JMIR Research Protocols

An eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Patients With Metastatic Cancers: Protocol for a Randomized Trial

Background 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. Objective 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. Methods 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. Results 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. Conclusions 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. Trial Registration ClinicalTrials.gov NCT04353973; https://clinicaltrials.gov/study/NCT04353973 International Registered Report Identifier (IRRID) DERR1-10.2196/72515

Lung Cancer Screening in Family Members and Peers of Patients With Lung Cancer: Protocol for a Prospective Cohort Study

Background Low-dose computed tomography (LDCT) screening is promising for the early detection of lung cancer (LC) and the reduction of LC-related mortality. Despite the implementation of LC screening programs worldwide, recruitment is challenging. While recruitment for LC screening is based on physician referrals and mass advertising, novel recruitment strategies are needed to improve the enrollment of high-risk individuals into LC screening. Objective We aim to identify whether patients with LC can act as advocates to enroll their family members and close contacts into LC screening and whether this strategy increases screening uptake at the population level. Methods We designed a prospective cohort study comprising 2 cohorts constituted between June 2023 and January 2024 with a prospective follow-up of 18 months. Patients with LC (cohort 1) are approached at clinics of the McGill University Health Centre, educated on tools for communicating with family members and close contacts about the benefits of LC screening, and invited to refer their close ones. Referred individuals (cohort 2) are directed to this study’s web-based questionnaire to assess their LC risk score with the PLCOm2012 (Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial) prediction model. Individuals meeting the eligibility criteria for LC screening (PLCOm2012 score ≥2% and aged 55-74 years) are directed toward the Quebec LC screening program. Data collected include sociodemographic characteristics, health literacy and smoking status (all participants), patient activation (cohort 1), perceived risk of LC, and generalized anxiety at baseline and at 28 days (cohort 2). LDCT completion within 18 months from referral is assessed from health records. Focus groups will identify the barriers and facilitators in the uptake of LC screening and preventative behaviors based on perceived genetic and clinical LC risks. The primary outcomes are the number of referred participants per survivor of LC and the mean risk of LC of the referred population based on PLCOm2012 scores. The secondary outcomes are the proportion of (1) participants eligible for LC screening; (2) participants eligible for screening who complete LDCT screening within 18 months of referral from a survivor of LC; (3) participants showing interest in genetic testing to inform LC risk; and (4) participants showing interest in a smoking cessation program. Multivariable logistic regression will identify the predictive factors of being referred for LC screening. PLCOm2012 scores will be compared for referred participants and controls from the provincial LC screening program. Results Overall, 25 survivors of LC and 84 close contacts were enrolled from June 2023 to January 2024, with followed up through July 2025. The results are expected by the end of 2025. Conclusions We describe an approach to LC screening referral, leveraging patients with LC as advocates to increase screening awareness and uptake among their family and peers. Trial Registration ClinicalTrials.gov NCT05645731; https://clinicaltrials.gov/ct2/show/NCT05645731 International Registered Report Identifier (IRRID) DERR1-10.2196/58529

Educational Intervention to Improve Sexual Health and Quality of Life in Survivors of Breast and Gynecological Cancer: Protocol for a Mixed Methods Feasibility Study

Abstract Background Sexual health is often underaddressed in cancer care, especially among survivors of breast and gynecological cancer. In Colombia, treatment side effects, cultural stigma, and limited training among health care providers affect well-being. Although international guidelines promote patient-centered and culturally sensitive approaches, few interventions have been implemented in low- and middle-income settings. Objective This study aimed to describe the feasibility and acceptability of an educational psychosexual intervention for survivors of breast and gynecological cancer, including design, integration of qualitative and quantitative methods, core components, measurement time points, and a prespecified analysis plan. Methods This is a prospective, single-group feasibility study at a university hospital in Colombia. Participants are adult women who completed treatment for breast or gynecological cancer at least 2 years before enrollment. The intervention combines tiered educational workshops, semistructured group interviews, and optional individualized counseling. Qualitative data will explore perceptions, barriers, and facilitators related to sexual health and well-being. Quantitative outcomes include the Female Sexual Function Index and European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 before and after the intervention to estimate change. Pre- and postintervention scores will be compared with paired tests and CIs. Qualitative data will undergo reflexive thematic analysis. Mixed findings will inform feasibility, acceptability, and practical recommendations. The intervention was co-designed with survivors and a multidisciplinary team, refined by expert review and a manual, and pilot-tested to optimize acceptability, logistics, and fidelity. Results The study was funded in December 2024 and approved by the Comité de Ética en Investigación Biomédica of Fundación Valle del Lili. Recruitment began in March 2025 and is expected to end in September 2025. As of July 2025, 13 participants had enrolled (n=2, 15.4% survivors of breast cancer; n=11, 84.6% survivors of gynecological cancer). Based on pretrial piloting, shorter session blocks and optional hybrid delivery were made available to support adherence while preserving core content and objectives. Final analysis is planned for October 2025, with results expected in December 2025. Conclusions This protocol evaluates the feasibility and acceptability of a codesigned, context-adapted psychosexual education model. Findings will guide implementation refinements and the design of a future comparative study of effectiveness and longer-term outcomes and may inform sustainable integration of sexual health into survivorship care in low- and middle-income settings. The model is intended to be replicable and scalable across oncology and other chronic disease contexts.