P668: Challenges in newborn sequencing: Classification of variants with measurable biological dysfunction but limited clinical significance
Abstract
Variant interpretation is a cornerstone of clinical laboratory genomics, guided by the American College of Medical Genetics and Genomics (ACMG) framework, which classifies variants into five categories: pathogenic, likely pathogenic, uncertain significance, likely benign, and benign. However, the expansion of newborn genomic sequencing reveals a subset of variants that challenge this framework—those with impaired biochemical function or reduced enzymatic activity (often identified by newborn screening laboratory testing) but without clear evidence of clinical disease.
Fields of Study & Subjects
Genomics and Rare Diseases
Metabolism and Genetic Disorders
Prenatal Screening and Diagnostics
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104158–104158
- Publication date
- 1 January 2026
- Language
- EN