Poster Number
18
Poster Title
Advancing Genomic Equity through Federated Discovery: Implementing Beacon in Underrepresented Populations
Authors
Darren Brouder, Riyona D'Silva, Caroline Duncan, Vinod Gauba (GeneVault)
Abstract
Genomic research remains disproportionately focused on individuals of European ancestry, resulting in discoveries and therapeutics that lack generalizability across global populations. This imbalance limits variant identification, weakens pharmacogenomic insight, and risks reinforcing health disparities. Addressing this challenge requires infrastructure designed to securely engage and activate data from underrepresented populations.
GeneVault is a federated discovery platform that enables secure, privacy-preserving access to distributed genomic datasets without centralizing sensitive individual-level data. Built on the GA4GH Beacon v2 protocol, GeneVault supports harmonized discovery queries across multiple jurisdictions while ensuring data custodians retain sovereignty and comply with local governance and ethical requirements.
This submission will highlight how GeneVault is onboarding diverse cohorts across India, Indonesia, Oman, Panama, and other low- and middle-income regions, and how Beacon is being used to allow researchers to perform federated variant-level queries in a secure and compliant manner. In a federated framework, data remains within its original institution or jurisdiction, and only aggregate-level results or encrypted intermediary computations are shared. This approach minimizes privacy risks and supports compliance with local consent and governance constraints, particularly important in communities with historic mistrust of centralized data repositories.
GeneVault also integrates an incentive model that compensates data custodians while enabling researchers and biopharma partners to access broader, ancestrally diverse data signals. By aligning incentives—offering cohorts financial benefits and granting companies enhanced statistical power for discovery—GeneVault fosters a mutually beneficial ecosystem.
By aligning GA4GH standards with real-world engagement of data custodians, GeneVault advances the use of federated Beacon infrastructure as a key enabler of equitable genomic research. Future extensions include integration of federated Trusted Research Environments (TREs) to support secure analytics beyond discovery. By operationalizing diversity as a scientific and ethical imperative, GeneVault contributes to more inclusive, impactful, and globally relevant genomic precision medicine.
GeneVault is a federated discovery platform that enables secure, privacy-preserving access to distributed genomic datasets without centralizing sensitive individual-level data. Built on the GA4GH Beacon v2 protocol, GeneVault supports harmonized discovery queries across multiple jurisdictions while ensuring data custodians retain sovereignty and comply with local governance and ethical requirements.
This submission will highlight how GeneVault is onboarding diverse cohorts across India, Indonesia, Oman, Panama, and other low- and middle-income regions, and how Beacon is being used to allow researchers to perform federated variant-level queries in a secure and compliant manner. In a federated framework, data remains within its original institution or jurisdiction, and only aggregate-level results or encrypted intermediary computations are shared. This approach minimizes privacy risks and supports compliance with local consent and governance constraints, particularly important in communities with historic mistrust of centralized data repositories.
GeneVault also integrates an incentive model that compensates data custodians while enabling researchers and biopharma partners to access broader, ancestrally diverse data signals. By aligning incentives—offering cohorts financial benefits and granting companies enhanced statistical power for discovery—GeneVault fosters a mutually beneficial ecosystem.
By aligning GA4GH standards with real-world engagement of data custodians, GeneVault advances the use of federated Beacon infrastructure as a key enabler of equitable genomic research. Future extensions include integration of federated Trusted Research Environments (TREs) to support secure analytics beyond discovery. By operationalizing diversity as a scientific and ethical imperative, GeneVault contributes to more inclusive, impactful, and globally relevant genomic precision medicine.
Digital Poster