Expanding Access to Genomic Testing in Level IV Neonatal Intensive Care UnitsExpanding Access to Genomic Testing in Level IV Neonatal Intensive Care Units https://pediatricsnationwide.org/wp-content/uploads/2020/11/Achieving-Clarity-Header-1024x575.jpg 1024 575 Pam Georgiana Pam Georgiana https://pediatricsnationwide.org/wp-content/uploads/2023/07/May-2023.jpg
- October 30, 2023
- Pam Georgiana
Recent study identifies variations in availability and highlights opportunities to improve access to genomic testing in the United States and Canada.
In the Nationwide Children’s Hospital neonatal intensive care unit, patients needing rapid genome sequencing can get it on demand without administrative approval. However, that is not the case in all level IV neonatal intensive care units, according to a recent study published in Genomics in Medicine.
“Level IV neonatal intensive care units provide the country’s highest level of pediatric care. Patients receive world-class care while there, which should include the latest genetic testing,” Bimal P. Chaudhari, MD, MPH explains.
Dr. Chaudhari is a principal investigator in the Steve and Cindy Rasmussen Institute for Genomic Medicine, a member of the Neonatology, Genetics, and Genomic Medicine Departments at Nationwide Children’s, and an assistant professor of pediatrics at The Ohio State University College of Medicine. Dr. Chaudhari also co-chairs the Children’s Hospitals Neonatal Consortium Genomics Focus Group.
“We know that early rapid genome sequencing is cost-effective and beneficial to patients. We also know that many level IV neonatal intensive care units cannot easily access this testing,” he says.
Prior research has documented wide variation in practice and availability of services in level IV neonatal intensive care units, and Dr. Chaudhari says he hears the same thing from colleagues every day.
Dr. Chaudhari worked with the Consortium team to create a survey to find the gap between evidence and practice in level IV neonatal intensive care units in the United States and Canada. His team distributed the survey to 43 level IV neonatal intensive care units in the Consortium, requesting information regarding their ability to provide genomic medicine services. The survey asked about the availability of such services, including personnel and testing resources, scope of practice, and barriers to genomic medicine implementation. Thirty-two of the 43 (74%) hospitals responded to the survey.
“We found that while most genetic tests are available in theory, in practice, many centers can’t get a test in a time frame that is clinically actionable and cost-effective,” Dr. Chaudhari says.
Rapid exome or genome sequencing was available in 69% of the hospitals. Same-day genetics consultative services were limited to 13 hospitals (41%). Access to other non-rapid genome testing was restricted in nearly all centers.
The most often reported barrier to access was requiring specialist approval. The survey also uncovered several process barriers to completing genetic testing, including collecting parental samples and complicated or inaccessible pre-test counseling and consent processes.
The study included a few suggestions to make genetic testing more available in neonatal intensive care units. One recommendation was to train neonatologists with basic genetic counseling skills to improve pre-test counseling and expand access to genetic diagnosis.
The study also suggested that hospitals improve the staffing levels of medical genetics professionals in level IV neonatal intensive care units.
The next steps for the Consortium and Dr. Chaudhari are clear. They recently announced that, as a first step, training in basic genetic counseling skills will be available to attendees of the 2023 Children’s Hospitals Neonatal Consortium Annual Symposium.
“Just because rapid genome testing exists, doesn’t mean it’s available to patients, even in level IV neonatal intensive care units where the burden of genetic disease is significant,” he says. “We need to find ways to overcome the barriers to availability so that critically ill patients can receive the care they need.”
Wojcik MH, Callahan KP, Antoniou A, et al. Provision and availability of genomic medicine services in Level IV neonatal intensive care units [published online ahead of print, 2023 Jul 6]. Genet Med. 2023;25(10):100926. doi:10.1016/j.gim.2023.100926
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