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.

Retrospective chart analysis to determine the impact of a patient-facing digital risk stratification tool combined with a clinical screener for hereditary cancer genetic risk assessment triage in a community oncology clinic.

The purpose of this study was to evaluate the utility of adding a clinical screener to the patient-facing digital risk stratification tool triage process for the identification of patients eligible for a genetic risk assessment for hereditary cancer. Digital risk stratification entries were retrospectively reviewed to determine the overall number of patients eligible for genetic risk assessment. These were also analyzed to determine how many patients were re-contacted by the clinical screener, and how many of those recontacted patients met criteria after their personal and family history was revised by the clinical screener. There was an 89.9% digital risk stratification triage tool completion rate, with 22.6% requiring contact from the clinical screener. Of the 640 patients who completed the digital tool, 5.9% met criteria for testing after their personal and/or family history was revised by the clinical screener. Overall, 51.1% of patients met criteria for a genetic risk assessment. The addition of a clinical screener further increased identification of patients eligible for genetic risk assessment. About half of patients who met criteria after being contacted by the clinical screener met criteria based on their personal diagnosis of cancer alone. Incorporation of a clinical screener to the digital screening process may serve to reduce barriers to patient completion of the tool and increase rates of patient identification for cancer genetic services.

Genetic counseling and testing for females at elevated risk for breast cancer: Protocol for the randomized controlled trial of the Know Your Risk intervention.

BACKGROUND: Genetic counseling and testing have an important role in the care of patients at elevated risk for breast cancer. However, conventional pre- and post-test genetic counseling is labor and time intensive, less accessible for patients living outside major urban centers, and impractical on a large scale. A patient-driven approach to genetic counseling and testing may increase access, improve patients' experiences, affect efficiency of clinical practice, and help meet workforce demand. The objective of this 2-arm randomized controlled trial is to determine the efficacy of Know Your Risk (KYR), a genetic counseling patient preference intervention. METHODS: Females (n = 1000) at elevated risk (>20% lifetime) for breast cancer will be randomized to the KYR intervention or conventional genetic counseling. The study will provide comprehensive assessment of breast cancer risk by multigene panel testing and validated polygenic risk score. Primary outcome is adherence to National Comprehensive Cancer Network guidelines for a clinical encounter every 6-12 months and an annual mammogram (breast MRI if recommended) determined by medical record review. Secondary outcomes include adherence to other recommended cancer screening tests determined by medical record review and changes in breast cancer knowledge, perception of risk, post-test/counseling distress, and satisfaction with counseling by completion of three surveys during the study. Study aims will be evaluated for non-inferiority of the KYR intervention compared to conventional genetic counseling. CONCLUSION: If efficacious, the KYR intervention has the potential to improve patients' experience and may change how genetic counseling is delivered, inform best practices, and reduce workforce burden. TRIAL REGISTRATION: ClinicalTrials.govNCT05325151.

Development of a web-based, theory-guided narrative intervention for women at elevated risk for breast cancer.

OBJECTIVE: To describe the development of a web-based, theory-guided narrative intervention that replaces conventional pre-test genetic counseling for women at elevated breast cancer risk. METHODS: We used an iterative process that was guided by health behavior theory and feedback from multiple stakeholder groups including: 1) content input from genetic experts; 2) study team input; 3) review of video storyboards, video example, study logo, recruitment materials, post-test patient preference counseling survey, and additional study surveys; 4) video series development; and 5) intervention review and finalization of study-related materials. RESULTS: The intervention is patient-centered providing convenience and an opportunity for an individual's preferences for post-test counseling delivery. The intervention's efficacy is being determined in a randomized controlled trial compared to conventional genetic counseling for adherence to recommended guidelines and changes in knowledge, perception of breast cancer risk, breast cancer-specific worry, and satisfaction with counseling. CONCLUSION: If efficacious, the intervention may improve the delivery of the genetic testing and counseling process, inform best practices, and reduce the genetic counseling workforce burden. PRACTICE IMPLICATIONS: The developed intervention has the potential to improve the genetic testing and counseling experience for women at elevated risk for breast cancer, inform best practices, and reduce genetic counseling workforce burden.

