Gillian W. Hooker

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.

The paper develops and validates the Vanderbilt PRS-KS, a tool to measure knowledge of polygenic risk scores, showing it correlates with genetic knowledge and is more accurate for healthcare students.

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.

The paper highlights the lack of standard definitions and protocols for collecting and using race, ethnicity, and ancestry data in clinical genetics and precision medicine.