Guest Author
The field of pediatric medicine is abundant with heroes — doctors, nurses and researchers — all dedicated to better health and finding the best treatments for children. It’s my honor to shine a light on two Florida health care heroes who stepped forward this year to transform medical care for Florida’s most vulnerable kids — critically ill children with undiagnosed illnesses receiving care in Florida intensive care units.
Gov. Ron DeSantis recently signed a state budget that incorporated funding for the Andrew John Anderson Rapid Whole Genome Sequencing Program (rWGS) championed by House Speaker Paul Renner and Rep. Adam Anderson. The program provides funding for the Agency for Health Care Administration to add rapid whole genome sequencing as a covered fee-for-service benefit for enrollees who are 20 years old or younger and are receiving care in a hospital intensive unit for an undiagnosed condition — meaning it can be more broadly available to children in Florida.
Families of children with undiagnosed diseases owe these Florida leaders a debt of gratitude for creating a brighter tomorrow for children in Florida. It will mean many families and caregivers get faster answers to help children in need so that they can begin receiving targeted treatments.
I am honored that Nicklaus Children’s Hospital was able to play a role in this important event. Findings of a state-funded pilot program conducted by Nicklaus Children’s Hospital provided valuable insights into the remarkable potential of rapid whole genome sequencing.
The pilot program revealed that rWGS dramatically improves care, and shortens a child’s diagnostic odyssey, all while dramatically reducing the cost of care. When a child or newborn has a critical illness, time can be critical. If standard tests don’t identify the cause of illness, children may languish, while doctors avidly explore other available diagnostic options. The process can go on for months or even years with devastating impacts on the child and family. Rapid WGS, an emerging technology, has the potential to analyze the entire patient genome, including more than 30,000 genes, with results available in 72 hours, reducing patient wait times to confirm a rare diagnosis on average by five months. The answer it provides is changing the course of lives.
During 2018-2023, more than 111 patients at Nicklaus Children’s Hospital were afforded rWGS. About half of them received a diagnosis and treatment plan due to rWGS. This reduced the duration of each child’s “diagnostic odyssey,” and average savings were estimated to be $198,791 per patient when rWGS is used instead of standard segmented genetic testing. With this new rapid test, total savings for children in the state of Florida is estimated at more than $16 million per year.
The greatest value of all for those of us who provide care: Children with rare diseases diagnosed by rWGS can begin receiving targeted treatment that can lead to a more normal life and help lift a devastating veil of worry for the family, while providing medical direction for the future.
All of us at Nicklaus Children’s express our gratitude to House Speaker Renner and Rep. Anderson for their commitment to the well-being of Florida’s children. Thanks to them, better tomorrows await so many children in our care.
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Matthew A. Love is the president and CEO of the Nicklaus Children’s Health System.
