Category: rare pathogenic variants

Population Screening for Rare Pathogenic Variants as the Low Hanging Fruit for Public Health Genomics Across the Lifespan

a family with a tree of DNA with low hanging circles of people and many different hands reaching to them

Rapid advances in human genome sequencing technologies have accelerated the integration of genomics into clinical practice. Genomics has demonstrated clinical utility as a diagnostic tool for certain diseases, but its potential for population screening is still work in progress. In principle, DNA-based population screening can identify persons with rare pathogenic variants who are at high Read More >

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia1 CommentTags