With the advent of FDA approved anti-amyloid therapy and recognition of increased side effects in APOE e4 carriers, APOE testing is now recommended for patients considering anti-amyloid therapies such as lecanemab. Given the therapeutic implications and anticipated volume of eligible patients, the traditional model of in-person, pre- and post-test genetic counseling is not feasible to incorporate in clinical pathways. Alternative delivery models, including digital tools and telehealth, will be key in providing APOE genetic counseling support. The Penn Telegenetics Program provided APOE genotype disclosure to cognitively intact participants across the United States in two Alzheimer’s prevention studies (API Generation Studies 1 and 2). An ancillary, multi-site randomized study (CONNECT 4 APOE) evaluated the relative advantages of real time videoconference over telephone for disclosure of APOE genotype results within the API Generation Program. Outcomes of these studies informed the development of digital tools to support genetic counseling and educational needs specific to this patient population. Standard user and usability testing as well as rapid cycle testing were used in the development of digital tools. Over 2600 API Generation Program participants received APOE genotype disclosure via the Penn Telegenetics Program, and over 600 participants enrolled in the ancillary CONNECT 4 APOE protocol. This work informed the development of clinical chatbots for patients undergoing APOE testing for anti-amyloid therapy. These chats include an education chat for patients prior to receiving APOE results and an APOE result specific chat to provide support to patients after receipt of results. Chatbot development and results of rapid cycle testing with patients will be described. Additionally, experiences with initial implementation of these digital tools and requests for genetic counseling among patients and their relatives will be reported. Harnessing the experiences and outcomes from the described studies provides a unique opportunity to better understand use of telehealth modalities for APOE genotype disclosure and launch the development of digital tools that can further support the genetic counseling needs of this patient population. As indications for APOE testing rapidly increase, alternative delivery models will be critical to maximizing benefits and limiting harms.

The use of multigene panels in clinical practice has created an increasing likelihood that cancer genetic testing will leave many patients with uncertainties regarding test interpretation, implications and recommendations, which will change over time. We lack effective longitudinal clinical care models to provide updated information to patients regarding genetic test results or medical recommendations and to obtain personal and medical history updates. To bridge this gap in genetic medicine, we developed a patient and provider informed digital genetic health portal, "MyCancerGene," to improve longitudinal patient understanding and responses to genetic testing, especially in an evolving landscape of evidence and risk information. We used a 5-step process to develop the MyCancerGene digital tool. To better understand interest in and willingness to utilize a digital genetic health portal, we first surveyed 307 patients who completed genetic testing (Step 1). We completed qualitative interviews with 10 patients and a focus group with 17 providers to inform the content and function of MyCancerGene (Step 2). Next, we developed initial intervention content (Step 3) and completed user testing of intervention content with 25 providers and 28 patients (Step 4). After the prototype intervention was developed, we completed usability testing with eight patients for feedback on the final content, functions and ease of use (Step 5). Patient and provider interviews identified high interest in a patient-centered digital genetic health portal to support longitudinal care. Potential advantages of MyCancerGene, according to patients and providers, included: increased accessibility, convenience and efficiency of accessing their genetic reports and documentation, and increasing and maintaining patient understanding through patient-centered content and educational resources. Both patients and providers endorsed the benefit of the tool for updating personal and family history and for providers to share new risk information, test interpretation or other medical changes. Patient and provider input informed eight key components of the tool: Landing Page, Summary of Care, My Genetic Test Results, My Family History, Provide an Update, Review an Update, Resources and a Screenings Tracker. They also recommended key functions, including the ability to download and print materials and the inclusion of reminders and engagement functions. Potential challenges identified included privacy/security concerns, the potential for electronic information to generate distress, and the need to integrate with existing health portals. While patients were comfortable with updates (even variant reclassification upgrades or clinically significant results), genetic providers had mixed feelings on the appropriateness of sharing variant reclassification upgrades through MyCancerGene MyCancerGene, a patient-centered digital genetic health portal, was developed with extensive patient and provider feedback and designed to enhance longitudinal patient understanding of and affective and behavioral responses to genetic testing, particularly in the era of evolving evidence and risk information. NCT04774445

Background Germline cancer genetic testing has become a standard evidence-based practice, with established risk reduction and screening guidelines for genetic carriers. Access to genetic services is limited in many places, which leaves many genetic carriers unidentified and at risk for late diagnosis of cancers and poor outcomes. This poses a problem for childhood cancer survivors, as this is a population with an increased risk for subsequent malignant neoplasms (SMN) due to cancer therapy or inherited cancer predisposition. The ENG aging and A ctivating cancer survivors in Ge netic services (ENGAGE) study evaluates the effectiveness of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic testing in childhood cancer survivors compared to usual care options for genetic testing. Methods The ENGAGE study is a 3-arm randomized hybrid type 1 effectiveness and implementation study within the Childhood Cancer Survivor Study population which tests a clinical intervention while gathering information on its delivery during the effectiveness trial and its potential for future implementation among 360 participants. Participants are randomized into three arms. Those randomized to Arm A receive genetic services via videoconferencing, those in Arm B receive these services by phone, and those randomized to Arm C will receive usual care services. Discussion With many barriers to accessing genetic services, innovative delivery models are needed to address this gap and increase uptake of genetic services. The ENGAGE study evaluates the effectiveness of an adapted model of remote delivery of genetic services to increase the uptake of recommended genetic testing in childhood cancer survivors. This study assesses the uptake in remote genetic services and identify barriers to uptake to inform future recommendations and a theoretically-informed process evaluation which can inform modifications to enhance dissemination beyond this study population and to realize the benefits of precision medicine. Trial registration This protocol was registered at clinicaltrials.gov (NCT04455698) on July 2, 2020.

