NEW YORK – Florida's House of Representatives last week approved a measure to expand newborn genetic rare disease screening from 60 conditions to up to 600 disorders with actionable findings.
Called the Sunshine Genetics Act and sponsored by Rep. Adam Anderson, a Republican who lost his own son to Tay-Sachs disease, the bill is now in the state's Senate, where if it passes and is signed into law by the governor, it is scheduled to take effect on July 1.
The bill would establish a pilot program to sequence 10,000 newborns with an allotted $20 million. The program will also receive $5 million in recurring funding secured for Florida State University's Institute for Pediatric Rare Diseases (IPRD) to sustain research and clinical care.
Anderson said that he hopes that the bill will help identify patients who can benefit from existing and emerging therapies faster, and that it will help to lower barriers to broader testing.
"One of the roadblocks is that [gene therapy companies] are not able to get to patients before they're symptomatic, and that's a product of there being not enough access to genetic testing," he said.
The difficulty in recognizing and diagnosing rare diseases, he added, leads to diagnostic odysseys involving multiple tests, repeat testing, numerous hospital visits, and costly stays in the NICU. Early access to whole-genome sequencing, Anderson said, might alleviate some of these costs and uncertainties.
"Let's just start with whole-genome sequencing," he said. "We know that on average, something in the neighborhood of 3 to 4 percent of results will come back as abnormal, but now that population has the option to be part of a clinical trial, or to be offered a [US Food and Drug Administration]-approved treatment before they're symptomatic."
The IPRD was created last year with a $1 million grant in initial state funding. Florida Gov. Ron DeSantis later approved an additional $5 million for the institute from the state's budget.
Although led by the IPRD, the pilot program will be administered by the Sunshine Genetics Consortium, comprising representatives from FSU, the University of Florida, the University of Southern Florida, Florida International University, and the University of Miami, as well as from Nicklaus Children's Hospital. The consortium will be administered by a board consisting of an appointee from each of those institutions. Additionally, the state's governor, Senate, and House of Representatives will each appoint one member to the consortium's board.
The bill joins other state efforts to improve screening and access to care for rare diseases. Last month, for instance, a bill to improve Medicaid access for newborns with rare diseases was introduced to Minnesota's Legislature.
Pradeep Bhide, director of the IPRD, said in an email that while there is currently no exact estimate of how long the pilot program is expected to last, the consortium hopes to complete sequencing of 10,000 newborns within roughly five years.
"By enabling the collection and analysis of genomic data from 10,000 Florida newborns, it addresses a critical gap at a time when federal research priorities are shifting," Bhide said. "Undertaking such an ambitious effort — whether supported by state or federal funds — is no small feat."
Indeed, the Sunshine Genetics Act comes as the US federal government has been placing restrictions on the amount of funding available for biomedical research and what grant funds can be used for. The Trump administration, for example, recently issued a policy seeking a 15 percent cap on indirect costs reimbursement for National Institutes of Health grants, down from a previous average of 28 percent. Although this was blocked earlier this month in a ruling made by the US District Court for the District of Massachusetts, other barriers to biomedical research continue to arise. Last week, for example, the US Department of Health and Human Services quietly eliminated the Advisory Committee on Heritable Disorders in Newborns and Children, which makes recommendations concerning which conditions to include in newborn screening panels. Prior to its elimination, the committee had been scheduled to discuss recommendations for metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD).
In contrast to HHS eliminating that committee, Rep. Anderson has sponsored another bill –– HB 1089 –– that would require Florida's Department of Health to include DMD in its list of necessary newborn screening conditions. Anderson said that Florida's House of Representatives will discuss the bill this Wednesday.
Bhide said that the strong bipartisan support for the Sunshine Genetics Act gives him confidence that the initiative will succeed and accelerate rare disease research and care. Another point in the program's favor, he noted, is that the pilot program is insulated from much of the uncertainty surrounding funding at the federal level.
All costs associated with performing the work of the program, such as sample collection, whole-genome sequencing, data analysis/reporting, and data repository management, he said, will be supported by the funding approved through legislative appropriations, while FSU will be able to cover all overhead costs from its own resources.
"Once the pilot ends, insurance companies, Medicaid/Medicare, or out-of-pocket payments will have to cover the costs," Bhide said.
Nonetheless, he said, federal funding will remain critical in the broader scope of things.
"It has historically been the foundation of rare disease research and, when combined with state-level investment, creates a powerful synergy," he said. "If federal support continues alongside this initiative, the combined impact would be extraordinary."
Although the Sunshine Genetics Act is specific to Florida, Anderson hopes to eventually develop it into a nationwide effort that, while led by Florida universities, will consist of public and private entities across the US.
"Florida is putting its money where its mouth is on genetics," he said. "We want to lead the nation in this field, and we're willing to invest in it through a public-private partnership."