Florida law models what genetic disease testing could look like

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 through the Sunshine Genetics Act, is funded with a combination of private and state funds and requires parents to opt-in to have their children tested.

It is the country's first state-supported genetic screening program.

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

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

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

The program aims to sequence the genomes of 100,000 newborns. The bill also establishes the Florida Institute for Rare Pediatric 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 interesting, transformative and truly historic piece of legislation. [it’s] “It's amazing to think that, because it originated from my notes scribbled on a cocktail napkin,” Anderson added. “It took about eight or nine attorneys to fix what I put on paper and turn it into 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 called “personalized medicine,” uses a person's genetics, environment, and lifestyle to help guide medical decisions.

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

“I think people in other states are a little surprised that Florida beat them on this, which I personally find 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 adopt. I want other states to bring these types of programs there. This is not a Florida problem. It's not a New York problem. It's not a California problem.”

There is no federal law that requires insurers to pay for genetic testing of children without a proven medical need. The Recommended Uniform Screening Panel, a list of disorders that the Department of Health and Human Services recommends states screen for as part of universal newborn screening programs, covers only 38 core conditions. There are thousands of rare diseases that doctors do not detect until a child begins to show symptoms. By then, it is usually too late.

“So we're trying to really change the course of diagnosis entirely,” said Katherine Stueland, CEO of GeneDx, a genetic testing company partner of the Sunshine Genetics Act and sponsor of the CNBC Cures Summit. “The sooner you are diagnosed, the sooner you will have a world of options that can help prevent the progression of the disease. Therefore, it is inconceivable that it would take five years for someone to be diagnosed with a genetic disease. That is the average. Today it is five years and we can provide an answer in 48 hours.”

Some studies have shown that patients with rare diseases can take even more than five years to be diagnosed. A study by the rare disease advocacy group EveryLife Foundation found that once symptoms of a rare disease begin, it takes an average of more than six years for a patient to receive an accurate diagnosis.

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

Early whole genome sequencing could help reduce those costs 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 he says his company can do it for about $3,500.

Additionally, more insurance plans and Medicaid programs cover 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 response times, reduce our costs and deliver health economic data,” Stueland said.

But as costs have fallen and access to testing has expanded, awareness among GPs about how and when to implement them remains low. Many prescribers don't realize that these are tests that can often be performed in a pediatrician's office with a cheek swab and don't think about giving them to their patients.

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

“The first step for us is to really invest in the education of pediatricians,” Stueland said. “We have a huge investment in education to make sure they know that the guidelines have been updated and that genetic testing won't take months… it will take us a matter of days to get the information to them, and that insurance will pay for it.”

Enrollment in the Florida program, overseen by the Florida Institute for Rare Pediatric Diseases, will begin in March during well-baby visits at pediatric offices in Tallahassee. Beginning in the second quarter, the program will roll out to Tampa General Hospital, which delivers about 6,000 babies a year, and from there is expected to grow to larger hospital systems.

Anderson said his goal is to expand the program throughout Florida, but said he has had conversations with representatives from other states who are interested in learning more about it.

“Absolutely, it's nationally scalable. Absolutely. We've built it. We have the template for this,” Anderson said. “It's something that can be done at the state level.”

“We don't have to wait for the federal government to enact these types of policies,” he said. “It's hard to do things in [Washington,] “DC states can be much more agile and it only takes one champion.”

Anderson said that while he hopes Drew would have been proud of him for helping craft the Sunshine Genetics Act, that idea isn't what motivates him.

“You know, a lot of times people say, 'Well, you're doing this for your son. It's a legacy,'” Anderson said. “I guess so, but I do it for the other kids. That's really what motivates me.”