10009 Background: Limited access to genetic services in community practices, leaves many childhood cancer survivors who are genetic carriers unidentified and at risk for subsequent malignant neoplasms (SMNs) due to therapy or an inherited cancer predisposition. The ENGaging and Activating cancer survivors in Genetic services (ENGAGE) study evaluated the effectiveness of an in-home, collaborative PCP (primary care provider) model of remote centralized telehealth services to increase uptake of cancer genetic services in survivors compared to usual care. Methods: 414 survivors were randomized to remote services by phone or videoconference (n = 281) or usual care (n = 133). The primary outcome was uptake of genetic counseling or testing at 6 months. In secondary analyses we evaluated baseline characteristics and patient reported outcomes associated with uptake of services. We used Fisher’s Exact tests, Chi-squared tests, and T-tests for analyses. Results: Participants were identified through the NCI-funded Childhood Cancer Survivor Study and included 189 (45.7%) male, 88 (21.1%) nonwhite participants with mean age 52 years (SD 0.65), recruited from over 40 states with a history of CNS tumors (n = 190, 46%), sarcoma (n = 116, 28%), or SMN or a family history of cancer (n = 108, 26%). At 6 months, 40% (n = 113) of survivors in the remote telehealth services arms utilized genetic services as compared to 16% (n = 21) in the usual care arm (p < 0.001). Factors associated with uptake of services included lower baseline genetic knowledge score (31.0, SD 5.8 without uptake versus 29.7, SD 5.1 with uptake, p = 0.025), having more relatives with cancer (1.6, SD 1.5, without uptake versus 2.0, SD 1.8 with uptake, p = 0.019), having a higher perceived risk of cancer on a Likert scale (3.6, SD 1.0 without uptake versus 3.9, SD 0.8 with uptake, p = 0.011), having a history of internet use (35% uptake with use versus 0% without use, p = 0.040), and not having a high deductible plan (30% uptake with high plan versus 42% without, p = 0.025). Having a higher positive attitude toward genetic testing score (e.g. higher perceived value, lower perception of high cost and lower anticipated distress) was associated with uptake of services (29.5, SD 4.3 without uptake versus 31.2, SD 4.4 with uptake, p < 0.001). Conclusions: These data suggest that offering remote centralized telehealth genetic services increases the uptake of genetic services in survivors of childhood cancer across the US using a collaborative PCP model. Although uptake was higher than usual care, barriers to uptake of genetic services remain, including concerns about cost and negative perceptions about genetic testing. Strategies to address multi-level barriers to genetic services are needed to realize the potential of genetic testing in childhood cancer survivors and patients in community practices. Clinical trial information: NCT04455698 .

PurposeWith few exceptions, research on consumer genetic testing for hereditary cancer risk has focused on tests with limited predictive value and clinical utility. Our study advances the existing literature by exploring the experiences and behaviors of individuals who have taken modern consumer genetic tests for cancer susceptibility that, unlike earlier tests, screen for medically significant variants.MethodsWe interviewed 30 individuals who had undergone consumer genetic testing for hereditary cancer risk between 2014 and 2019. We explored participants’ pre-test sentiments (7 items), experiences receiving results (5 items), behavioral and health-related changes (6 items), and attitudes and beliefs (3 items). Data were analyzed for thematic content.ResultsMost participants reported a personal (n = 6) and/or family history (n = 24) of cancer, which influenced their choice to pursue testing. Before testing, most participants did not consult with a physician (n = 25) or receive genetic counseling (n = 23). Nevertheless, the majority felt that they understood test-related information (n = 20) and their results (n = 20), though a considerable number reported experiencing negative emotions related to their results. Most also shared their results with family members (n = 27). Overall, participants’ attitudes towards consumer genetic testing for cancer risk were predominantly positive (n = 23).ConclusionThis study offers new insights into how individuals use and perceive modern consumer genetic tests for hereditary cancer risk, focusing on their perceptions of the risks, benefits, and limitations of these services. Understanding test-takers’ perspectives can potentially inform improvements aimed at ensuring that tests meet users’ needs and deliver clinically valuable genetic risk assessments.

Purpose: 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.

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.

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.

