Just about every day, genetic counselor Shawn Fayer heads to the maternity ward at Brigham and Women’s Hospital in Boston and…[offers] gene sequencing for newborns. It gives parents a tantalizing look at their baby’s genetic information.
If … parents sign him up, [they] would join the BabySeq project, an NIH-funded study led by Dr. Robert Green, a medical geneticist at the hospital, and Alan Beggs at Boston Children’s Hospital. With genetic testing getting cheaper and cheaper, Green wants to figure out what happens when parents know their child’s genetic blueprint from day one.
Half of the babies who join the study will have their protein-coding genes sequenced and screened for variants that are associated with diseases of childhood, with a method called whole-exome sequencing. The other half will get the regular heel-prick blood test offered to all newborns, which screens for major genetic disorders like cystic fibrosis.
Researchers will follow both sets of babies to figure out how genetic sequencing impacts them. They want to find out if knowing the kids’ genetic makeup could actually make them healthier, or if it could increase their health care costs, or even change their relationship with their parents.
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