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.

Keywords: ClinGen; ClinVar; genomic data sharing; matchmaking; patient registry; variant interpretation.

Figure 1.

GenomeConnect participation process. The figure depicts the steps GenomeConnect participants engage in while enrolling in the registry, data collection methods, and ongoing engagement.

Figure 2.

Previous ClinVar records of the 731 sequence variants submitted or prepared for submission by GenomeConnect. These 731 variants were shared by 424 GenomeConnect participants.

Figure 3.

GenomeConnect Report and ClinVar Submission Interpretation Discrepancies. A: Discrepancies between the participant’s report and the reporting laboratory. Major category discrepancies are defined as those differences between the three main classification categories 1) “pathogenic (P)/likely pathogenic (LP)”, “uncertain significance (VUS)”, and “benign (B)/likely benign (LB).” Confidence discrepancies are differences between Pathogenic and Likely pathogenic or Benign and Likely benign. B: Discrepancies between the participant’s report and other submitting laboratories.

Figure 4.

Informing GenomeConnect participants about variant discrepancies in ClinVar. A: Process of providing updates if the participant’s report is out of date compared to the laboratory’s current ClinVar submission. Updates are provided if the participant opts in to receiving them and the reporting laboratory’s interpretation is out of date on the participant’s report. An email is first sent to the reporting laboratory and then an email is sent to the participant referring them back to their healthcare provider and encouraging them to upload any genetic test results they may receive. B: Updates are not provided if discrepancies are only identified between the participants’ report and other submitters.