First BabySeq Results are Out – But is the Testing Worth It?
The first results of the BabySeq Project, a study to determine whether deep dives into infant DNA could uncover more diseases, and whether making this procedure routine after childbirth would be worth it, have been published. Among other things, researchers found that in just under 10% of the babies tested, newborn sequencing revealed variants which increased the risk of certain conditions. These were largely related to heart conditions or hearing loss, which standard screenings do not locate.
In the study, the protein-coding portions of 159 newborns’ genomes were sequenced, 127 of which were healthy and 32 of which were in the neonatal intensive care unit. The researchers found that 15 children had a genetic risk of a childhood disease or a disease that could be managed during childhood.
Additionally, 85 families agreed to have the researchers search their babies’ genomes for variants tied to adult-onset diseases, with three cases found.
The BabySeq scientists only reported genetic variants which they were certain would raise the risk of a disease that could affect a child, or could be addressed during childhood, to families. Variants whose influence was unknown were excluded from results.
The families who took part in the BabySeq project will continue to be monitored to track how knowledge of this genetic information affects them over time.
The researchers said that there is definitely value in deep DNA screening of newborns. Alan Beggs, director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital, said: “My personal opinion is that probably in the not too distant future, most individuals will get sequenced at a really early point in their life.
“Now the question is, how does this impact people over time? And do the benefits of having access to this information outweigh the costs?”