DNA Sequencing at Birth: the BabySeq Project
October 13, 2015 | Terry Sharrer
Since 1970, virtually every baby born in the US has undergone screening with Guthrie tests (a protein analysis of neonate blood) for up to 48 inborn errors of metabolism. Genetic sequencing now could expand the screen to 1,700 disorders, and in a cost/ benefit trial, NIH is funding the BabySeq project which will enroll 480 babies at Brigham and Women’s Hospital and Boston Children’s’ Hospital and then do DNA sequencing screens on half of them (the other half are controls who only will have Guthrie tests), with follow up tracking for at least five years. The focus for this is early childhood diseases, rather than on DNA variants which could predict illnesses arising decades later. MORE
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