Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry

Abstract

Purpose: Variant classifications and gene–disease relationships may evolve. Professional societies have suggested patients share the responsibility to remain up-to-date on the implications genetic results have on their health, and that novel methods of recontact are needed. GenomeConnect, the ClinGen patient registry, has implemented a process to provide variant classification and gene–disease relationship updates to participants. Here, we report on our experience with this recontacting process. Methods: GenomeConnect shares data with ClinVar and Matchmaker Exchange enabling the identification of updates to variant classifications and gene–disease relationships. For any updates identified, the reporting laboratory is contacted, and updates are shared with participants opting to receive them. Results: Of 1,419 variants shared with ClinVar by GenomeConnect, 49 (3.4%) variant reclassifications were identified and 34 were shared with participants. Of 97 candidate genes submitted to Matchmaker Exchange, 10 (10.3%) gene–disease relationships have been confirmed and 9 were shared with participants. Details available from a subset of participants highlight that updated information is not always shared with the patient by testing laboratories. Conclusion: Patient registries can provide a mechanism for patients and their providers to remain informed about changes to the interpretation and clinical significance of their genetic results, leading to important implications for care. Graphical Abstract: [Figure not available: see fulltext.].