Through an effort led by Wisconsin’s two medical schools, newborn genomic testing capacity will expand to more hospitals throughout the state, allowing rapid diagnosis of rare genetic conditions and improved medical management for critically ill newborns.
In Wisconsin, about 2,000 infants are born each year with a rare genetic disorder, comprising 20% to 30% of patients in Level IV neonatal intensive care units, or NICUs. These infants typically require longer hospital stays, require highly specialized care and face a lifetime of medical challenges. Faster diagnosis helps the medical team tailor care and provides essential information to families.
Prior to this initiative, rapid genomic testing was most readily accessible at Children’s Wisconsin in Milwaukee, and American Family Children’s Hospital in Madison. The new effort plans to expand rapid genomic testing to six smaller NICUs scattered across Wisconsin.
Evidence shows that diagnostic speed is critical in the NICU, according to Dr. Jessica Scott Schwoerer, associate professor of pediatrics, Medical College of Wisconsin, and medical geneticist, Children’s Wisconsin.
One analysis showed that being able to diagnose on the third day of life changed the NICU team’s treatment plan about half the time. Multiple studies have shown that the sooner testing is performed, the more likely it is to inform a diagnosis, affect medical management and help providers and families make informed medical decisions.
Genomic testing is a way of examining an individual’s entire genetic information, helping to identify rare disorders and better understand the individual’s health care needs. Additionally, it can offer a path to potential treatment as future research discoveries lead to more clinical options, according to Scott Schwoerer.
“There is difficulty getting genomic testing in Wisconsin,” she said. “In an ideal world, I would want it to be available to any individual who would benefit from genomic testing.”
In 2023, Scott Schwoerer and April Hall, genetic counselor and assistant professor of pediatrics, University of Wisconsin School of Medicine and Public Health, began assessing how to bring whole genome and whole exome testing to additional hospitals across the state. In early 2024, the idea was brought to reality thanks to a grant from the Advancing A Healthier Wisconsin Endowment. The resulting collaboration was dubbed the Baby Badger Network.
A total of $50,000 was granted to build a network with two pilot sites, Aurora BayCare and HSHS St. Vincent Children’s Hospital, both in Green Bay. Launch of the Baby Badger Network allowed these sites to optimize workflows for quickly identifying circumstances when genomic testing should be ordered, and to provide education to health care professionals who do not have advanced training in human genetics. Participating sites also had increased access to genetics experts.
Prior to this network being established, very few genomic tests were being ordered in the 16 Level III NICUs in the state, according to Hall.
“Bringing this capability outside the walls of Children’s Wisconsin and American Family Children’s Hospital, could help improve the lives of these babies and their families,” she said.
Hall and Scott Schwoerer intend to expand the program to six additional sites in July, including Gunderson Health System in La Crosse, Marshfield Children’s Hospital, Children’s Wisconsin Fox Valley Hospital, Bellin Hospital in Green Bay, Aurora Sinai Medical Center in Milwaukee and Aurora West Allis Medical Center.
“Working with the two initial sites was a great collaboration because they were able to learn from us, and we were able to learn from them,” Hall said. “We are excited to take what we’ve learned and bring it to the rest of the state.”
