Riley Children’s Health first to offer comprehensive Perinatal Genomics Program for critically ill newborns

The Perinatal Genomics Program at Riley Children’s is the first program of its kind in the nation to offer comprehensive clinical care, education and research for neonatal genetic disease.

The first step towards better patient outcomes is to get at the root cause of the problem. For many NICU patients that means making a genetic diagnosis. “With rapid whole genome sequencing, we’re able to make better clinical decisions about such things as targeted therapies, breathing and feeding support, and surgery to address congenital anomalies,” said Kristen R. Suhrie, MD, neonatal-perinatal medicine specialist and medical director of the program. “Results of this testing, whether positive or negative, help us determine the best path forward for these newborns—and for families, our comprehensive program provides a more thorough understanding of their child’s condition, guidance on care and even insight on future family planning.”

Dr. Suhrie, in collaboration with Riley colleagues in neonatology and genetics, developed a set of guidelines to aid clinicians in recognizing symptoms that may signal a genetic condition. When one or more of these symptoms is identified, the neonatologist consults with Riley geneticists. From there, the specialists determine whether whole genome sequencing or some other type of genetic testing is needed to help identify a root cause.

Since the guidelines were implemented in May 2022:

• 173 genetic diagnoses were made: 45% resulting from whole genome sequencing.
• 289 babies received whole genome sequencing (out of 1,503 babies treated in the three NICUs at Riley Children’s).
• Genetic disease detection rate increased 71% from 7% to 12%.
• Length of hospital stay decreased by 17 days for those patients that received a genetic diagnosis.

“Looking at the historical data, we’ve made a dramatic difference with this program in a short period of time,” Dr. Suhrie said. “We’re in the process of doing a thorough statistical analysis and are preparing to submit our findings for publication later this year.”

Additionally, Dr. Suhrie has formed a focus group within the Children’s Hospitals Neonatal Consortium to promote discussion and collaboration about the impact of genetic disease on NICU patients and the role and benefit of whole genome sequencing in this population.

“We feel it’s important not only for newborns at Riley Children’s to get this type of care, but for this to be implemented in NICUs across the country,” Dr. Suhrie explained. “We’re working to share what we’re doing with colleagues at other centers because we’re getting such amazing results and wonderful feedback from our families.”

In addition to family-focused care and support from other NICU parents, the Perinatal Genomics Program offers precision therapeutic care based on the genetic diagnosis and access to the Undiagnosed Rare Disease Clinic at Indiana University School of Medicine. This highly specialized clinic, launched in 2020, focuses on uncovering genetic answers when clinical testing is negative.

“Our program helps prevent many families from enduring what we call a “diagnostic odyssey” where they start their journey in the NICU but may not get a genetic answer for years,” Dr. Suhrie said. “That whole time they’re wondering what might be next and what other health problems may arise. Getting a genetic diagnosis early helps inform care and increase understanding of why their child has these medical issues and what to look out for in the future.”

The Perinatal Genomics Program at Riley Children’s Health is part of a nationally ranked Neonatology program that delivers specialized, evidence-based care to neonates in need of lifesaving services. Home to a Level IV NICU providing the highest level of care, Riley Children’s is No. 8 out of 46 U.S. centers* in the number of comorbidities present on admission, reflecting the complexity of the hospital’s NICU patient population.

*Children’s Hospitals Neonatal Consortium database