Machine learning model guides smarter gene selection in newborn screening

More than a decade ago, researchers launched the BabySeq Project, a pilot program to return newborn genomic sequencing results to parents and measure the effects on newborn care. Today, over 30 international initiatives are exploring the expansion of newborn screening using genomic sequencing (NBSeq), but a new study by researchers from Mass General Brigham highlights … Read more

Updated screening protocols could improve early diagnosis of cystic fibrosis

All states should adopt updated screening protocols so more newborns with cystic fibrosis can be diagnosed in the first weeks of life, when interventions can have the greatest benefit, according to the Cystic Fibrosis Foundation guidelines published April 2 in the International Journal of Neonatal Screening.  Current newborn screening protocols vary across states. Some states use outdated … Read more

New cystic fibrosis newborn screening guidelines aim for equitable detection

The United States Cystic Fibrosis Foundation released the first guideline on newborn screening for cystic fibrosis (CF), in order to improve timely detection of CF in infants from all racial and ethnic backgrounds. The new guideline, based on systematic literature reviews and published in the International Journal of Neonatal Screening, reflects rigorous scientific investigation and … Read more