Returning Actionable Genomic Results in a Research Biobank: Analytic Validity, Clinical Implementation and Resource Utilization
Carrie L. Blout Zawatsky, Nidhi D Shah, Kalotina Machini, Emma F. Perez, Kurt Derek Christensen, Hana Zouk, Marcie A. Steeves, Christopher Koch, Melissa Kurtz Uveges, Janelle Shea, Nina B. Gold, Joel B. Krier, Natalie Boutin, Lisa Mahanta, Heidi L. Rehm, , Robert C. Green
This study evaluates the feasibility and costs of returning actionable genomic results from a biobank, finding high false positive rates in genotyping and significant under-testing among at-risk individuals.
The American Journal of Human Genetics · Nov 8, 2021Peer-reviewedGenetic & Genomic Medicine