Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks
Nina B. Gold, Hana Zouk, Julie Yeo, Stuart R. Lipsitz, Satoshi Koyama, Harini Somanchi, Emma F. Perez, Margaret Sunitha Selvaraj, Lauren O’Grady, Emily Miller, Anna C. F. Lewis, Elizabeth W. Karlson, Alanna Strong, Jessica I. Gold, Heidi L. Rehm, , Robert C. Green
The paper estimates penetrance of disease variants in genes prioritized for genomic newborn screening using adult biobank data, finding higher penetrance than ICD codes suggest.
medRxiv · Jun 12, 2026 · PreprintGenetic & Genomic Medicine