Will Whole Genome Sequencing of Infants Be the New Normal?

Led by a physician scientist who has trained as a geneticist, researchers at Brigham and Women’s Hospital and their collegaues in Boston Children’s Hospital have started collecting blood samples from newborn infants with the intent to sequence their entire genome—not just to quiz for congenital disorders as has been the practice for decades.

The BabySeq project is a randomized controlled trial, the first of its kind, which expects to enroll healthy infants at Brigham and Women’s Hospital and those in the neonatal ICU at Boston Children’s Hospital (240 in each cohort) during a 5 year period till 2018. The DNA of only half the babies in each group will be entirely sequenced and screened for 1700 variants of genes associated with childhood-onset diseases. All the families who enroll in the project will receive the services of a genetic counselor and will also consult with the study physician. The outcomes measures of the project include the effect of sequencing on the infants healthcare, healthcare utilization, influence on the parent’s if any, and parent-child bonding.

According to Robert Green, MD, MPH, the co-lead on this project, lack of consensus on the impact of populationwide genomic sequencing resulted in the initiation of this trial.

“I think it starts asking the right questions,” said Muin Khoury, MD, PhD, director of the CDC’s Office of Public Health Genomics. “The whole ethical ramification of this is that newborns have no choice to make, so parents have to make that decision for them.” Khoury, however, would like to see more genomic data on the adult population that would correlate mutations with genetic disorders, before seeing widespread use in infants and children.

While 4 babies who have been enrolled so far will be followed till they are 3 years old, when the existing funding period ends, the team has plans to seek assent from the children at 13 years and consent at 18 years if they secure long-term funds for BabySeq. The question though would be how do you use the information? Some of this genomic information could be used to successfully monitor the children and treat them as necessary, while other information may not be actionable.

“I think the more important point is that we’re very much talking about a model where people have that choice, and many people would choose differently for perfectly legitimate reasons,” says Green.

Read more on the National Human Genome Research Institute website.