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Study: Genetic Test Diagnoses Babies With Unknown Diseases Quickly, Saves Money

The neonatal intensive care unit at Rady Children's Hospital in San Diego. Ap...

Photo by Megan Wood / inewsource

Above: The neonatal intensive care unit at Rady Children's Hospital in San Diego. April 12, 2017.

State data shows thousands of newborn babies are born with rare, critical conditions that cause them to go to the neonatal intensive care unit. New results from a state study show one technology — rapid whole genome sequencing, or decoding a person's DNA — can provide a quick and cost-effective solution, even for families on state health insurance.

Five hospitals across the state participated in the 2018 study called "Project Baby Bear" that provided $2 million for newborn babies to go through rapid genetic sequencing. And the study finds nearly half of those babies with unknown conditions were able to receive a diagnosis through the technology. And about one-third of those babies received updated treatment plans that helped their health outcomes.

Dr. Stephen Kingsmore is the CEO of participating institution Rady Children's Institute for Genomic Medicine.

"Looking throughout the genome code, or DNA, is like looking through the code of life. It's the instructions for making a human being," said Kingsmore, who says there are thousands of genetic diseases babies can have from an oddity in a DNA sequence.

Reported by Shalina Chatlani

"We do that, number one, by decoding the entire genome and analyzing it. And second of all, by looking at what's going on in the baby, the symptoms, the signs, the abnormal lab values, and comparing that with what these 7,000 or 8,000 [known] genetic diseases look like in the textbooks."

They estimate based on state data that around 40,000 babies end up in ICU, and around 20,000 have critical conditions. According to Rady, around 20% of the babies with rare conditions who make it to neonatal intensive care unit, or around 4,000, could benefit from genome sequencing.

Kingsmore says the whole process can take a few days and allows doctors to cast a wide net to find the one genetic condition. The alternative, he says, can amount to months of hospital stay, years of inexact and expensive medical treatment, or the family never gets an exact diagnosis.

"Frequently, families would not know the trigger for their child's condition for months or years. And in fact, some of the children were teenagers before they would know that they actually had a genetic disease. And obviously, that's tragic if that's a treatable condition," Kingsmore said.

Throughout the study babies received diagnoses for 35 rare conditions that occur in one out of 1 million babies.

But, Kingsmore says the merits of whole rapid genome sequencing have been known for some time. What the study really hoped to show was whether the technology, which can be rather expensive, can still save money in healthcare costs.

All of the babies in the study came from Medi-Cal families. And preliminary financial results from the study showed genetic sequencing was not only effective in providing a diagnosis, but saved money from reduced hospital stay time, says Bryce Waldman, a market analyst at Rady Children's Institute for Genomic Medicine.

"A large majority of the savings, approximately 94% were from reduced inpatient days. Because of sequencing and the rapid diagnosis, the baby quickly was able to leave the hospital and didn't have to stay in another week, two weeks, even months," Waldman said.

Waldman says the cost of an ICU stay can be around $3,000 to $4,000 a day, and that cost can rise when other procedures are tacked on. The benefit to private healthcare insurers is obvious, he said.

And the study found that for these patients on state health insurance, the cost savings from reduced inpatient time alone, amounted to over $2 million dollars.

"It seems like regardless of who is paying for care, it's going to be a beneficial outcome," Waldman said.

Kingsmore adds that there's an equity impact to adding this technology to state health insurance as well.

"So up until now, babies whose insurance claims are paid for by Medical don't get this benefit. Some babies are insured by private insurance, such as Blue Shield of California. They do," Kingsmore said.

"There's a policy to say if your baby needs this, it will be reimbursed. And so we have this disparity in California where some get it, some don't."

Kingsmore said participants hope to present the results to state legislators to argue genetic sequencing ought to be covered by state insurance. Right now, he says, that might be challenging as the main priority is caring for people impacted by COVID-19.

Listen to this story by Shalina Chatlani.


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Photo of Shalina Chatlani

Shalina Chatlani
Science and Technology Reporter

opening quote marksclosing quote marksI cover all things science and technology — from the biotech industry in San Diego to rooftop solar energy on new homes. I'm interested in covering the human side of science and technology, like barriers to entry for people of color or gender equity issues on biotech boards.

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