Expansion of clinical genetic testing since the completion of the human genome project
Lisa A. Bastarache, Rory James Tinker, Bryce A. Schuler, Lucas D. Richter, John A. Phillips, William W. Stead, Gillian W. Hooker, Josh F. Peterson, Douglas M. Ruderfer
This study quantifies the expansion of clinical genetic testing at Vanderbilt University Medical Center from 2002 to 2022, showing increased testing rates, broader disease coverage, and a growing number of variants of uncertain significance.
medRxiv · Oct 17, 2024 · PreprintGenetic & Genomic Medicine