Johns Hopkins All Children’s Hospital leaders and staff came together Tuesday to celebrate expansion of the organization’s Clinical Biochemical Genetics Laboratory with a ribbon-cutting ceremony.
The facility can help diagnose and monitor rare metabolic conditions. These can be life-threatening if they are not caught early.
“This is really transformative for us and our kids,” Johns Hopkins All Children’s Hospital president Alicia Schulhof told the Catalyst. “It offers faster turnaround times for things like newborn screenings, which means our patients and families get answers faster and our physicians and care team are able to provide care more efficiently.”
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She explained that previously it would take days to weeks to get results. With the new equipment, testing can be completed “in-house.”
Conditions that can be diagnosed include sickle cell disease and the rare ornithine transcarbamylase deficiency (OTC), which causes the toxic gas ammonia to build up in the blood. The lab supports specialities including neurology, cardiology, gastroenterology and dermatology.
“We started building this program in earnest one to two years ago,” Schulhof said. “But, over the last 30 days, we have started the testing. It takes a while to prepare for development.”
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Staff members have already received nearly 100 specimens. These include samples from other hospitals. Lab technicians measure biomarkers in blood and urine to test for the different conditions.
“This is a great tool for the genetics team here,” Johns Hopkins All Children’s Hospital Department of Surgery chair Dr. Paul Danielson said at the event. “It’s also a jumping off point. We’re very hopeful that with what we’re doing here, we can maybe participate more in newborn screenings and it sets us up for doing all sorts of things.”
He explained that the goal is to be able to provide local testing for Florida families. Parents do not have to go out of state to get their children the treatment they need.
Dr. Ruben Bonilla Guerrero is section director of the Clinical Biochemical Genetics facility.
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“The laboratory has an impact in all medical specialties and the reason is because metabolism conditions can manifest and affect all systems and organs from all ages,” he said. “Whether it’s a newborn with a normal newborn screening, a newborn where a screening did not detect something or a later onset patient.”
Sometimes, people may not know that they have a condition until adulthood without testing. With the facility, Bonilla Guerrero explained, patients will be able to be treated correctly.
He added that the tests detect elevations of metabolite levels, such as amino acids and fatty acids. Hundreds of conditions can be diagnosed.
By having the equipment at the hospital, Bonilla Guerrero said, this can reduce wait times by 90 to 95%. With the results, further testing can be explored if necessary.
