Katherine C. Anderson

This study surveys U.S. genetic counselors about the impact of the 21st Century Cures Act Final Rule on their practice and patient outcomes, finding differences in concerns between ordering and non-ordering providers.

The paper validates an in vitro SCN5A Brugada Syndrome assay to reclassify variants of uncertain significance as pathogenic or benign.

This study compares how clinical genetics labs in different countries represent race, ethnicity, and ancestry on test requisition forms, finding significant differences in data collection practices.