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New Guidelines Issued for Genetic Screening in Newborns, Children
Date:2/21/2013

By Denise Mann
HealthDay Reporter

THURSDAY, Feb. 21 (HealthDay News) -- New guidelines on testing newborns and children for genetic diseases recommend screening for childhood diseases but note that testing for diseases that strike in adulthood may not be worthwhile.

About 4 million infants in the United States undergo newborn screening each year, but further genetic testing -- while increasingly available -- is less common. Newborn screening panels vary from state to state.

All newborns should be tested for the genetic diseases that are included in their state's newborn screening panel, but anything beyond that is up to parents and the decision must be made in the child's best interest, according to the revised policy statement from the American Academy of Pediatrics and the American College of Medical Genetics and Genomics. The new guidelines are published online Feb. 21 in the journal Pediatrics.

The recommendations distinguish between genetic testing for childhood-onset conditions versus those for adult-onset conditions. For kids who may be at risk for a childhood disease, testing is worth considering, the guidelines state, but the same does not hold true if the child is thought to be at risk for a disease that strikes in adulthood.

"There is an important role for counseling before and after genetic screening," added policy author Dr. Lainie Friedman Ross, a pediatrician and ethicist at the University of Chicago. "The focus should be on education of families, counseling them and helping them make decisions that focus on the child's best interest."

The new guidelines do not call for any specific genetic tests; instead they recommend mandatory offering of state newborn screening panels. "We believe that if parents are informed that the benefits outweigh the risks, that they will give their permission, given that all states screen for at least the uniform panel and it is included in costs of
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