New Test Can Diagnose Genetic Disorders in Infants in 50 Hours

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Researchers at Children's Mercy Hospital in Kansas City, Mo., may have hit upon a way to dramatically speed up how fast an infant can be tested for genetic disorders, according to reports by the Associated Press and other media outlets. The hospital announced on Wednesday that it had discovered a way to use a combination of gene-analyzing machinery, computer software, and a baby's symptoms to rapidly narrow down the list of possible causes for the infant's illness.

The initial study conducted by the hospital was small, involving just a few children. The results of the testing model were so promising, however, that the hospital plans to begin using it to help diagnose all ill infants that end up in its neonatal intensive care unit by the end of the year.

Here is some of the key information regarding this new way to use genome-mapping to help diagnose genetic disorders in infants.

* Dr. Stephen Kingsmore, who is the head of the pediatric genome center at Children's Mercy Hospital, told the Associated Press on Wednesday that in addition to using the test in their own hospital, researchers may offer it for use by other hospitals around the country as well, even though the research itself is ongoing.

* Children's Mercy Hospital's test can provide results in a little over two days, at 50 hours from the moment that blood was drawn. Current technology allows for diagnosis in an average of 12 to 14 days, according to Fox News.

* According to a BBC News report, up to one-third of all infants admitted to neonatal intensive care units are there because of genetic disorders, 3,500 of which have been tied to specific genes, some of which can be rare, making diagnosis very difficult.

* Researchers hope to be able to use this new testing model to be able to help determine a course of treatment for ill newborns far earlier, or to be able to determine that treatment would be futile. Currently, about 500 of the 7,500 known genetic disorders are treatable, according to a New York Times report.

* The Fox News report pointed out that while some genetic disorders are untreatable, others, like phenylketonuria (PKU), can be treated if caught early enough. The new test could theoretically greatly increase the time in which doctors could begin providing treatment by catching rare disorders like PKU faster.

* Researchers reportedly first used the test on babies whose genetic disorder had been discovered during autopsy. After the test correctly pinpointed which genetic disorder had killed the infants, it was then used on four more babies in Children's Mercy Hospital's neonatal unit, where it correctly identified the root cause of three of the four infants' illnesses.

* While the test will continue to undergo further study, Dr. Joe Gray, who works in genome analysis for Oregon Health and Science University, told the New York Times on Wednesday that it was "a good step in the right direction."

Vanessa Evans is a musician and freelance writer based in Michigan, with a lifelong interest in health and nutrition issues.

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