Fast genome test could help sick newborns

From the day she was born, the baby girl had seizure after seizure as doctors at Children's Mercy Hospital in Kansas City, Mo., frantically tried to keep her alive. Finally, her family decided to let their baby go, and the medical devices were withdrawn. She was 5 weeks old.

Her doctors suspected a genetic disorder, and as it happened, the hospital had just begun a study of a new technique for quickly analyzing the DNA of newborns, zeroing in on mutations that can cause disease.

This new method, published Wednesday in the magazine Science Translational Medicine, is a proof of concept a demonstration that it is possible to quickly scan a baby's entire DNA and pinpoint a disease-causing mutation in a couple of days instead of the more typical weeks or months.

For the study, researchers at Children's Mercy Hospital mapped the DNA of five children. The study's investigators said the test could be one of the first practical fruits of the revolution in sequencing an individual's entire DNA.

For the baby with seizures, her doctors provided a sample of her blood. The analysis took only 50 hours and provided an answer: The baby had a mortal gene mutation so rare that it had only been reported once before.

If only the test could have been done within days of the baby's birth, said Dr. Joshua Petrikin, one of the baby's doctors.

"There was no treatment, there was not anything that could have changed the outcome," Petrikin said. "But we could have more appropriately counseled the family and bypassed what had to have been intense suffering."

The idea behind the test is to take advantage of what is known about disease symptoms to narrow the search for genetic aberrations. And that, said Dr. Joe Gray, an expert in genome analysis at Oregon Health and Science University, "is a good step in the right direction."

"It's a big genome," said Gray, who was not involved with the study. "How do you know what part of it to search?"

The method is expensive, costing about $13,500. It is not yet covered by insurance.

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Fast genome test could help sick newborns