Florida law models what genetic disease testing could be

In Florida, a new genetic disease screening program allows parents of newborns to receive free whole genome sequencing at birth, putting the state at the forefront of newborn screening.

The five-year pilot program, created in July via the Sunshine Genetics Act, is paid for by a mix of private and state funding, and requires parents to opt in to have their child tested.

It’s the nation’s first state-backed genetic screening program.

The new law, passed unanimously in the Florida House of Representatives and Senate, was the end result of a tireless campaign through the legislature by Rep. Adam Anderson, the Republican sponsor of the bill.

For Anderson, whose son, Drew, died in 2019 from Tay-Sachs disease, a rare genetic metabolic disorder, passage of the legislation was more than a political victory; it was affirmation that his decision to run for office will have an impact beyond what he initially envisioned.

“When I first agreed to run for office, I never intended on working on rare disease policy,” said Anderson. “But once I got elected, and I found myself serving on some health-care committees, I realized the impact that we can have, and I also realized pretty quickly the lack of support for the rare disease community that existed in government.”

The program aims to sequence the genomes of 100,000 newborns. The bill also establishes the Florida Institute for Pediatric Rare Diseases at Florida State University, and the Sunshine Genetics Consortium, a Florida-based network of universities and hospitals focused on expanding genetic research and testing.

“The Sunshine Genetics Act is a very exciting, transformative, truly landmark piece of legislation — [it’s] wild to think that, because it originated from my scribble notes on a cocktail napkin,” Anderson added. “It took about eight or nine attorneys to fix what I put on paper and make it actually something that could be voted on and passed, but it’s giving Florida a truly once-in-a-generation opportunity to lead the nation in genomic and precision medicine.”

“Precision medicine,” sometimes referred to as “personalized medicine,” uses a person’s genetics, environment and lifestyle to help guide medical decisions.

The bill passed through the legislature of a conservative state with overwhelming bipartisan support.

“I think folks in other states are a little surprised that Florida beat them to this, which I find personally satisfying,” Anderson said. “But the reality is we’re not competing with these other states, right? This is a framework that I hope other states will adopt. I want other states to bring these kinds of programs there. This is not a Florida issue. It’s not a New York issue. It’s not a California issue.”

“So we’re trying to really change the course of diagnosis altogether,” said Katherine Stueland, CEO of GeneDx, a genetic testing company that’s a partner of the Sunshine Genetics Act and a sponsor of the CNBC Cures Summit. “The earlier you diagnose, the earlier you have a world of options that can help prevent disease progression. And so it’s unconscionable that it takes five years for anyone to get diagnosed with a genetic disease. That’s the average. It’s five years today, and we can provide an answer in 48 hours.”

Some studies have shown that it can take even longer than five years for rare disease patients to get diagnosed. One done by the rare disease advocacy group EveryLife Foundation found that once rare disease symptoms begin, on average it takes more than six years for a patient to receive an accurate diagnosis.

And that’s more than just lost time. It’s also added cost for those families. The same study also looked at associated costs of seven rare diseases and found that families that had a delayed diagnosis spent an additional $86,000 to $517,000 per patient, depending on the disease, because of additional doctor visits, hospitalizations and other health-related trips.

Early whole genome sequencing could help bring those costs down by potentially identifying genetic diseases before they become symptomatic.

Meanwhile, the cost of genetic testing has never been cheaper. Stueland said that a decade ago, whole genome sequencing cost tens of thousands of dollars. Today she says her company can do it for about $3,500.

In addition, more insurance plans and Medicaid programs are covering those costs, according to GeneDx. Today 36 states have Medicaid coverage for exome and genome testing, and 17 states cover rapid genome sequencing, GeneDx said.

“I think we’ve done the hard work to reduce our turnaround times, to reduce our costs, to deliver health economic data,” Stueland said.

But as costs have come down and access to tests has expanded, awareness among general practitioners about how and when to deploy them remains low. Many prescribers don’t realize that these are tests that can often be done in a pediatrician’s office with a cheek swab, and don’t think to apply them to their patients.

But that could be starting to change. In June, the American Academy of Pediatrics updated its guidance to recommend that pediatricians order exome or genome sequencing as the first-line test for patients with global developmental delays or intellectual disabilities. It’s the first time AAP has issued updated guidance on the issue since 2014, and could significantly shorten the diagnostic timeline for patients with a rare disease. GeneDx says it’s making a push to make doctors more aware of that updated guidance.

“Step one for us is we’re really investing in education for pediatricians,” said Stueland. “We have a massive educational investment to ensure that they know that the guidelines have been updated, and that genetic testing is not going to take months … it’s going to take a matter of days for us to get the information to them, and that insurance is paying for it.”