGC, THGC role plays, THGC standardized patient sessions, and THGC fieldwork experiences and clinical rotations. This article highlights best practices in THGC and guidance for Master of Science in Genetic Counseling (MSGC) programs training the next generation of genetic counselors providing THGC services.

Implementation of a dedicated cascade testing clinic for patients at risk for hereditary cancer syndromes.

Cascade testing, the site-specific genetic testing of relatives within families with an inherited condition, is underutilized. Long wait times for appointments in specialty genetics clinics are a known barrier to genetic testing access. In our cancer genetics, New Patient Clinic (NPC), the long wait time for an appointment (on average 5 months for routine referrals), was identified by both providers and patients as a barrier to uptake of cascade testing. Timely testing of at-risk relatives is essential to maximize the benefits of cascade testing and reduce cancer morbidity and mortality. Our objective was to improve access via implementation of a different clinical model that designated appointments for patients seeking cascade testing. A secondary goal was to improve use of genetic counselor time. We implemented a dedicated Cascade Testing Clinic (CTC) with an expedited triaging and unique scheduling model to decrease patient wait time to appointment and optimize clinician time. We report on the process and outcomes here. Between October 2016 and February 2020, the average wait time between referral date and first scheduled appointment date was 46 days for the CTC compared to 144 days for the NPC (p < 0.0001). No-show/cancelation/rescheduling rate was 11.7% in the CTC compared to 29.7% in the NPC (p < 0.0001). Genetic counselors saw approximately twice as many patients per half-day clinic in the CTC compared to the NPC (p < 0.00001). Modifications to clinic staffing and appointment times were made based on provider feedback. Implementation of a dedicated clinic specifically for patients seeking cascade testing significantly shortened wait times for this population, reduced patient drop-off, and improved clinician efficiency. The relatively straightforward indications and generally uncomplicated medical histories made this an ideal population for expedited appointments.

Something to chat about: An analysis of genetic counseling via asynchronous messaging following direct-to-consumer genetic testing.

Advances in technology, decreasing cost of genetic testing, and growing public interest in genetics marked by an increased uptake of genetic testing, particularly direct-to-consumer genetic testing (DTC-GT), have led to an overwhelming demand for genetic counseling services. As such, various alternative service delivery models have been proposed to increase access to genetic counseling. Some service delivery models, such as asynchronous messaging, remain unexplored in the genetic counseling literature. The purpose of this study was to assess communication during genetic counseling for DTC-GT through asynchronous messaging. A thematic analysis was conducted on 34 de-identified chat transcripts between genetic counselors and clients who underwent DTC-GT. Six categories of communication were identified and were grouped based on communication sources from either the client or the genetic counselor. Categories observed in client communication were motivations for seeking DTC testing and/or genetic counseling services, questions posed to the genetic counselor, responses provided during the session, and psychosocial aspects of the session related to the clients' mental, emotional, social, and spiritual needs. Categories of communication that emerged from the genetic counselors' communications were educational aspects of the session and counseling strategies to address concerns that are not related to educational or informational needs. Most clients had specific questions about variants detected or specific conditions. Many clients asked about appropriate subsequent steps related to additional testing or medical management. Genetic counselors discussed the limitations of DTC-GT and recommendations for clinical grade testing in almost all chat transcripts. In several chats, the genetic counselor provided advice to the client related to minimizing time sorting through likely benign results and refraining from altering medical management. Results suggest that genetic counselors are able to provide genetic information to clients and respond to their mental and emotional needs through asynchronous chat following DTC-GT. Findings from this study provide initial insight into a unique genetic counseling delivery model and reveal the informational and counseling needs of clients following DTC-GT.

Genetic counseling clinic model expansion: Impact on access for general genetics clinic.

Cincinnati Children's Hospital Medical Center (CCHMC) implemented a Genetic Counseling Clinic (GCC), where the appointment for a general genetics indication is conducted solely by a genetic counselor (GC). We conducted a retrospective chart review of 211 patient encounters scheduled in the GCC between January 1, 2022 and June 30, 2022 and collected patient demographics, wait time, appointment characteristics, referral indication, and clinical recommendations. To study impact on patient access, we compared patient demographics and appointment characteristics with 912 patient encounters scheduled in the General Genetics Clinic with a geneticist during the same time period. We found that there were not significant differences in patient demographics scheduled in the GCC as compared with the General Genetics Clinic with the exception of insurance type, where patients scheduled in the GCC were more likely to have private insurance. Patients scheduled in the GCC had a significantly shorter wait time, were more likely to complete their appointment, were more often new to the genetics division, and were more likely to be seen via telehealth (audio plus video or audio-only) as compared with patients scheduled in the General Genetics Clinic. The most common indications for patients scheduled in the GCC were post-test counseling (36.0%) followed by pre-test counseling and coordination of testing (22.3%), and first-line testing for autism, intellectual disability, and developmental delay (13.7%). Completed appointments in the GCC often resulted in the GC ordering genetic testing (67.5%). After genetic testing results were received, most patients (72.7%) did not require subsequent follow-up with the genetics division, thereby reducing burden to the medical genetics team. Our GCC increased access to genetic services and allowed GCs and clinical geneticists to better work at the top of their scope of practice.

Perceived barriers, recommendations, and resources for multistate licensure in the United States: A mixed-methods study of laboratory genetic counselors.

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.