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Background Genetic testing has become more complex with the transition from single gene testing to multi-gene panels and whole-exome sequencing. The adoption of more complex genetic testing and the promise of precision medicine has created a critical and urgent need for longitudinal clinical follow-up with patients who undergo cancer genetic testing given the residual uncertainty. There is an increasing need for multidisciplinary translational research that focuses on how to advance precision medicine discoveries into clinical practice and to capitalize on connectivity (e.g. digital health) interventions in ways that optimize cancer risk reducing behaviors in real-world clinical populations. Methods The overall goal of this Hybrid Type 1 effectiveness-implementation randomized study is to evaluate the effectiveness of the MyCancerGene intervention to improve longitudinal (short-term and long-term) understanding (e.g. knowledge) and reactions to (e.g. anxiety) clinical genetic testing compared to usual care. We hypothesize that access to MyCancerGene will be associated with short-term and post-disclosure increases in knowledge, decreases in distress, increases in communication with relatives and health care providers and performance of risk reducing health behaviors compared to usual care. Equally important, we hypothesize that our implementation process evaluation will inform recommendations for future adaptation and sustainability for other precision medicine applications. Discussion Given the increasing complexity of genetic testing applications (e.g. multi-gene testing, whole exome sequencing) and the need for post-disclosure follow-up, we expect this study to inform evidence-based practice guidelines for delivery of genetic medicine and potentially change the paradigm to include longitudinal care in precision medicine. To address the clinically significant gap in the delivery of genetic medicine, patient and provider stakeholder input have been used to develop a patient and provider informed centered genetic digital health portal to enhance patient understanding of, and affective and behavioral responses to genetic testing, particularly in the era of evolving evidence and risk information. Trial registration This protocol was registered at clinicaltrials.gov (NCT04774445) in February 18, 2021.

The use of multigene panels has significantly increased the likelihood that genetic testing will leave patients with uncertainties regarding test interpretation, implications, and recommendations, which will change over time. Effective longitudinal care models are needed to provide patients with updated information and to obtain patient and family history updates. To bridge this gap, we aimed to develop a patient- and genetic provider-informed digital genetic health portal (GHP), MyCancerGene, to improve longitudinal patient understanding of and responses to genetic testing. We used a 5-step process to develop MyCancerGene. To better understand their interest in and willingness to use a digital GHP, we surveyed 307 patients who completed genetic testing (step 1). We completed qualitative interviews with 10 patients and a focus group with 17 genetic 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 developing the prototype intervention, we completed usability testing with 8 patients for their feedback on the final content, functions, and ease of use (step 5). In surveys conducted in step 1, 90% of patients with positive results reported interest in a digital GHP, and over 75% of participants with variants of uncertain significance or uninformative negative results reported similar interest. The most frequently reported advantages among patients were increasing accessibility, convenience, and efficiency (103/224, 46%); keeping genetic information organized (54/224, 24.1%); and increasing or maintaining patient understanding of the information (38/224, 17%). In qualitative interviews (step 2), both patients and genetic 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: (1) Landing Page, (2) Summary of Care page, (3) My Genetic Test Results page, (4) My Family History page, (5) Provide an Update page, (6) Review an Update page, (7) Resources page, and (8) the 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 by patients included privacy and security concerns (67/206, 32.5%) and the potential for electronic information to generate distress (20/206, 9.7%). While patients were comfortable with updates (ie, even variant reclassification upgrades or clinically significant results), 44% (11/25) of genetic providers were uncomfortable sharing variant reclassification upgrades through MyCancerGene. MyCancerGene, a patient-centered digital GHP, was developed with extensive patient and genetic 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.

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. Providing remote telehealth genetic services increases uptake of genetic counseling and testing at oncology practices without genetic counselors. These data highlight the value of telehealth strategies to significantly improve identification of genetic carriers and cancer prevention outcomes.

