This month, doctors in Boston will being the BabySeq project, a trial program conducting whole genome sequencing on 240 healthy babies as well as 240 babies in intensive care. The team will look for genetic mutations that are strongly associated with diseases that begin in childhood. Then, a geneticist and genetic counselor will explain the results to parents and provide them to the child’s pediatrician. Due to the likelihood of genetic information being misinterpreted, parents will only have access to the raw data if they request it, and only after the results have already been explained to them.
The issue of genome sequencing in children and newborns raises a lot of questions, some of which we discussed in a recent video. How will this affect the child’s care by parents and physicians? What results will impact her or his ability to obtain health or life insurance coverage? Are there privacy concerns? How will the child be affected by the removal of her or his right to chose? Will the parent and child want to know about diseases that could occur but for which there is no intervention? And, how far will this testing go?
Since many parents are interested in knowing their children’s genomic health risks, and the technology is making great strides, whole genome sequencing does feel inevitable. With this study researchers are hoping to being exploring the answers to these questions and others in a controlled way so they can deal with issues as they arise.