Rapid genetic testing for sick infants could soon be covered by Medicaid

TUCSON, Ariz. (13 News) - Rapid genetic testing is helping find thousands of rare diseases in newborns at birth, and Arizona has joined eight states in its decision to cover the cost for Medicaid patients.

Every day in Arizona babies are born with rare genetic disorders.

“One to five percent of all births, those infants will have some kind of genetic condition,” said Dr. Philip James, a Medical Geneticist from Phoenix.

Arizona requires early blood spot screenings on all newborns at birth to find these disorders, but only 33 rare conditions are checked.

Rapid whole-genome sequencing is a relatively new test that offers a fast and accurate diagnosis of the hundreds of rare genetic conditions in critically ill infants.

In the hospital, a baby’s blood is drawn, or a simple cheek swab of a baby’s DNA is taken, and then sent to a lab for testing.

Dr. James is among a team of doctors tasked with diagnosing and treating these infants.

“There’s gonna be hundreds of thousands, maybe millions of differences between every human being obviously because we are not clones. The key thing is are some of these differences disease or disorder causing,” James said.

According to the National Institutes of Health, genetic disorders are a leading contributor to death in the neonatal and pediatric intensive care units in the U.S.

James says thanks to this updated technology, families are able to get answers faster.

“That process can take 5-7 days at the lab which is incredibly fast. Ordinarily, in the past, it might take two, three, four months... and we can’t wait that length of time when things are urgent,” James said.

While this rapid genetic testing can be life-changing for families, not everyone can afford it.

“It’s at least going to be a few thousand dollars which is not something that parents or even the hospital anticipate paying for,” said Gene DX Director Ashley Arthur.

That was until Senate Bill 1726 passed in May. Under the state’s current healthcare budget, rapid whole-genome sequencing was added as a covered benefit for pediatric Medicaid patients who meet certain clinical criteria.

Now the state will submit a request for approval from the Centers for Medicare and Medicaid Services. If it’s approved by the federal government, the coverage for Medicaid patients could go into effect as soon as Oct. 30 of this year.

The bill describes this as “pilot coverage” meaning the state will fund this rapid genetic testing through 2026.

“One in three babies in the NICU likely have an underlying genetic condition, so Arizona has chosen to cover babies who are sick in the NICU or PICU and are up to one year old,” Arthur said. “I can’t imagine having a baby in the NICU and not understanding the reason behind their symptoms so that’s really I think where Arizona is doing something great is making sure that babies who at least have Medicaid insurance are able to access the testing.”

James says your background or socioeconomic status should not have any relevance to whether you’re able to get this testing. He commends the state for making it accessible to people with Medicaid.

“We’re just so happy that it can be done now and that our patients can get the care that they need and decisions can be made faster and hopefully something positive can be done,” James said.

If you have a baby that is sick in the hospital and you are interested in this testing experts say to speak with your provider to see if this is the best option for you and your child.

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