Abstract Purpose To examine the benefit of telehealth over current delivery options in oncology practices without genetic counselors. Methods Participants meeting cancer genetic testing guidelines were recruited to this multi‐center, randomized trial comparing uptake of genetic services with remote services (telephone or videoconference) to usual care in six predominantly community practices without genetic counselors. The primary outcome was the composite uptake of genetic counseling or testing. Secondary outcomes compare telephone versus videoconference services. Results 147 participants enrolled and 119 were randomized. Eighty percent of participants in the telehealth arm had genetic services as compared to 16% in the usual care arm (OR 30.52, p < 0.001). Five genetic mutation carriers (6.7%) were identified in the telehealth arm, compared to none in the usual care arm. In secondary analyses, factors associated with uptake were lower anxiety (6.77 vs. 8.07, p = 0.04) and lower depression (3.38 vs. 5.06, p = 0.04) among those who had genetic services. There were no significant differences in change in cognitive or affective outcomes immediately post‐counseling and at 6 and 12 months between telephone and videoconference arms. Conclusion Telehealth increases uptake of genetic counseling and testing at oncology practices without genetic counselors and could significantly improve identification of genetic carriers and cancer prevention outcomes.

6506 Background: Providing remote genetic services by phone or videoconference for patients at community practices without access to genetic providers could increase access to genetic testing. How uptake of testing compares to usual care options for genetic testing has not been reported. Methods: To date, 106 patients at 6 community practices were randomized to remote genetic counseling (35 phone; 31 videoconferencing) and 40 to usual care (recruitment to end 3/2018). Primary outcomes were uptake of genetic counseling and testing at 6 months. Secondary outcomes include knowledge, state and general anxiety, depression, and cancer-specific distress in phone versus videoconferencing arms. We used Fisher's exact tests, T-tests, and logistic regressions for analyses. Results: 92% of participants are female, 17% are non-white, 33% are college graduates and 65% have a history of cancer. 86% had multigene panel testing. At 6 months, 79% (52/66) of participants in the remote services arms had pre-test genetic counseling as compared to 5% (2/40) in the usual care arm (p < 0.001). 56% (37/66) in the remote services arm completed genetic testing and 4 genetic carriers were identified (ATM, MUTYH and 2 with BRCA2) as compared to 12.5% (5/40) and 0 carriers in the usual care arm (p < 0.001 for genetic testing uptake). Highest income levels (p < 0.05), older age (p = 0.07) and being married (p = 0.06) were associated with uptake of testing. In secondary analyses comparing the videoconference and phone arms, we have found greater knowledge gains (phone: +7.4, SD 10.5 v. VC: 17.8, SD 16.5, p < 0.01) and reductions in depression (phone +0.1, SD 2.3 v. VC: -1.1, SD 2.0, p = 0.07) from baseline to post-disclosure with videoconferencing as compared to phone. Conclusions: These data suggest that offering remote genetic services by phone or real-time videoconference may increase the uptake of testing and identification of genetic carriers in community practices without access to genetic services. Continued evaluation of the relative benefits of videoconferencing over telephone counseling in patients at community practices is critical to understanding how to optimize patient outcomes. Clinical trial information: NCT02517554.

The Generation Study 1 is an Alzheimer's prevention trial recruiting 60-75 year old APOE e4 homozygotes. Participants have to learn their APOE e4 genotype to screen for this trial. While some studies have reported favorable psychosocial outcomes after APOE genotype disclosure, outcomes in homozygotes and diverse populations remain limited. Participants are recruited through the Alzheimer's Prevention Initiative Generation Program, enrolling APOE e4 carriers for preclinical Alzheimer's disease trials. A pre-disclosure educational video informs participants about Alzheimer's disease, APOE and considerations for learning their APOE results. Genotype disclosure is provided remotely (phone or videoconference) with a genetic counselor or on-site with a genetic counselor or physician with expertise in neurogenetics. Participants complete pre-disclosure, post-disclosure (2-7 days), 6 week and 6 month measures including genetic knowledge, result recall, perceived risk, state anxiety, depression, disease-specific anxiety, positive and negative responses, uncertainty, satisfaction and health behaviors. T-tests and ANOVAs were used to compare groups. As of Oct 2017, 151 participants have received APOE e4 results, including 61 homozygotes, 46 heterozygotes and 44 non-carriers. The mean age of participants is 65.9 (SD 4.21), 76% are female. Homozygotes had less decline in state anxiety than non-carriers and heterozygotes at post-disclosure (homozygotes 0.0, SD 3.01, non-carriers 0.0, SD 3.83, heterozygotes -1.7, SD 3.33). Yet, subgroups only showed small differences in change in state anxiety at 6 weeks or 6 months. Homozygotes had increases in disease-specific distress post-disclosure, while the other groups had declines (homozygotes +2.3, SD 6.70, non-carriers -1.1, SD 7.21, heterozygotes -0.4, SD 5.48). At 6 weeks and 6 months, genotype subgroups had only small differences in change in disease-specific distress. There were only small differences between groups in change in depression at any time point. Initial results suggest that while APOE e4 homozygotes experience less decline in anxiety and distress after result disclosure, both decline over time and don't differ from heterozygotes and non-carriers at 6 months. Ongoing data collection will provide an opportunity to evaluate additional participant outcomes and factors associated with more favorable outcomes.