Conclusion
Due to the high volumes of DES data generated and the clinical data
curation efforts needed for accurate variant classifications, diagnostic
laboratories are a powerful partner for clinical research initiatives,
especially those involving disease gene discovery efforts. GeneMatcher
is a data-sharing initiative for identifying and collecting
genotype-phenotype paired data for gene-disease characterization and has
been crucial in our laboratory’s gene characterization efforts. In turn,
this has a direct and meaningful impact on the diagnostic rates for
clinical genetic testing both for prospective tests and retrospectively
providing reclassification of variants to previously tested individuals.