Through a collaboration between Rady Children’s Institute for Genomic Medicine (RCIGM) and RWJBarnabas Health, the most comprehensive academic health care system in New Jersey, rapid Whole Genome Sequencing™ (rWGS) is now available to help diagnose unexplained medical conditions in newborns and infants who need immediate intervention. Still early in its integration in practice, babies throughout RWJBarnabas Health have already greatly benefitted from this advanced genetic testing.
Whole genome sequencing can identify the root cause of rare genetic disorders and diseases in some of the sickest infants by mapping the patient’s entire genome with a simple blood test. In medically urgent cases, RCIGM delivers preliminary diagnoses in three business days compared to standard testing that can take four to six weeks or more. Doctors can then provide a precise diagnosis and administer targeted, sometimes lifesaving care – exemplified by baby girl Frankie who was born at 35 weeks gestation.
While she initially had some minor complications due to her premature birth, all seemed well. Her mother, Jeri Berinato, excitedly awaited taking her little girl home. A few days later, the Neonatal Intensive Care Unit (NICU) nurses at Saint Barnabas Medical Center in Livingston noticed she had severe blisters on her feet and was losing skin, leaving her vulnerable for dangerous, life-threatening bacteria to enter her body.
Unaware of the extent to which the condition could progress, routine screenings and care became a great risk. All procedures were changed immediately to prevent further skin damage. Mrs. Berinato and her husband worried that even holding their baby could cause more harm. The clinical team and the family needed to determine a diagnosis quickly.
With the help of rWGS, baby girl Frankie was diagnosed with epidermolysis bullosa (EB), a rare genetic disorder that causes fragile, blistering skin. Mrs. Berinato instantly thought of her own mother’s experience with a severe form of EB – constant blistering and pain, as well as difficulty swallowing, loss of her fingernails and dental problems – and she worried her daughter would suffer the same fate. After having her genome mapped, Mrs. Berinato learned that she too had EB, though she has never experienced a symptom.
“When an infant is born with what may be a genetic condition, families are desperate for answers and oftentimes lose months and years searching for clinical specialists who can diagnose and appropriately treat their child,” said Kamtorn Vangvanichyakorn, MD, Director of Neonatology, Saint Barnabas Medical Center. “Rapid whole genome sequencing is a game-changer. It allows us to provide critical answers and targeted, individualized treatment, at a time when the therapeutic window is often narrow. We are honored to bring the best care to our smallest patients and ease the stress of their loved ones, while also providing the best chance of survival and quality of life, now and in the future.”
Armed with the knowledge of an EB diagnosis, the team at Saint Barnabas Medical Center was able to quickly treat the baby and prevent further harm.
“I’m so thankful that we had the opportunity to have rapid genetic testing for Frankie and our family,” Mrs. Berinato said. “Being aware that something is wrong with your beautiful newborn baby, but not knowing exactly what it is or how to treat it, is probably the worst feeling I’ve ever had. My mind raced to all of the worst-case scenarios. As soon as we received the results, I felt a huge sense of relief. With proper care from the beginning, I am confident that Frankie will have a better quality of life than my mom. And learning that I also have EB but never had a symptom, I have hope that she will have a mild case and lead a happy and healthy life.”
This testing is now available to critically ill infants in each of RWJBarnabas Health’s level III/IV NICUs, including:
- Saint Barnabas Medical Center
- Bristol Myers Squibb Children’s Hospital at Robert Wood Johnson University Hospital
- Unterberg Children’s Hospital at Monmouth Medical Center
- The Children’s Hospital of New Jersey at Newark Beth Israel Medical Center
- Jersey City Medical Center
RWJBarnabas Health is the only health care system in New Jersey and the New York metro area where RCIGM rWGS is routinely clinically available to the babies that need it.
“Where you go to deliver your baby matters, especially for high-risk mothers and babies who may be born with a medical complication,” said William Faverzani, Senior Vice President of Children’s Services at RWJBarnabas Health. “As these new lives are fragile, you should be sure that the hospital you choose is equipped to, or has an affiliation with a facility, that can handle any situation that may arise because time is of the essence. We are proud to be the only health system in New Jersey to collaborate with RCIGM to offer rWGS to give our tiniest patients the best chance at a good quality of life and provide peace of mind to their loved ones.”
Baby Frankie is now home and her wounds are healed. The care team at Saint Barnabas Medical Center also connected the Berinato family with an outpatient care team to ensure EB expertise is incorporated in all aspects of Frankie’s care – giving her the best chance for positive outcomes.
“We were able to confirm the diagnosis and quickly address the needs of this baby without inflicting any unnecessary trauma to her skin, which would have happened if we conducted regular panels of tests,” said Dr. Vangvanichyakorn. “The infant’s family is relieved and feels confident that the child was given the best care possible.”
Located on the campus of Rady Children’s Hospital in San Diego, California, RCIGM houses a state-of-the-art genome sequencing lab and employs a multi-disciplinary team of experts who specialize in providing fast and accurate guidance to physicians caring for children with rare genetic diseases or disorders. Through this collaboration, RCIGM is providing expertise to RWJBarnabas Health physicians thorough training on patient identification, test ordering and utilization. RCIGM clinical genomics experts are also available on an ongoing basis to offer telementoring consultation on RWJBarnabas Health’s patient cases.
“At Rady Children’s Institute for Genomic Medicine, our philosophy is simple – we collaborate with like-minded healthcare organizations like RWJBarnabas Health to improve the care and outcomes of pediatric patients through the provision of Rapid Precision Medicine™,” said Stephen Kingsmore, MD, DSc, president and CEO of RCIGM. “Rapid whole genome sequencing can provide physicians with the information they need to quickly identify or rule out most genetic diseases in infants and newborns so they can begin targeted treatment. Most importantly, parents no longer have to endure a lengthy diagnostic odyssey and can focus on caring for their child. We’re delighted to collaborate with RWJBarnabas Health to bring access to rWGS to the families it serves.”