newborn sequencing
The Sunshine Genetics Act would establish a consortium that plans to sequence 10,000 newborns for up to 600 rare conditions.
For just under $3,000, the company analyzes DNA from a child's saliva sample by whole-genome sequencing, screening for genetic variants associated with more than 300 diseases.
At the International Conference on Newborn Sequencing (ICoNS) in London last week, a dozen projects from around the world presented their plans and progress.
ACMG Panel Discusses Potential, Pitfalls of Precision Medicine Following Newborn Screening
The panel focused on access and equity issues of precision medicine, especially ones that arise as sequencing is folded into newborn screening programs.
At ACMG, GUARDIAN Newborn Sequencing Study Reports High Uptake Rate
The researchers have already identified babies with G6PD deficiency who would have been missed by standard newborn screening.