Summary
There is little consistency in newborn screening procedures. Some hospitals may screen for 35 diseases, while another may only screen for four. Officials are recommending that newborns be screened for 29 potentially fatal diseases. Controversy surrounds the recommendation as parents and health care providers discuss the implications of such rigorous testing.
Original source:
http://www.heraldtribune.com/apps/pbcs.dll/article?AID=/20050221/ZNYT02/502210685
Details
An influential federal advisory group plans to recommend in the next few weeks that all newborns be screened for 29 rare medical conditions, from the well known, like sickle cell anemia, to diseases so obscure that they are known to just a handful of medical specialists and a few dozen devastated families.
But while no one argues with the idea of saving babies, the proposed screening is generating fierce debate.
When testing is not done, parents often end up in a medical odyssey to find out what is wrong with their child.
By the time the answer is in, it may be too late for treatment to do much good.
But opponents say that for all but about five or six of the conditions, it is not known whether the treatments help or how often a baby will test positive but never show signs of serious disease.
There is a danger, they say, of children with mild versions of illnesses being treated needlessly and aggressively for more serious forms and suffering dire health consequences.
And both sides agree that the tests unintentionally pick up about 25 other conditions, in addition to the 29 that the screening is intended to find.
The history of newborn screening, they say, is filled with cautionary tales.
"The majority of newborn screening tests have failed," said Dr. Norman Fost, a professor of pediatrics and director of the program in medical ethics at the University of Wisconsin.
To those who ask what is wrong with simply doing every available screening test, Dr. Fost tells what happened with PKU, the first genetic screening test for
newborns.
In 1959, Dr. Robert Guthrie, a microbiologist at the University of Buffalo whose niece had PKU and who was passionate about stamping it out, developed a simple blood test for the condition.
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