newjerseynewsroom.com

BY BOB HOLT

NEWJERSEYNEWSROOM.COM

More than 20 percent of the deaths of newborns today result from birth defects or genetic diseases. Now researchers in Kansas City are working on a DNA test that would help babies at risk.

DNA sequencing has been the primary method used to detect genetic diseases, but it is expensive and can take four to six weeks to return results. Now, according to Bloomberg Businessweek, researchers created new software that reads data from DNA scanning machines and diagnoses genetic disorders in about two days.

Mail Online reported that genetic sequencing involves analyzing 3.2 billion chemical bases that comprise the genetic code. Many of the 3,500 rare conditions are fatal, but around 500 can be treated.

Stephen Kingsmore, of Children’s Mercy and senior author of the study says their software includes 600 genetic diseases that affect children, and the team expects to put all of the 3,500 genetic diseases in the system by the end of 2012.

The two-day period amounted to “a best-case scenario” said Wendy Chung, a geneticist at Columbia University. She said a more realistic time period to see results would be a week.

Researchers mapped the DNA of one baby that needed heart surgery because he was born with his organs on the wrong side of his body. According to an Associated Press story on kcby.com, the test discovered the genetic cause, similar heart problems in his 6-year-old brother.

Three other infants who were analyzed died, but the new test found the cause of two of the deaths. Kingsmore said that enabled the researchers to absolve the parents of any blame during pregnancy.

Kingsmore estimated the total cost of the DNA test to be around $13,500. They next want to expand the test to include 100 or more babies to determine its benefits.