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Two-day test can spot gene diseases in newborns

By LAURAN NEERGAARD Published: October 4, 2012
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That's an estimate: The study counted only the time the blood was being decoded or analyzed, not the days needed to ship the blood to Essex, England, home of a speedy new DNA decoding machine made by Illumina, Inc. — or to ship back the results for Children's Mercy's computer program to analyze. Kingsmore said the hospital is awaiting arrival of its own decoder, when 50 hours should become the true start-to-finish time.

Specialists not involved with the study said it signals the long-promised usefulness of gene-mapping to real-world medicine finally is close.

“Genomic sequencing like this is very practical and very real now,” said Dr. Arthur Beaudet of the Baylor College of Medicine, which also is working to expand genomic testing in children. “Fast forward a year, and I think this kind of thing will probably be pretty routine.”

Kingsmore said the speedy test should cost $13,500, and more study is needed for insurers to cover it. But keeping a newborn in ICU costs $8,000 a day, and one question is if the rapid gene-mapping could shorten those stays or avoid futile care, he said.

Among the babies tested was one born with his organs on the wrong side of his body and needing emergency heart surgery. His parents had been told that it was a fluke that his older brother was born the same way, but the new test found an inherited genetic culprit that Kingsmore said will help doctors predict both boys' future treatment needs.

Three other newborns in the study died and the new test uncovered the cause of death for two of them. Kingsmore said that allowed researchers to tell parents that nothing they did during pregnancy was to blame, and to counsel them about the risks of future pregnancies.

After the study concluded, the team has performed rapid gene-mapping with additional families. It uncovered the cause of a mother's two stillbirths, allowing for assisted reproduction to help her next pregnancy be healthy, said Children's Mercy laboratory director Dr. Carol Saunders.


Read the rest of the story on Oklahoman.com
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