Results In Days Instead Of Weeks

DNA tests normally take weeks, but Missouri researchers have developed a way to get faster results -- which means genetic diseases can be detected earlier.

Mom and her newborn in the hospital

Standard newborn screening only detects up to 29 rare genetic and metabolic diseases, but 20 percent of infant deaths are due to genetic disease or birth defects. Now, scientists at Children’s Mercy in Kansas City, Missouri have combined faster gene analysis with a computer program that, working together, will provide answers sooner than later.

Faster times equal earlier answers

The child’s blood is sent to the UK where a very fast DNA decoding machine is available, and then shipped back to Children’s Mercy for computer analysis, which is compared to the signs or symptoms the child is displaying. Doctors and parents can then know what issues their child faces and, if treatment is available, it can begin right away instead of being forced to wait because there weren’t any answers.

In cases where the diagnosis is fatal, parents and their child’s physicians can concentrate on making baby comfortable, instead of investing time, money and hope in treatments that cannot work. Parents will have a definitive answer and may appreciate the time they have with their child without additional stress put on them and their baby by futile treatments.

The future

Researchers hope that this sort of screening will become more routine in the years to come. Children’s Mercy is waiting on their own machine which will bring the time needed to test down even more. The blood test results combined with computer analysis and symptoms the baby is displaying are the keys, and someday, hopefully this technology will be available for all parents.

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