Close
Enter your
text here

Genomics Testing in the Neonatal Intensive Care Unit: Reducing Variability, Improving Utility

Genomics Testing in the Neonatal Intensive Care Unit: Reducing Variability, Improving Utility 1024 575 Katie Brind'Amour, PhD, MS, CHES

Genomics testing of infants in the neonatal intensive care unit (NICU) has the potential to improve care, but process improvement efforts require consideration of major differences in hospital resources.

Babies with genetic conditions make up a significant number of the infants in pediatric and neonatal intensive care units (NICUs), but knowing which babies are sick due to genetic disorders as opposed to other disease processes is a major clinical challenge. Genomics testing can offer valuable insight, but the tests can be expensive and slow, making it essential to identify appropriate candidates for testing and remove barriers to prompt, actionable results.

Two years ago, a study published in Genetic Medicine highlighted the need for increased standardization in identifying appropriate NICU candidates for genomic testing. The study revealed that, even among Level IV NICUs belonging to the Children’s Hospitals Neonatal Consortium (CHNC), fewer than half of responding sites had access to same-day genetics consultations, and fewer than 70% had access to results from genome or exome sequencing studies within a 2-week turnaround.

“The survey revealed all the inter-center variation in program delivery and decision-making that together go into making a service,” says Bimal Chaudhari, MD, MPH, neonatologist, medical geneticist and translational informaticist at Nationwide Children’s Hospital and chair of the Children’s Hospital’s Neonatal Consortium Genomics Focus Group that published the survey. “It is one of the CHNC’s missions to describe variation in care in ICUs that seemingly have a lot in common, which we can then use as a jumping off point to advance care through standardization and harmonization.”

Dr. Chaudhari believes the survey revealed some universal lessons—such as the fact that centers using medical gatekeepers identified patients faster and more appropriately than hospital utilization committees—as well as some opportunities for further investigation. Because of the different NICU sizes and variation in available resources, for example, solutions to speed up identification of appropriate patients for testing will also have to vary.

Many hospitals must send away their samples to off-site (even out-of-state) labs, and do not have enough clinical staff to give each NICU patient prompt consideration for genomics testing. Proposed solutions to speeding up patient identification and approval for testing include both automated and personnel-based methods.

One approach, which may also result in a reduction in disparate testing according to race and ethnicity, is to ask on daily rounds whether a non-genetic cause can be identified for each NICU patient. If not, the patient is eligible for genomics assessment and possible testing. While this method may not be practical for large NICUs like the 114-bed unit at Nationwide Children’s, alternative solutions may be: Nationwide Children’s is currently implementing a staff-based solution wherein a medical geneticist screens new admissions each day to directly identify potential cases for testing and follow-up.

Another option developed by Dr. Chaudhari, who is also a principal investigator in the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s, is an artificial-intelligence (AI)-based tool that screens medical records to identify babies with early indications that genomics testing may be appropriate. To date, he has trained the model using retrospective medical records, with the intent to test it prospectively in the coming year. Other researchers are also developing AI algorithms to improve patient prioritization.

“Where variation exists, it should be medically justified variation and not idiosyncratic variation, which is what the first survey revealed,” says Dr. Chaudhari. “There is emerging research talking about these implementation strategies and highlighting the perils and pitfalls of different approaches.”

The CHNC’s annual symposium, held this November in Denver, will now be preceded by a day-long workshop to collect and present best practices for the implementation of genomic medicine. After the symposium, the committee will repeat the survey published in 2023 to see how practices and services have changed, and where variation remains.

Reference:

  1. Antoniou AA, McGinley R, Metzler M, Chaudhari BP. NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates. medRxiv [Preprint]. 2024 Jun 25:2024.06.24.24309403. doi: 10.1101/2024.06.24.24309403. PMID: 38978650; PMCID: PMC11230343.
  2. Wojcik MH, Callahan KP, Antoniou A, Del Rosario MC, Brunelli L, ElHassan NO, Gogcu S, Murthy K, Rumpel JA, Wambach JA, Suhrie K, Fishler K, Chaudhari BP. Provision and availability of genomic medicine services in Level IV neonatal intensive care units. Genet Med. 2023 Oct;25(10):100926.

Image credit: Adobe Stock

About the author

Katherine (Katie) Brind’Amour is a freelance medical and health science writer based in Pennsylvania. She has written about nearly every therapeutic area for patients, doctors and the general public. Dr. Brind’Amour specializes in health literacy and patient education. She completed her BS and MS degrees in Biology at Arizona State University and her PhD in Health Services Management and Policy at The Ohio State University. She is a Certified Health Education Specialist and is interested in health promotion via health programs and the communication of medical information.

You might also like