New research published in the journal Science Translational Medicine this week makes the case for a two-day whole-genome sequencing for newborns in a neonatal intensive care unit (NICU).
After 50 hours, the test delivers to doctors a wealth of information about what could be causing newborns’ life-threatening illnesses. This would allow them to more efficiently and quickly tailor therapies to the babies, when possible, and identify problematic genetic variants that multiple family members may share.
“We think this is going to transform the world of neonatology, by allowing neonatologists to practice medicine that’s influenced by genomes,” said Stephen Kingsmore, the study's senior author and director for the Center for Pediatric Genomic Medicine at Children’s Mercy Hospitals and Clinics in Kansas City, Missouri, at a press conference Tuesday.
There are more than 3,500 diseases caused by a mutation in a single gene, Kingsmore said, and only about 500 have treatments. About one in 20 babies born in the United States annually gets admitted to a neonatal intensive care unit, he said. Genetic-driven illnesses are a leading cause of these admissions at Kingsmore’s hospital.
One example of how a genetic test would help newborns is a condition called severe Pompe disease, Kingsmore said. Children with this disorder die if they are not treated by age 1. They will live longer, at least four years, if they receive an enzyme replacement therapy.
The study shows how two software programs, called SAGA and RUNE, work together to help physicians pinpoint the genes that could be causing problems in the children. A company called Illumina developed a rapid genome sequencing device that incorporates the programs.
Researchers reported diagnoses as a result of this genetic test in the study for six children. Two of these tests were done retrospectively, after the children had died.
The test extends beyond the ill baby; genome sequencing can also identify genetic traits in multiple family members, the researchers said. Carol Saunders, the study's lead author, explained at the news conference how one baby and his 6-year-old brother both have a congenital heart defect and heterotaxy, meaning some internal organs are located on the wrong side of the body.
While some children will still die from incurable genetic disorders after being tested for them, the knowledge about diagnosis and likely outcomes for future children is beneficial for parents, experts say.
“Knowing the marker or defect may provide some information regarding the prognosis so the family knows what to expect,” Saunders said. "Importantly, it also allows them to have accurate genetic counseling regarding their risk to have another affected baby, and to make informed decisions about their reproductive future.”
Families value the diagnoses derived from this genetic test because it gives an answer, and alleviates guilt that something happened during pregnancy, Kingsmore said in an e-mail.
“It gives time for maternal bonding and saying goodbyes and last rites that can be planned,” Kingsmore said. “This is all complex but very real.”
The test costs roughly $13,500, but costs of whole-genome sequencing are quickly falling – experts believe a $1,000 genome sequence is not far off, Kingsmore said.
Children’s Mercy Hospital plans to offer this testing before the end of the year. Next year, Kingsmore and colleagues plans to offer testing at other hospitals for NICU patients.
Kingsmore estimates that about 5,000 babies a year could benefit from this technology.
“Ultimately, it will be used for every child with an illness that may be due to a genetic disease,” he said.
It made sense to start with the NICU because of the costs involved, he said.