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New Guidelines for Genetic Testing in Children Issued by AAP

Update Date: Feb 23, 2013 02:10 PM EST

As access to genetic testing continues to expand and interest in genetics and genomics rises, groups representing pediatricians and geneticists issued new recommendations on Thursday when it comes to testing a child's DNA for genetic conditions.

In a joint statement from the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP), they say testing for genetic diseases that strike in adulthood may not be worthwhile.

According to the new guidelines, each newborn is required to get tested for the genetic diseases that are included in their respective state's screening panel. However, should the parents desire further genetic testing, that decision is entirely up to them and should be made in the child's best interest.

Testing children for diseases that don't affect people until adulthood, however, should be discouraged unless a childhood treatment may decrease the risk of complications or death, according to the report. The guidelines are not binding, but rather recommendations for how physicians should ideally proceed as genetic testing grows increasingly more complex.

However, newborn screening "shouldn't just be offered. It should be strongly encouraged, because the benefits far outweigh the risks," says Dr. Lainie Friedman Ross, a professor of pediatrics and clinical ethics at the University of Chicago and the statement's lead author.

Many parents don't even realize their infant is being tested, so the new statement emphasizes the importance of asking parents if they want the testing. "This might take a little bit more time, but I believe parents will make the right decisions," says Ross.

"Genetics is changing rapidly before our eyes. The growing literature on the psychosocial and clinical effects of such testing and screening can help inform us about best practices," Ross and colleagues stated in the report.

Any such testing should preferably be done in conjunction with appropriate genetic counseling by a trained provider, and not in a school setting where privacy and confidentiality cannot be ensured, they advised.

"The first thing is what hasn't changed and the most important thing is (that) what is best for the child should be front and center for everything in pediatrics," Ross said.

The report from ACMG was published online February 21 in Genetics in Medicine; the AAP summary report also was published online February 21 in Pediatrics.

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