Genomic testing results allow doctors to begin targeted treatment within days.
Baby girl Frankie was born early— at 35 weeks—but all seemed well, except for some minor health complications that kept her in the Neonatal Intensive Care Unit (NICU) at Cooperman Barnabas Medical Center (CBMC).
However, within a few days of birth, Frankie had developed severe blisters on her feet and was losing skin. Even routine screenings now posed a risk, and the baby was vulnerable to life-threatening bacteria entering her body. Her family was afraid to hold her. A diagnosis was needed, right away.
Not long ago, genetic testing for infants could test just a few genes at a time, and results took weeks or months to come back. But thanks to a collaboration between Rady Children’s Institute for Genomic Medicine and RWJBarnabas Health (RWJBH), Level III and Level IV NICUs in the RWJBH system can offer rapid Whole Genome Sequencing (rWGS). For medically urgent cases, preliminary diagnoses are available in three to five days.
Using a blood sample, rWGS can scan a child’s entire genetic makeup for thousands of anomalies. The test results provide vital information that leads to individualized care and fewer costly, invasive procedures. “Rapid genome sequencing is a game changer,” says Kamtorn Vangvanichyakorn, MD, Director of Neonatology at CBMC. “It allows us to provide critical answers and targeted treatment at a time when the therapeutic window is often narrow.”
"A Sense of Relief"
The testing revealed that Frankie has a type of epidermolysis bullosa (EB), a rare group of diseases that are most often caused by a genetic mutation. Frankie’s mother, Jeri Berinato, knew that her own mother lived with a severe form of EB, leading to constant blistering and pain, difficulty swallowing, loss of her fingernails and dental problems.
“As soon as we received the results, I felt a huge sense of relief,” Jeri says. “Not knowing what was wrong with my beautiful newborn baby was the worst feeling I’ve ever had. Now I know that, with proper care from the beginning, Frankie will have a much better quality of life than my mom has.”
In addition to CBMC, rWGS is available to critically ill infants at Bristol-Myers Squibb Children’s Hospital at Robert Wood Johnson University Hospital; the Unterberg Children’s Hospital at Monmouth Medical Center; Children’s Hospital of New Jersey at Newark Beth Israel Medical Center; and Jersey City Medical Center.
The use of rWGS at RWJBH came about through a long-standing partnership between Rady Children’s Hospital in San Diego, the parent organization of Rady Children’s Institute for Genomic Medicine, and Children’s Specialized Hospital, an RWJBH facility.
“We’re proud to be the only health system in New Jersey to partner with Rady Children’s to offer rapid genetic testing,” says William Faverzani, Senior Vice President of Children’s Services at RWJBH. “With this test, our physicians have access to cutting-edge technology, enabling them to intervene quickly to improve the lives of our tiniest patients and their loved ones.”
Learn more about rapid Whole Genome Sequencing at RWJBarnabas Health.