Just 48 hours after her birth in a Seattle-area hospital in 2021, Layla Babayev was undergoing surgery for a bowel obstruction.<\/p>\n

Two weeks later, she had another emergency surgery, and then developed meningitis. Layla spent more than a month in neonatal intensive care in three hospitals as doctors searched for the cause of her illness.<\/p>\n

Her parents enrolled her in a clinical trial to check for a genetic condition. Unlike genetic tests focused on a few disease-causing variants that can take months to produce results, the study at Seattle Children\u2019s Hospital would sequence Layla\u2019s entire genome, looking for a broad range of abnormalities \u2014 and potentially offer answers in under a week.<\/p>\n

Dmitry and Corrina Babayev\u2019s 2-year-old daughter, Layla, was born with a rare genetic disease that caused serious gastrointestinal problems. Doctors diagnosed it with the help of rapid whole-genome sequencing, a test that analyzes a patient\u2019s complete DNA makeup to identify genetic disorders.(Kamra Fuller Photography)<\/span><\/figcaption><\/figure>\n

The test found Layla had a rare genetic disorder that caused gastrointestinal defects and compromised her immune system. The findings led doctors to isolate her, give her weekly infusions of antibiotics, and contact other hospitals that had treated the same condition, said her father, Dmitry Babayev.<\/p>\n

Today, Babayev credits the test, known as rapid whole-genome sequencing, for saving his daughter\u2019s life. \u201cIt is why we believe Layla is still with us today,\u201d he said.<\/p>\n

Like her disorder, Layla\u2019s experience is rare.<\/p>\n

Few hospitalized babies with an undiagnosed illness undergo whole-genome sequencing \u2014 a diagnostic tool that allows scientists to quickly identify genetic disorders and guide clinicians\u2019 treatment decisions by analyzing a patient\u2019s complete DNA makeup. That\u2019s largely because many private and public health insurers won\u2019t cover the $4,000-to-$8,000 expense.<\/p>\n

But an alliance of genetic testing companies, drugmakers, children\u2019s hospitals, and doctors have lobbied statesto increase coverage under Medicaid \u2014 and their efforts have begun to pay off.<\/p>\n

Since 2021, eight state Medicaid programs have added rapid whole-genome sequencing to their coverage or will soon cover it, according to GeneDX<\/a>, a provider of the test. That includes Florida, where the Republican-controlled legislature has resisted expanding Medicaid under the Affordable Care Act.<\/p>\n

The test is also under consideration for coverage in Georgia, Massachusetts, New York, and North Carolina, according to the nonprofit Rady Children\u2019s Institute for Genomic Medicine<\/a>, another major provider of the test.<\/p>\n

Medicaid coverage of the test can significantly expand access for infants; the state-federal program that insures low-income families covers more than 40% of children in their first year of life.<\/p>\n

\u201cThis is an extraordinary, powerful test that can change the trajectory of these children\u2019s diseases and our own understanding,\u201d said Jill Maron, chief of pediatrics at Women & Infants Hospital in Providence, Rhode Island, who has conducted research on the test.<\/p>\n

\u201cThe only thing interfering with more widespread use is insurance payment,\u201d she said.<\/p>\n

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Proponents of whole-genome sequencing, which has been commercially available for about six years, say it can help sick infants with potentially rare diseases avoid a months- or years-long odyssey of tests and hospitalizations without a clear diagnosis \u2014 and increase survival.<\/p>\n
They also point to studies showing rapid whole-genome testing may lower overall health costs by reducing unnecessary hospitalizations, testing, and care.<\/p>\n
But the test may have its limits. While it is better at identifying rare disorders than older genetic tests, whole-genome sequencing detects a mutation only about half of the time<\/a> \u2014 whether because the test misses something or the patient does not have a genetic disorder at all.<\/p>\n
And the test raises ethical questions because it can also reveal that babies \u2014 and their parents \u2014 have genes that put them at increased risk for adult-onset conditions such as breast and ovarian cancer.<\/p>\n
Even so, some doctors say sequencing offers the best chance to make a diagnosis when more routine testing doesn\u2019t provide an answer. Pankaj Agrawal, chief of neonatology at the University of Miami Miller School of Medicine, said only about 10% of babies who could benefit from whole-genome sequencing are getting it.<\/p>\n
\u201cIt is super frustrating to have sick babies and with no explanation what is causing their symptoms,\u201d he said.<\/p>\n
Some private insurers now cover the test<\/a> with certain limitations, including UnitedHealthcare<\/a> and Cigna<\/a>, but others do not.<\/p>\n
Even in states that have adopted the test, coverage varies. Florida will add the benefit to Medicaid later this year for patients up to age 20 who are in hospital intensive care units.<\/p>\n
Florida state Rep. Adam Anderson, a Republican whose 4-year-old son died in 2019 after being diagnosed with Tay-Sachs disease, a rare genetic disorder, led the push for Medicaid to cover sequencing. The new state Medicaid benefit is named for his son, Andrew.<\/p>\n
Anderson said persuading his GOP colleagues was challenging, given they typically oppose any increase in Medicaid spending.<\/p>\n
\u201cAs soon as they heard the term \u2018Medicaid mandate,\u2019 they shut down,\u201d he said. \u201cAs a state, we are fiscally conservative, and our Medicaid program is already a huge program as it is, and we want to see Medicaid smaller.\u201d<\/p>\n
Anderson said it took doctors more than a year to diagnose his son \u2014 an emotionally difficult time for the family as Andrew endured numerous tests and trips to specialists in several states.<\/p>\n
\u201cI know what it\u2019s like to not get those answers as doctors try to figure out what is wrong, and without genetic testing it\u2019s almost impossible,\u201d he said.<\/p>\n
A Florida House analysis estimated<\/a> that if 5% of babies in the state\u2019s neonatal intensive care units got the test each year, it would cost the Medicaid program about $3.3 million annually.<\/p>\n
Florida\u2019s legislative leaders were persuaded in part by a 2020 study called Project Baby Manatee, in which Nicklaus Children\u2019s Hospital in Miami sequenced the genomes of 50 patients. As a result, 20 patients \u2014 about 40% \u2014 received a diagnosis, leading to changes in care for 19 of them.<\/p>\n
The estimated savings exceeded $3.7 million \u2014 a nearly $2.9 million return on investment, after the cost of the tests, according to the final report<\/a>.<\/p>\n
\u201cWe have shown that we can justify this as a good investment,\u201d said Parul Jayakar, director of the hospital\u2019s Division of Clinical Genetics and Metabolism, who worked on the study.<\/p>\n
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