Germline BRCA1 and BRCA2 testing is a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. With Food and Drug Administration approval for poly (adenosine diphosphate ribose) polymerase (PARP) inhibitors in patients with metastatic breast, ovarian, pancreatic, and prostate cancer, there is an additional therapeutic rationale for testing all patients with these cancers for germline BRCA1 and BRCA2 mutations. However, many at-risk patients do not have access to genetic services, leaving many genetic carriers unidentified. The eREACH (A Randomized Study of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Metastatic Breast, Ovarian, Prostate, and Pancreatic Cancer Patients) study evaluates the effectiveness of a theoretically and stakeholder-informed eHealth (eg, digital) delivery alternative to traditional genetic counseling for patients with metastatic breast or prostate cancer or advanced or metastatic ovarian or pancreatic cancer referred for genetic testing to determine whether they are candidates for a PARP inhibitor. The eREACH study is a randomized noninferiority study using a 2 × 2 design to test a self-directed digital intervention to deliver clinical genetic testing for patients with metastatic cancers. The traditional standard-of-care pretest (visit 1) and posttest (visit 2-disclosure) counseling delivered by a genetic counselor is replaced with our patient-informed digital intervention. The four arms were as follows: arm A, genetic counselor for visits 1 and 2; arm B, genetic counselor for visit 1 and digital intervention for visit 2; arm C, digital intervention for visit 1 and genetic counselor for visit 2; and arm D, digital intervention for both visits. Participants were adults with advanced or metastatic breast, ovarian, pancreatic, and prostate cancer. The primary outcomes of this study were change in genetic knowledge and anxiety from baseline to postdisclosure assessment. We will test whether the digital intervention is noninferior to standard-of-care counseling with a genetic counselor using a modified noninferiority ANOVA of the posttest disclosure minus baseline change scores. In secondary analyses, we will test pairwise differences among the 4 groups. As of January 2025, we have completed enrollment of 229 participants. Data analysis is ongoing, and we expect the results to be published in 2025. Increasing indications for BRCA1 and BRCA2 testing create a pressing need to evaluate alternative delivery models to increase access and uptake of these tests while maintaining adequate patient cognitive, affective, and behavioral outcomes. The eREACH study evaluates the effectiveness of an interactive, patient-centered digital intervention to deliver clinical genetic testing to patients with metastatic cancers. We expect that this work will inform evidence-based guidelines and the standard of care for delivery of genetic testing, and it is designed to be broadly applicable and easily adaptable for other populations and settings even beyond oncology. ClinicalTrials.gov NCT04353973; https://clinicaltrials.gov/study/NCT04353973. DERR1-10.2196/72515.

Background While there is increasing interest in sharing genetic research results with participants, how best to communicate the risks, benefits and limitations of research results remains unclear. Methods Participants who received genetic research results answered open and closed‐ended questions about their experiences receiving results and interest in and advantages and disadvantages of a web‐based alternative to genetic counseling. Results 107 BRCA1/2 negative women with a personal or family history of breast cancer consented to receive genetic research results and 82% completed survey items about their experience. Most participants reported there was nothing they disliked (74%) or would change (85%) about their predisclosure or disclosure session (78% and 89%). They most frequently reported liking the genetic counselor and learning new information. Only 24% and 26% would not be willing to complete predisclosure counseling or disclosure of results by a web‐based alternative, respectively. The most frequently reported advantages included convenience and reduced time. Disadvantages included not being able to ask questions, the risk of misunderstanding and the impersonal nature of the encounter. Conclusion Most participants receiving genetic research results report high satisfaction with telephone genetic counseling, but some may be willing to consider self‐directed web alternatives for both predisclosure genetic education and return of results. Return of genetic research results is an increasing area of interest and concern for participants and researchers. How best to share this information remains unknown. Analysis of open and closed‐ended survey questions about experiences, and expectations about receiving research results, indicate high satisfaction with traditional genetic counseling but also participant willingness to consider web alternatives to both pre‐disclosure genetic education and actual return of results.

