Solving Mysteries for the Infants Who Need It Most

A new model brings the latest genomic services and education to underserved NICUs.

When a newborn has seizures, trouble swallowing, poor muscle tone or other signs of an underlying health issue, parents and doctors urgently want to know why. Genetic testing can provide an answer for up to 6 in 10 families. However, physicians in many areas across the United States and globally cannot readily order these sophisticated and expensive services.

“This level of genetic testing is out of reach for most patients because it’s not necessarily covered by insurance, and also because most neonatal intensive care units (NICUs) lack the in-house expertise to decide who to test or to interpret the results,” says Pankaj Agrawal, MD, MMSc, director of Boston Children’s Neonatal Genomics Program.

These barriers are even more daunting in under-resourced communities. Vineet Bhandari, MD, DM, head of Neonatology at the Children’s Regional Hospital at Cooper in Camden, New Jersey, says detecting a genetic cause “right from the get-go matters, because some conditions are life-threatening, and we can intervene early.” However, the arduous process of fighting insurance companies to cover genetic analysis—combined with the need to consult outside experts to interpret often complicated results—means it takes several weeks to get a clear clinical picture for even those few infants approved to receive testing.

So, when Dr. Bhandari heard about a new telemedicine project that will both expand access to advanced genetic sequencing and return answers within days, he seized the opportunity to participate.

Dr. Agrawal and colleagues Timothy Yu, MD, PhD, at Boston Children’s and Margaret Parker, MD, at Boston Medical Center secured a five-year, $5 million federal grant to study if virtual access to sophisticated genetic testing can improve care for babies. Their Virtual Genome Center (VIGOR) will bring advanced genomic services and education to four NICUs serving low-income, diverse communities in Massachusetts and New Jersey.

“In addition to providing the exome sequencing, we also will provide feedback to local neonatologists on what we discover,” says Dr. Agrawal. The VIGOR team’s report to community NICUs will include the baby’s expected medical outcome, information for counseling the family about having additional children and any suggested changes to care. The team’s recommendations can be life-changing; for example, a particular medication can be most effective in controlling seizures in newborns with a certain genetic mutation.

Dr. Bhandari says he sees about 16 babies who would benefit from genetic testing during a typical year, so the five-year telemedicine project will help provide rapid answers to some 80 babies and families at his hospital alone. “We will relieve a lot of worry by helping parents understand what to expect for their child’s future and any siblings’ health.”

Over the course of the project, the researchers will follow 250 infants for six months to track each newborn’s health outcomes and learn how the genetic information affects families and neonatologists.

Now that the VIGOR model has launched, the team is eager to share it with other underserved communities. “Soon, we hope to reach out to several NICUs in Texas and others around the world,” says Dr. Agrawal.