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 t

SUBMITTER: Savatt JM 

PROVIDER: S-EPMC8463499 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature