Innovation : May

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Big Screen Tests For Little Ones

By Elizabeth Sagehorn

Babies born in California used to have a better chance of dying from completely manageable conditions than did babies born in much poorer and technologically backward states.
    Until recently, the state had been testing newborns for only four conditions: phenylketonuria, galactosemis, primary congenital hypothyroidism and hemoglobinopathies, including sickle cell disease. More than half a million children are born in California every year and about 500 of them test positive for one of these life-threatening diseases.
    Other diseases, if caught early, can be managed successfully with special diets or medication. Left untreated, however, they can lead to chronic illness, retardation and sometimes death. Some 100-150 children a year were slipping through the net, suffering and dying needlessly.
    “Almost all other states were in the business of expanding newborn screening to include new technology, and we were not the first to embrace that,” tactfully notes Dr. John Sherwin, acting chief of the Genetic Disease Branch at California’s Department of Health Services.
    It was time for the Golden State to update its archaic newborn screening system. Embarrassment at having to use spit and baling wire to keep the more-than-20-year-old computer system together and the emergence of tandem mass spectrometry as a diagnostic tool pushed the project forward. In 2004, Gov. Schwarzenegger and the Legislature approved an upgrade.
    With the new system, which went live in July 2005, the Department of Health Services’ Genetic Disease Branch expects to annually red-flag more than 625 children who might otherwise go on to lead very compromised or short lives.
Continued...

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