One hospital in Missouri is looking to genomics technology to save newborns, according to an article in MIT Technology Review.
In one instance, using rapid DNA sequencing and analysis, doctors at Children's Mercy Hospital in Kansas City were able to identify the genetic mutation keeping a baby girl from eating and growing, one of two dozen critically ill infants whose genomes have been scrutinized by doctors using fast whole-genome analysis treatment.
"The hospital team identified the cause of her problems--a genetic disorder that can be treated with intensive nutritional support and vitamins to stimulate her mitochondria, the powerhouses of cells--and ruled out other progressive and often fatal conditions," the article states. "In other words, the genomic diagnosis helped shape her clinical care, pointing the way to the nutritional supplements the girl needed to improve and the best way to feed her."
For the next five years, the Children's Mercy doctors will analyze the genomes of hundreds more babies born with negative disorders to fully understand the benefits of two-day genomic diagnoses. The hospital in September received a $5 million grant from the National Institutes of Health to study the benefits and risks of using rapid genomic sequencing on severely ill newborns. According to an announcement, the research will involve 1,000 infants; doctors will use rapid sequencing for half of them.
While gene tests and whole-genome analyses usually take weeks, the hospital has quicker computational tools that can quickly identify the "potentially medically relevant variations" in a patient's three billion base pairs, according to Technology Review.
"We can make more educated decisions," Sarah Soden, medical director of the genome center of Children's Mercy, told Technology Review. "The ability to cast a wide net and look at all relevant genes is very helpful for newborns who may not have fully presented with all of a disease's classic features."
In April, it was reported that better standards are needed for how discoveries in genomic medicine are found and recorded as health information technology develops, according to researchers from Harvard and the Mayo Clinic who published a viewpoint in the Journal of the American Medical Association.
In an interview with FierceHealthIT prior to HIMSS13, Eric Topol, a professor of genomics at The Scripps Research Institute in San Diego, talked about the importance of genome testing for patients, but said the industry remains a long way away from such procedures becoming routine.
"There have only been tens of thousands of people in the world who have had whole genome sequencing," Topol said. "We need millions with various conditions before we know what whole human genome sequences need. We only know of our common variations right now, but most of the important stuff is a low-frequency, rare variance. We know relatively little about that."
In September 2012, the National Institutes of Health announced $18.7 million in grants for research projects to improve human gene-sequencing.
However, a robust bioinformatics infrastructure, including computing power and high-level expertise, will be key for laboratories that want to run next-generation sequencing of DNA, an article in the Journal of Molecular Diagnostics asserts.
To learn more:
- read the article in MIT Technology Review
- read the announcement from Children's Mercy Hospital
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