P590: Unique outcomes from curated genome sequencing for newborn screening: Challenging results from the Early Check project
Year: 2025
Type: article
Study design: Observational Study
Abstract: A current challenge facing newborn screening programs is if and if so, how to further incorporate genetic testing and sequencing technologies. Early Check is a voluntary, consented newborn sequencing research program available to infants who have received standard newborn screening (NBS) in North Carolina. The goals of this study include: 1) informing policy and possible transition to standard newborn screening and 2) assessing the outcomes and impact of this sequencing and confirmatory testing on infants and their families.
Source: Genetics in Medicine Open
Authors: Jennifer Sullivan, Elizabeth Jalazo, Cynthia Powell, Heidi Cope, Ana Forsythe, Katerina Kucera, Scott Shone, Holly Peay
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4408532188