Medical Evaluation of Unanticipated Monogenic Disease Risks Identified through Newborn Genomic Screening: Findings from the BabySeq Project
Robert C. Green, Nidhi D Shah, Casie A. Genetti, Timothy W. Yu, Bethany Zettler, Talia S. Schwartz, Melissa Kurtz Uveges, Ozge Ceyhan‐Birsoy, Matthew S. Lebo, Stacey Pereira, Pankaj B. Agrawal, Richard B. Parad, Amy L. McGuire, Kurt Derek Christensen, Heidi L. Rehm, , the BabySeq Project
The paper evaluates unanticipated monogenic disease risks found in newborns through genomic screening, finding most risks are actionable and lead to medical interventions.
medRxiv · Mar 18, 2022 · PreprintGenetic & Genomic Medicine