The Heart Hive direct-to-patient platform identified cardiomyopathy patients with genetic architecture equivalent to clinic cohorts, finding rare variants in 34.7% of DCM and 44.7% of HCM patients.
Does a direct-to-patient platform accurately identify cardiomyopathy patients with equivalent genetic architecture to clinic-recruited cohorts?
A direct-to-patient platform for cardiomyopathy research successfully enrolled patients with equivalent genetic architecture to clinic-recruited cohorts, demonstrating the feasibility of decentralized genomic research.
Absolute Event Rate: 0% vs 0%
Abstract Background Direct-to-patient platforms can remove geographic and clinic-capacity barriers to rare-disease research. Heart Hive was developed to support nationwide, genomics-enabled cardiomyopathy research and rapid patient-study matching. Methods Adults with a cardiomyopathy diagnosis or inherited risk self-enrol in the heart hive platform, complete baseline data about their condition for study matching, and are invited to provide longitudinal data including patient-reported outcomes. In a pilot Cardiomyopathy Study to validate this route of patient identification, participants provided online consent and returned saliva kits by post for central targeted sequencing (cardiomyopathy panel). Participants have consented to linkage with national death registrations (ONS) and Hospital Episode Statistics (HES). Engagement is supported by formal PPIE and patient-group partnerships. The Cardiomyopathy Study is ongoing: initially focused on HCM/DCM, it now includes ARVC and Takotsubo and is transitioning to whole-genome sequencing to characterise both rare and common variation. Results As of October 2024, 338 participants met eligibility for the validation study; 227/338 (67.5%) enrolled and completed baseline surveys; 195/227 (86%) returned saliva kits; 174 were sequenced for the study; follow-up survey completion was 83% among sequenced participants. The pilot cohort (98 DCM; 76 HCM) was 57% female, 97.7% White European ancestry, median age 57.5 years at recruitment; 78% had never previously taken part in cardiovascular research. Genetic architecture was equivalent to a clinic-recruited comparator: rare variants in DCM genes in 34.7% vs 30.6% (p=0.42) and in HCM genes in 44.7% vs 38.2% (p=0.30), with no gene-level distribution differences. Actionable variants were identified in 17% of DCM and 29% of HCM participants opting for personal results. Conclusions The pilot Cardiomyopathy Study validates that patient self-report can identify cardiomyopathy patients with the same accuracy as clinic-ascertained cohorts based on equivalent genetic architecture. We also show our approach generates strong engagement and retention. The Heart Hive platform operationalises a trial-ready, patient-centred model for cardiomyopathy: fully decentralised enrolment, sustained retention, and linkage-ready approvals for registry-verified outcomes. More broadly, the Heart Hive platform provides a national ‘front door’ for REC-approved cardiovascular research: patient–study matching (including genotype where required), study-specific e-consent, longitudinal participant-facing data capture and democratised sharing of study opportunities with research-willing participants. Optional mail-out genomic sequencing can be deployed when a project requires genotype-confirmed eligibility, enabling rapid feasibility checks, start-up, and re-contact for precision-therapy studies.
Roberts et al. (Sun,) reported a other. The Heart Hive direct-to-patient platform identified cardiomyopathy patients with genetic architecture equivalent to clinic cohorts, finding rare variants in 34.7% of DCM and 44.7% of HCM patients.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: