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

Genet Med. 2021 Sep;23(9):1738-1745. doi: 10.1038/s41436-021-01197-8. Epub 2021 May 18.

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Databases, Genetic
  • Duty to Recontact*
  • Genetic Testing*
  • Genetic Variation
  • Humans
  • Registries