The Clinical Genome Resource (ClinGen) collaborates with laboratories, researchers, clinicians, and patients to promote broad sharing of genomic and phenotypic data to inform variant classification and gene–disease validity. ClinGen has facilitated patient data sharing through its patient registry, GenomeConnect, since 2014. The registry is open to anyone who has undergone genetic testing, and, to date, has shared 969 sequence variants with ClinVar. These efforts have resulted in 491 (51%) previously unsubmitted sequence variants being added to ClinVar, 18 variant classification updates being identified and shared with interested participants, and numerous requests for additional information from clinicians and researchers. Given GenomeConnect’s success in engaging patients in the genomic data sharing process, we wanted to make those same opportunities available to patients participating in other registries who are not currently sharing data.
These external registries, many of which are disease-specific, can have ClinGen genetic counselors review participant genetic test reports to ensure standardized data collection and submit de-identified data from participants that opt to share with databases, such as ClinVar. Registry participants control their participation in data sharing efforts via an online consent within their registry. Those that opt to share are asked to upload a copy of their genetic testing report to their account, may be invited to complete additional surveys, and are provided with the option to receive updates regarding the reporting laboratory’s interpretation of their variant. Since July 2018, three registries have begun recruiting participants into data sharing efforts – Association for Creatine Deficiencies, Cardio-Facio-Cutaneous Syndrome (CFC) International, and CureCADASIL. From these registries, 67 participants have opted to share data and 44.8% (n=30/67) have uploaded their genetic testing report. From these 30 participants, a total of 49 variants were shared, of which 55.1% (n=27/49) were novel to ClinVar. Of variants that were previously submitted by the reporting laboratory, 14% (n=2/14) were out of date compared to the current submission. Both participants have opted to receive updates regarding their results and will be informed of the update via email. Patient data sharing contributes valuable information to the public knowledge base that may not be otherwise available, benefiting both patients and the genetics community.
