New Law Makes Rapid Genetic Testing Available To Families On Medicaid

by Jamil Ragland CTNewsJunkie

FARMINGTON, CT – A new law in Connecticut will make rapid genetic testing available to families on Medicaid with critically ill newborns.
Public Act 24-130, which was passed unanimously by both houses of the General Assembly and signed into law by Gov. Ned Lamont, requires Medicaid to cover rapid Whole Genome Sequencing (rWGS) for certain critically ill newborns. The testing is used to deliver accurate diagnoses more quickly to inform clinical decision making for patients, especially those with rare diseases, suspected genetic disorders and for undiagnosed, chronically ill children. Connecticut is now the 13th state to offer Medicaid coverage for rapid genetic testing.
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“Having a child who has something wrong with it is bad enough, but not being able to know what is wrong and how to proceed is a torture that no parent should ever have to experience,” said Rep. Jillian Gilchrest, D-West Hartford, during a news conference at UConn Health Center in Farmington. “And so to learn that there is something called rapid whole genome testing, that within less than 50 hours can determine potential genetic diseases which can give access to treatments and also maybe a cure, I said, okay. What’s the ask?”
Gilchrest continued: “And what was surprising to learn is that for some families in the state of Connecticut, they had access to the whole genome sequence. But for families who are on Medicaid in the state of Connecticut, they did not. So this is both an equity issue, but also just, again, an issue of kindness. We should not put families through the torture of not having an answer and not being able to get the help they want, need, and deserve for their child.”
According to Dr. Juan Carlos Salazar, professor and chair of pediatrics at the University of Connecticut School of Medicine and executive vice president and physician in chief at Connecticut Children’s Medical Center, more than 300 million people worldwide are affected by rare genetic diseases, with most patients five years old or younger. In the United States, approximately 25 million to 30 million people have one of the 7,000 rare diseases that are responsible for 25% of pediatric hospitalizations.

Salazar described traditional genetic testing as a “diagnostic odyssey” where doctors cycle through test after test depending on cost and potential efficacy. With the availability of rWGS testing, he said infants with rare congenital anomalies and undiagnosed conditions can now receive a diagnosis and begin potential treatments much earlier. 

Ben King, co-founder of Olivia’s Light, shares the story of his daughter, who suffered from a rare genetic mutation. Credit: Jamil Ragland / CTNewsJunkie

Ben King, a patient advocate and co-founder of Olivia’s Light, a nonprofit that seeks to make broad genetic testing available and free for all pediatric patients, shared the story of his daughter’s brief life and the impact genetic testing had on his family. Olivia suffered from an extremely rare gene mutation – one of only nine such cases in the world. Initial testing could not detect what was wrong.
“We spent six weeks in the agonizing unknown. We felt the constant need to be advocates for Olivia, which created conflict with her care team,” King said. “We consulted with every specialist and ologist imaginable, and nobody could tell us what was wrong with her. We had every test that they could think of ordered – two EKGs, two EEGs, labs, swallow studies, all of which were uninformative. We also had two uninformative genetic tests ordered, which ultimately delayed the diagnosis.”

King continued: “We were forced to make impossible decisions without information, decisions like whether or not to put in a [nasogastric] tube or a [gastrointestinal] tube and other invasive procedures. If rapid whole genome sequencing had been ordered in her first weeks of life, at her first clinical indication, we could have avoided all of that. all of these financial, emotional, and time costs.”
Alex McClellan, a genetic counselor with The Jackson Laboratory for Genomic Medicine (JAX) who testified in favor of the legislation in March, said that the new law would provide access to a powerful tool that can offer targeted treatments, improve patient outcomes, reduce costs, and save lives. The Jackson Laboratory’s genome test is the only clinical whole genome sequencing test offered in Connecticut, according to JAX representatives.
“Legislation like this is essential for bringing the promise of personalized medicine to those who need it most,” McClellan said. “By expanding Medicaid coverage to include radical genome sequencing for critically ill infants, this act not only increases access to genomic testing, but also addresses equity issues faced by low income, rural, and other underserved populations and typically encounter greater barriers to care.”

Sen. Matt Lesser, D-Middletown, spoke about the need to balance sympathy for parents and sick infants with tough questions about the affordability of the new law. 
“I had some real questions about the cost and whether or not the return on investment would be there,” Lesser said. “We had some experts look at it, and they said, you know what, this is a really good idea. It will provide peace of mind, it will provide some really important medical information, and it will help us develop new cures and make sure that we’re getting cutting edge treatments. And not just for wealthy parents, but for some of the poorest parents out there who often struggle when cost is a barrier to making sure they can get access to diagnostics and treatment. So it’s a really important step forward.”
While cost savings figures were not readily available for Connecticut, other states which offer rapid genetic testing have shown fiscal benefits. California provides rapid genetic testing to infants through a program called Project Baby Bear, which in 18 months provided rWGS testing to 178 critically ill infants across the state. The testing resulted in a savings of $2.5 million through the elimination of other unnecessary tests and procedures, as well as contributing to shorter hospital stays.

Rep. Holly Cheeseman, R-East Lyme, celebrated the bipartisan support for making the testing available, and the impact the information could have on the families of critically ill infants.
“We are here today to celebrate what in many ways is this miracle,” Cheeseman said. “The miracle of modern technology, the science, the researchers, the dedicated nurses and doctors who make this day possible, who will give families now the knowledge of what is wrong with their baby. And ideally, the miracle that brings us this rapid genome sequencing will one day be the miracle that ensures that a little baby like that can have a full and productive life. I’m so honored to be here today to celebrate a wonderful achievement that will give families knowledge and comfort, and proves that there are people on both sides of the aisle throughout this state who care about them and want to do everything we can to make their lives better.”