Project VIGOR: Lifesaving Answers for NICUs

Genome sequencing has proven its value many times over, particularly in the neonatal intensive care unit (NICU). Rapid sequencing can identify underlying genetic conditions, leading to precise diagnoses and effective treatments for newborns with very serious medical conditions.

But genomics is not yet a plug-and-play solution. Hospitals need infrastructure and expertise to make it work. The requirements for effective genome sequencing have created to a two-tiered system. Major academic teaching hospitals have the resources to get it done. Small community hospitals generally do not.

In an effort to level the playing field, Pankaj Agrawal, M.D., chief of the Division of Neonatology in the University of Miami Miller School’s Department of Pediatrics, and colleagues at Boston Children’s Hospital and elsewhere created the Virtual Genome Center for Infant Health (VIGOR).

Virtual Genome Sequencing

In a paper published in the journal BMJ Open, the VIGOR team assessed the project’s challenges and potential rewards, highlighting how these efforts could model future sequencing protocols in community hospitals.

“Many of these hospitals have no genomics capabilities at all,” said Dr. Agrawal. “They don’t have the expertise to determine which patients can benefit from sequencing, cover the costs, interpret the findings or communicate those results to families. Through VIGOR, we are working to fill that gap through virtual consultations, education and other support. We want all NICU babies to have access to this critical technology.”

Many rare genetic diseases present in a very similar manner, making it difficult to rapidly diagnose the underlying causes. Genome sequencing can provide precise insights into a disease’s genetic underpinnings, saving precious time. VIGOR wants to make genome sequencing available to all NICU babies.

The project currently supports nine hospitals, helping local clinicians identify patients, perform sequencing and interpret results so they can make correct diagnoses and pursue effective care plans.

“There are multiple layers to how we support NICU care for patients with potential genetic disorders,” said Dr. Agrawal. “We diagnose about a third of the cases, which is a good start. This is the first time anyone has used telehealth to support genomics in these underserved communities, and it’s been quite successful.”

Connecting Sick Newborns with Treatments

The project is also connecting patients with potential treatments and providing information about relevant gene variations, as well as clinical trials and other resources.

“If there is a specific treatment that can be beneficial, we provide that option,” said Dr. Agrawal. “We also help them get in touch with a genetics team that will follow the child in the future, connecting them with the right people for effective follow-up.”

The paper notes a significant gap between research and practice. While rapid genome sequencing has been proven effective in multiple studies, it takes time for these findings to be accepted by the larger clinical community. The National Institutes of Health funded VIGOR specifically to overcome this gap.  

“We have learned that it is not easy to address these systematic issues,” said Dr. Agrawal. “But as neonatologists and geneticists see these benefits, they often try to push them forward in their institutions. When someone experiences, firsthand, how a diagnosis really changes the course of an infant’s care, it is really eye opening.”

Tags: Department of Pediatrics, Division of Neonatology, Dr. Pankaj Agrawal, genomics, neonatology, VIGOR