Performing rapid genome sequencing (rGS) early in a hospital stay can save nearly $160,000 per patient for critically ill infants with suspected genetic conditions, according to new research led by Tara Lavelle, PhD, Assistant Professor at Tufts University School of Medicine, and Jonathan M. Davis, MD, Vice Chair of Pediatrics at Tufts Medical Center and Professor of Pediatrics at Tufts University School of Medicine.
The multicenter GEMINI study, published in The Journal of Pediatrics, evaluated 400 hospitalized infants and compared two testing approaches:
- Performing rGS for all infants within the first week of admission
- Starting with a smaller targeted gene panel test (NewbornDx) and ordering rGS later if no diagnosis was found
Although rGS had a higher upfront cost ($12,297 vs. $2,449 for NewbornDx), it identified the cause of illness in nearly twice as many infants (49% vs. 27%) and led to shorter hospital stays and lower overall healthcare costs.
“Our findings show that rapid genome sequencing not only improves the accuracy and speed of diagnosis for these very sick infants but can also significantly reduce healthcare spending,” said Dr. Lavelle, “Broader insurance coverage would make this powerful tool accessible to every family who needs it.”
Despite the proven cost savings, most U.S. insurers, including many Medicaid programs that cover 40% of children, do not routinely cover inpatient rGS. Expanding coverage could ensure timely access to this life-saving diagnostic tool, improving outcomes for infants and families while reducing costs across the healthcare system.
The GEMINI study included collaboration among Tufts Medical Center’s Center for the Evaluation of Value and Risk in Health (CEVR) and Department of Pediatrics, Women & Infants Hospital of Rhode Island, Rady Children’s Institute for Genomic Medicine, the Icahn School of Medicine at Mount Sinai and the University of Pittsburgh School of Medicine.
Learn more about the Center for the Evaluation of Value and Risk in Health