Videoconferencing has been used to expand medical services to low-access populations and could increase access to genetic services at community sites where in-person visits with genetic providers are not available. To evaluate the feasibility of, patient feedback of, and cognitive and affective responses to remote two-way videoconferencing (RVC) telegenetic services at multiple sociodemographically diverse community practices without access to genetic providers. Patients at 3 community sites in 2 US states outside the host center completed RVC pretest (visit 1, V1) and post-test (visit 2, V2) genetic counseling for cancer susceptibility. Surveys evaluated patient experiences, knowledge, satisfaction with telegenetic and cancer genetics services, anxiety, depression, and cancer worry. A total of 82 out of 100 (82.0%) approached patients consented to RVC services. A total of 61 out of 82 patients (74%) completed pretest counseling and 41 out of 61 (67%) proceeded with testing and post-test counseling. A total of 4 out of 41 (10%) mutation carriers were identified: BRCA2, MSH2, and PMS2. Patients reported many advantages (eg, lower travel burden and convenience) and few disadvantages to RVC telegenetic services. Most patients reported feeling comfortable with the video camera--post-V1: 52/57 (91%); post-V2: 39/41 (95%)--and that their privacy was respected--post-V1: 56/57 (98%); post-V2: 40/41 (98%); however, some reported concerns that RVC might increase the risk of a confidentiality breach of their health information--post-V1: 14/57 (25%); post-V2: 12/41 (29%). While the majority of patients reported having no trouble seeing or hearing the genetic counselor--post-V1: 47/57 (82%); post-V2: 39/41 (95%)--51 out of 98 (52%) patients reported technical difficulties. Nonetheless, all patients reported being satisfied with genetic services. Compared to baseline, knowledge increased significantly after pretest counseling (+1.11 mean score, P=.005); satisfaction with telegenetic (+1.74 mean score, P=.02) and genetic services (+2.22 mean score, P=.001) increased after post-test counseling. General anxiety and depression decreased after pretest (-0.97 mean anxiety score, P=.003; -0.37 mean depression score, P=.046) and post-test counseling (-1.13 mean anxiety score, P=.003; -0.75 mean depression score, P=.01); state anxiety and cancer-specific worry did not significantly increase. Remote videoconferencing telegenetic services are feasible, identify genetic carriers in community practices, and are associated with high patient satisfaction and favorable cognitive and affective outcomes, suggesting an innovative delivery model for further study to improve access to genetic providers and services. Potential barriers to dissemination include technology costs, unclear billing and reimbursement, and state requirements for provider licensure.

Purpose: Multiplex genetic testing, including both moderate- and high-penetrance genes for cancer susceptibility, is associated with greater uncertainty than traditional testing, presenting challenges to informed consent and genetic counseling. We sought to develop a new model for informed consent and genetic counseling for four ongoing studies. Methods: Drawing from professional guidelines, literature, conceptual frameworks, and clinical experience, a multidisciplinary group developed a tiered-binned genetic counseling approach proposed to facilitate informed consent and improve outcomes of cancer susceptibility multiplex testing. Results: In this model, tier 1 “indispensable” information is presented to all patients. More specific tier 2 information is provided to support variable informational needs among diverse patient populations. Clinically relevant information is “binned” into groups to minimize information overload, support informed decision making, and facilitate adaptive responses to testing. Seven essential elements of informed consent are provided to address the unique limitations, risks, and uncertainties of multiplex testing. Conclusion: A tiered-binned model for informed consent and genetic counseling has the potential to address the challenges of multiplex testing for cancer susceptibility and to support informed decision making and adaptive responses to testing. Future prospective studies including patient-reported outcomes are needed to inform how to best incorporate multiplex testing for cancer susceptibility into clinical practice. Genet Med 17 6, 485–492.

