BRIDGES-NBS selects 777 condition entries for genomic newborn screening
BRIDGES-NBS selected 777 condition entries associated with 743 genes for a study testing whether genome sequencing can be integrated into newborn screening across multiple U.S. states and territorial public health laboratory programs. Clinical experts, laboratory programs, community representatives and National Institutes of Health project leadership helped revise the list. Most entries concerned inherited disorders affecting immunity, metabolism or hormones. Nearly all condition entries (93.3%) can be confirmed using a non-genetic test. The list also includes one copy number variant, a change in the number of copies of a DNA segment, and two aneuploidies, conditions involving abnormal chromosome counts.
The shared list enables participating public health laboratories to evaluate the feasibility of population-wide genomic newborn screening.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].