Work

P137: Engaging participants in data sharing enables exploration of dual diagnoses*

Year: 2024

Type: article

Abstract: Collecting and sharing variant and phenotypic data is integral in understanding gene-disease relationships and variant pathogenicity. Many laboratories are sharing aggregate variant data with databases including NCBI’s ClinVar but are unable to share detailed clinical information or indicate if additional variants were identified. Laboratories are currently limited in their ability to share case-level data for numerous reasons including a lack of explicit consent to do so. The Clinical Genome Resource’s (ClinGen) patient registry, GenomeConnect, engages participants who have had clinical genetic testing in de-identified, case-level data sharing.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101034

Authors: Caitlin Cooney, Juliann Savatt, Erin Riggs, Christa Martin

Institution: Geisinger Health System

Language: English

Topic: Ethics in Clinical Research

Subfield: Public Health, Environmental and Occupational Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200