For a newborn with a genetic disease, a diagnosis can take four or five years. That’s time that could be spent trying to treat the disease instead.
Signed into law this year, the Sunshine Genetics Act aims to eliminate that wait time and further Florida’s medical research into rare pediatric genetic diseases.
The act creates the Florida Institute for Pediatric Rare Disease and directs it to administer the Sunshine Genetics Consortium. The consortium will work across the state’s university system and top medical providers to collect and distribute data and research in the sector.
State Rep. Adam Anderson, R-Palm Harbor, drafted the bill and pushed it through the Florida Legislature, including seven different committees that needed to sign off. On Friday, he visited UF as the final stop on a tour of all the members of the new consortium.
Anderson said the Sunshine Genetics Act marks the next generation of healthcare for Florida. He said the act allows parents to opt into a full genome sequence of their newborn in order to know right away what disease might be present. The full genome sequence can identify more than 600 rare diseases.
There are around 10,000 known rare diseases, and while rare, they impact around 30 million Americans, nearly 10% of the population. Anderson said Florida researchers work every day to identify more rare diseases to aid in future detection.
Anderson said Florida already has one of the most robust pediatric screenings that tests for around 60 diseases, but he said the advanced screening will eliminate the “diagnostic odyssey” and allow families to immediately look at treatment options.
“Florida now is the first and only state in the country to offer a newborn screening program that’s this comprehensive, that’s this robust, one that will attract the best talent in the industry, the most brilliant minds in medical research, and one that will, in fact, usher in the future of medicine to Florida,” he said.
Dr. Jennifer Hunt, interim dean of the University of Florida College of Medicine, said UF is proud to join its colleagues from across the state in the consortium. Together, she said, they’ll push the boundaries on rare disease treatment.
“This isn’t just about providing access and funding for leading-edge breakthroughs in science and state-of-the-art technology. It’s really about providing hope,” she said.
Last year, Hunt said UF Health saw 134,000 emergency room and trauma center visits at its locations across the state. She said 10,000 people were also transported to health centers by ShandsCare, whether by helicopter or ambulance.
Hunt said the ripples from each of those interactions with patients reach across all communities in the state.
Anderson and his family joined the rare disease community after his son was diagnosed with Tay-Sachs disease before dying in 2019 at four years old. He said the state should provide the best healthcare to the next generation of Floridians.
But he said there’s also an economic incentive with the genomic medicine industry estimated to reach $100 billion in the coming years. Right now, Florida only has a small sliver of that industry, but Anderson said the consortium will increase access to it.
The Sunshine Genetics Consortium unites UF, Florida State University, University of Miami, University of South Florida, Florida International University and Nicklaus Children’s Hospital.
Anderson said he’s in conversation with more stakeholders to join the consortium and add to Florida’s momentum.
The Florida Legislature funded the consortium at $3 million for a 5-year pilot program. The program is tasked with returning an annual report along with a final report that includes study population and enrollment metrics, whole genome sequencing metrics, clinical and public health impact, cost effectiveness and economic benefits.