Machine learning model guides smarter gene selection in newborn screening

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.

Improving newborn genetic 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 highlights the substantial variability in gene selection among those programs.

Invest in screening Arizona newborns for fatal muscular disease

I wish I had known when my son Ian was born in 2005 that a gene mutation impaired his muscle cell system. Instead, we spent years visiting specialists, wondering why our oldest struggled to hold his head up, crawl, walk and keep up with peers. Though I knew something was wrong, no one would listen. I began to think maybe the doctors were right. Reassured our oldest was healthy, we had a second child, Jackson, in 2008. Not until Ian was 3 1/2-yea…

Machine learning brings consistency to newborn genetic 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.