Predicting breast cancer risk in a racially diverse, community-based sample of potentially high-risk women.

BACKGROUND: Identifying women with high risk of breast cancer is necessary to study high-risk experiences and deliver risk-management care. Risk prediction models estimate individuals' lifetime risk but have rarely been applied in community-based settings among women not yet receiving specialized care. Therefore, we aimed: (1) to apply three breast cancer risk prediction models (i.e., Gail, Claus, and IBIS) to a racially diverse, community-based sample of women, and (2) to assess risk prediction estimates using survey data. METHODS: An online survey was administered to women who were determined by a screening instrument to have potentially high risk for breast cancer. Risk prediction models were applied using their self-reported family and medical history information. Inclusion in the high-risk subsample required ≥20% lifetime risk per ≥1 model. Descriptive statistics were used to compare the proportions of women identified as high risk by each model. RESULTS: N = 1053 women were initially eligible and completed the survey. All women, except one, self-reported the information necessary to run at least one model; 90% had sufficient information for >1 model. The high-risk subsample included 717 women, of which 75% were identified by one model only; 96% were identified by IBIS, 3% by Claus, <1% by Gail. In the high-risk subsample, 20% were identified by two models and 3% by all three models. CONCLUSIONS: Assessing breast cancer risk using self-reported data in a community-based sample was feasible. Different models identify substantially different groups of women who may be at high risk for breast cancer; use of multiple models may be beneficial for research and clinical care.

Telehealth for genetic counseling: A systematic evidence review.

Telehealth options, such as telephone counseling or videoconferencing, for service delivery in genetic counseling are becoming more widely accepted. However, until now, there has not been a systematic review of the literature focused specifically on genetic counseling outcomes for telehealth. We performed a systematic evidence review to compare telehealth genetic counseling (THGC), including videoconferencing and telephone counseling, across specialties to in-person genetic counseling (IPGC) for a range of outcomes specific to patient and provider experiences and access to care. Several biomedical databases were queried up to January 11, 2021, to identify original research evaluating THGC. Through this search, 42 articles met the inclusion criteria including 13 randomized controlled trials and 29 non-randomized observational studies encompassing 13,901 patients. Most included studies focused only on cancer genetic counseling; however, adult, pediatric, and prenatal specialties were also represented. The majority of studies evaluated patient and/or access to care outcomes. Though most studies reported high patient satisfaction with THGC, as well as comparable rates of trust and rapport, confidence in privacy, health behavior changes, and psychosocial outcomes, few represented diverse populations. Data of provider experiences were limited and varied with more disadvantages noted compared with patient experiences, particularly in studies involving telephone genetic counseling. Studies consistently reported a decrease in the patients' costs and time required for travel when patients are seen via THGC compared to IPGC with a similar reduction in costs to the health system. Overall, results from our evidence synthesis suggest THGC is non-inferior or comparable to IPGC across many domains, even considering that many of the studies included in this review were conducted with telehealth systems, notably videoconferencing, that were less robust and reliable than what is available today. There are notable limitations within this body of literature, leading to potential uncertainty in the generalizability of our analysis. We outline several recommendations for future studies.

The Undergraduate Training in Genomics (UTRIG) Initiative: early & active training for physicians in the genomic medicine era.

Genomic medicine is transforming patient care. However, the speed of development has left a knowledge gap between discovery and effective implementation into clinical practice. Since 2010, the Training Residents in Genomics (TRIG) Working Group has found success in building a rigorous genomics curriculum with implementation tools aimed at pathology residents in postgraduate training years 1-4. Based on the TRIG model, the interprofessional Undergraduate Training in Genomics (UTRIG) Working Group was formed. Under the aegis of the Undergraduate Medical Educators Section of the Association of Pathology Chairs and representation from nine additional professional societies, UTRIG's collaborative goal is building medical student genomic literacy through development of a ready-to-use genomics curriculum. Key elements to the UTRIG curriculum are expert consensus-driven objectives, active learning methods, rigorous assessment and integration.