ClinGen's GenomeConnect registry enables patient‐centered data sharing

Abstract

GenomeConnect, the NIH-funded Clinical Genome Resource (ClinGen) patient registry, engages patients in data sharing to support the goal of creating a genomic knowledge base to inform clinical care and research. Participant self-reported health information and genomic variants from genetic testing reports are curated and shared with public databases, such as ClinVar. There are four primary benefits of GenomeConnect: 1) sharing novel genomic data - 47.9% of variants were new to ClinVar, highlighting patients as a genomic data source; 2) contributing additional phenotypic information - of the 52.1% of variants already in ClinVar, GenomeConnect provided enhanced case-level data; 3) providing a way for patients to receive variant classification updates if the reporting laboratory submits to ClinVar – 97.3% of responding participants opted to receive such information and 13 updates have been identified; and 4) supporting connections with others, including other participants, clinicians, and researchers to enable the exchange of information and support - 60.4% of participants have opted to partake in participant matching. Moving forward, ClinGen plans to increase patient-centric data sharing by partnering with other existing patient groups. By engaging patients, more information is contributed to the public knowledge base, benefiting both patients and the genomics community.

Strategic vision for improving human health at The Forefront of Genomics

“…Implementation science approaches are needed to identify the most effective methods and strategies for facilitating the use of evidence-based genomic applications, most notably pharmacogenomics-based selection of medications 90 , in routine clinical care. New experimental designs, such as genotype-specific participant recruitment 91 or integration of patient-provided genomic data 92 (captured during previous healthcare encounters or from DTC sources), should be explored for their potential to speed adoption and limit costs. The effectiveness of centralized resources for genomic referrals (for example, genomic medicine specialists, consult services 93,94 , and centres of excellence in undiagnosed diseases-akin to transplantation centres or cancer centres) should be explored as potential steppingstones to the more generalized uptake of genomics in clinical care.…”

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation

“…To assess the performance of GeneTerpret, we did a performance assessment in two ways. First, we used two well-established external resources (ClinGen database 17,18 for testing clinical validity modules and DECIPHER database 19 for testing the variant pathogenicity module independently), and secondly, our expert-interpreted internal datasets composed on a Tetralogy of Fallot (TOF) cohort 20 and Cardiac Genome Clinic (CGC) families 21 .…”

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

“…A potentially powerful approach to understanding the complex phenotypic spectrum of 16p13.11 microduplication syndrome is to collect phenotypic data from patients themselves (or their caregivers), as they experience the symptoms and effects of their condition. GenomeConnect, the National Institutes of Health-funded Clinical Genome Resource (ClinGen) patient registry, developed a patient self-phenotyping survey, which asks patient-friendly questions that have been mapped to a set of high-level human phenotype ontology (HPO) terms [9][10][11]. HPO is a standardized vocabulary of phenotypic abnormalities encountered in human disease, whereby symptoms and characteristic phenotypic findings (a phenotypic profile) are captured using a logically constructed hierarchy of phenotypic terms [12,13].…”