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Infant DNA test provides hope to Oregon families

The birth of a baby is a joyous time for Oregon parents and family members. Although most babies are born healthy, some are born with serious illnesses and diseases. Delayed treatment of babies due to failure to diagnose a disease may lead to a worsened condition and spread of disease. Sometimes this can have long-lasting and or even fatal consequences. Although monetary compensation is hardly enough of a remedy for parents and babies that suffer at the hands of a negligent physician, they may be entitled to file a claim for damages nonetheless.

A new DNA test is providing hope for sick infants and their parents. The test quickly analyzes the DNA of newborns, identifying genetic mutations that cause disease. So far the study has shown in four babies that it can quickly and efficiently scan a baby's entire DNA and pinpoint mutations. The test can take as little as 25 hours to complete, instead of the typical weeks or months needed to scan a baby's DNA. Those involved in the study say the test could be one of the first steps in sequencing a person's entire DNA.

The idea behind the test is to use the disease symptoms to search for genetic abnormalities. A computer program is used to search the baby's genes. This method avoids potential ethical problems where findings are made that are not related to the issue at hand. For example, by mapping a baby's entire DNA, researches may discover the baby is at risk for developing Alzheimer's disease as an adult.

Around one in 20 babies in a newborn intensive care unit has a genetic disease. Too often, these diseases are fatal and go undiagnosed. The new test could help give answers to parents and family members. The ability to quickly diagnose genetic diseases is a significant step forward. The new test may potentially save lives, and at the very least it could help bring closure to grieving parents.

Source: New York Times, "DNA Test for Babies Pinpoints Mutations, Speeding Diagnosis," Gina Kolata, Oct. 3, 2012

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