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

birth hospitalization," Friedman Ross said.

Testing for disease in the presence of symptoms is another area addressed by the new recommendations. "Clearly, if a child has symptoms, we need a diagnosis to help the family make clinical decisions that are in the child's best interest. This is important even when the disease has no current therapies," Friedman Ross added.

Kids should also be informed of the results when they reach an appropriate age, she added.

The guideline authors caution against using direct-to-consumer genetic screening tests, because there is no oversight and the results are open to interpretation.

Pediatricians and geneticists said they are on board with the new recommendations.

"In newborns, we look for things that are treatable and have interventions that will have a significant impact on the child," said Dr. Marshall Summar, division chief of genetics and metabolism at Children's National Medical Center in Washington, D.C.

But "it's a moving target," he said. "We have to constantly reassess this as the technology and our understanding of what the results mean changes."

There are risks when it comes to broad-based gene screens outside of traditional newborn screening panels, said Dr. Parul Jayakar, a clinical and metabolic geneticist at Miami Children's Hospital. "We may find things that never come to fruition or results that we can't fully interpret yet," he explained.

However, there are also cases were being forewarned is being forearmed, said Dr. Joyce Fox, a medical genetics doctor at North Shore University Hospital in Manhasset, N.Y.

If there is a family history of a genetic disease, even adult-onset ones, there are some instances where knowing this early will make a difference. This includes certain cancers, including a rare type of inherited colon cancer. "We would want the information earlier so we can do appropriate surveillance on the children and prevent the onset of significan
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