Genomics and Newborn Screening: Perspectives of Public Health Programs.

ABSTRACT: This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (NBS) from the perspectives of State program officials. This project aims to help programs develop policies that will aid in the integration of genomic technology. Discussion groups were conducted with the NBS Program and Laboratory Directors in the seven HRSA Regional Genomics Collaboratives (August 2014-March 2016). The discussion groups addressed expected uses of genomics, potential benefits, and challenges of integrating genomic technology, and educational needs for parents and other NBS stakeholders: Twelve focus groups were conducted, which included participants from over 40 state programs. Benefits of incorporating genomics included improving screening modalities, supporting diagnostic pr

SUBMITTER: Goldenberg AJ 

PROVIDER: S-EPMC8883997 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature