Next-Gen Sequencing May Improve Diagnose of Rare Diseases in Newborns

A pilot study suggests that a next-generation sequencing (NGS) test panel for newborns in neonatal intensive care units (NICUs) may improve the diagnosis of rare diseases, deliver results more quickly, and enable test performance in-hospital rather than outsourcing.

"Newborns admitted to the NICU with rare and complex diseases may benefit substantially from a timely molecular diagnosis through NGS," wrote Dr. David Dyment, Children's Hospital of Eastern Ontario (CHEO; Ottawa, Ontario, Canada), and coauthors. Children with suspected rare genetic diseases usually undergo a battery of tests to determine a molecular diagnosis. Current practice involves testing of specific genes or a panel of genes, and these tests are often done outside the country because of limited availability within Canada. This means it may be months or even years before a diagnosis is made.


There are few studies to date looking at the feasibility and diagnostic success rate of NGS in the NICU. In the new report, the researchers conducted a pilot study with 20 newborns to determine the effectiveness of a targeted NGS panel that included all 4813 genes currently known to be associated with rare diseases. The 20 newborns presented with a wide range of complex medical issues, and half had neurologic symptoms such as seizures or hypotonia. NGS provided a molecular diagnosis for eight of the 20 infants (40%); in 2 infants the diagnoses had a direct impact on their medical management.

"This technique can be performed in a hospital-based laboratory without the need to send samples away," stated Dr. Dyment, "This will allow for diagnoses to be made quickly, providing answers to anxious families and potentially life-saving interventions in some cases."

The researchers suggested that adopting NGS in hospitals will greatly increase the ability to diagnose rare diseases and treat children while reducing healthcare financial costs. "It can also indicate whether other family members may be at risk of the same disease and provide an accurate recurrence risk for future pregnancies," wrote Dr. Sarah Bowdin, Clinical & Metabolic Genetics, Hospital for Sick Children (SickKids; Toronto, Ontario, Canada) in a related commentary, " Building strong partnerships with specialists such as neonatologists, intensive care physicians, and genetics laboratories is critical to ensure the success of this diagnostic tool.

The study, by Daoud H et al, and the commentary, by Bowdin SC, were published May 30, 2016, in the Canadian Medical Association Journal.

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Children's Hospital of Eastern Ontario