LEVERAGING PATIENT-DIRECTED RESEARCH TO INVESTIGATE THE GENETIC MECHANISMS OF SPONTANEOUS CORONARY ARTERY DISSECTION

Résumé fourni par la source

ASCVD/CVD Risk Factors Spontaneous coronary artery dissection (SCAD) is an under-recognized common cause of premature myocardial infarction largely among women. While often sporadic, recent small studies have indicated that genetic variation significantly contributes to SCAD risk. Uncovering the genetic contributors of SCAD can promote mechanistic discovery to advance risk prediction. We describe a novel direct-to-patient recruitment effort to catalyze these goals. We developed a web-based direct-to-patient portal, called the gVasc (Genetics of Vascular Disease) study, to facilitate the nationwide enrollment of adults with SCAD. The portal enables participants to independently provide informed consent, complete surveys, and submit health information. Saliva samples are collected for genetic sequencing either in person or via kits mailed directly to participants. The portal streamlines backend logistics by tracking participant activities, managing sample collection, and facilitating data organization, reducing the burden of manual coordination. Recruitment efforts have been primarily centralized at Massachusetts General Hospital (MGH), where eligible patients with SCAD have been identified through electronic health record (EHR), approached at outpatient cardiology clinic visits, sent an electronic or paper research announcement, or engaged through other outreach efforts (i.e., social media), through which they directly accessed the study portal and enrolled. Since its launch in December 2024, the gVasc study has enrolled 157 participants (90.4% female; mean age, 54.2 years; 80.6% White). Enrollment occurred through various channels: 23% (n=36) of participants enrolled via an outpatient cardiology visit, 33% (n=52) via a research announcement, 38% (n=60) via a follow-up call. Approximately 6% (n=9) enrolled independently through other direct outreach efforts. A direct-to-patient model for recruitment of individuals with SCAD is feasible and serves as an exemplar of patient-partnered research. While the gVasc portal provides a streamlined approach to study management, our experience reinforces the need for robust, multi-tiered recruitment efforts to engage patients effectively. Broader efforts for recruitment nationwide are now ongoing.

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