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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.

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.