Purpose To better understand the longitudinal risks and benefits of telephone disclosure of genetic test results in the era of multigene panel testing. Methods Adults who were proceeding with germline cancer genetic testing were randomized to telephone disclosure (TD) with a genetic counselor or in-person disclosure (IPD) (i.e., usual care) of test results. All participants who received TD were recommended to return to meet with a physician to discuss medical management recommendations. Results Four hundred seventy-three participants were randomized to TD and 497 to IPD. There were no differences between arms for any cognitive, affective, or behavioral outcomes at 6 and 12 months. Only 50% of participants in the TD arm returned for the medical follow-up appointment. Returning was associated with site ( p  < 0.0001), being female ( p  = 0.047), and not having a true negative result ( p  < 0.002). Mammography was lower at 12 months among those who had TD and did not return for medical follow-up (70%) compared with those who had TD and returned (86%) and those who had IPD (87%, adjusted p  < 0.01). Conclusion Telephone disclosure of genetic test results is a reasonable alternative to in-person disclosure, but attention to medical follow-up may remain important for optimizing appropriate use of genetic results.

Dissemination of genetic testing for disease susceptibility, one application of \"personalized medicine\", holds the potential to empower patients and providers through informed risk reduction and prevention recommendations. Genetic testing has become a standard practice in cancer prevention for high-risk populations. Heightened consumer awareness of \"cancer genes\" and genes for other diseases (eg, cardiovascular and Alzheimer's disease), as well as the burgeoning availability of increasingly complex genomic tests (ie, multi-gene, whole-exome and -genome sequencing), has escalated interest in and demand for genetic risk assessment and the specialists who provide it. Increasing demand is expected to surpass access to genetic specialists. Thus, there is urgent need to develop effective and efficient models of delivery of genetic information that comparably balance the risks and benefits to the current standard of in-person communication. The aim of this pilot study was to develop and evaluate a theoretically grounded and rigorously developed protocol for telephone communication of BRCA1/2 (breast cancer) test results that might be generalizable to genetic testing for other hereditary cancer and noncancer syndromes. Stakeholder data, health communication literature, and our theoretical model grounded in Self-Regulation Theory of Health Behavior were used to develop a telephone communication protocol for the communication of BRCA1/2 genetic test results. Framework analysis of selected audiotapes of disclosure sessions and stakeholders' feedback were utilized to evaluate the efficacy and inform refinements to this protocol. Stakeholder feedback (n=86) and audiotapes (38%, 33/86) of telephone disclosures revealed perceived disadvantages and challenges including environmental factors (eg, non-private environment), patient-related factors (eg, low health literacy), testing-related factors (eg, additional testing needed), and communication factors (eg, no visual cues). Resulting modifications to the communication protocol for BRCA1/2 test results included clarified patient instructions, scheduled appointments, refined visual aids, expanded disclosure checklist items, and enhanced provider training. Analyses of stakeholders' experiences and audiotapes of telephone disclosure of BRCA1/2 test results informed revisions to communication strategies and a protocol to enhance patient outcomes when utilizing telephone to disclose genetic test results.

Background . As familial cancer genetic services moves into community practice increased numbers of trained health professionals are needed to counsel individuals seeking cancer risk information. Nurses have been targeted to provide cancer risk assessment and counseling. To help prepare nurses for this role, a 5-day training in familial cancer risk assessment and counseling followed by a long-distance mentorship to support continued skill development in the work environment was conducted by Fox Chase Cancer Center, Philadelphia, PA. Methods . Four cohorts ( N  = 41) have completed the training and were randomized to either an immediate or delayed mentorship. A formative evaluation assessed the nurse’s ability to consult with other genetic health professionals and build self-efficacy in counseling skills via responses to questionnaire. A post-mentorship interview evaluated the usefulness, timing and length of the mentorship. Results . For both groups, there was a statistically significant improvement in self-efficacy for all skills from baseline to 6 months and an increased number of nurses consulting with genetic health professionals. All the nurses reported the value of the mentorship and those with less cancer risk counseling experience prior to the training needed support and resources for further skill and program development. Lessons learned from this formative evaluation are provided.