NEJM Review: Next-Generation Sequencing for Diagnosing Suspected Genetic Disorders

This authoritative NEJM review establishes the clinical framework for using next-generation sequencing -- including targeted panels, whole-exome sequencing, and whole-genome sequencing -- to diagnose suspected genetic disorders. It addresses test selection, variant interpretation challenges, incidental findings, and the integration of genomic results into patient care. The review has become a foundational reference for laboratories implementing clinical NGS workflows.