Certain medical conditions can be present at birth but not easily identifiable. Metabolic or inherited disorders can impede a child’s normal physical and or mental development in lots of different ways. Without even knowing that they are carriers, parents can pass on the genes that produce these types of disorders. That’s where genetic screening of newborns comes in. With a simple blood test doctors can tell if the newborn has a condition that may eventually cause the child problems. Some of these disorders, if treated early, can be managed.

The federal government has not set any national standards, but many states have mandatory newborn screening programs. Parents can opt out of genetic testing if they want. Parents should discuss genetic screening with their pediatrician or child’s doctor so they can weigh the pros and cons.

Many states screen for more than 30 disorders and the screenings are often covered in the delivery and hospital charges. If a parent wants expanded testing on their newborn, they may have to pay an extra cost but it may be worth it to their baby.

To help guide states and parents determine what criteria should be used for genetic screening, the American Academy of Pediatrics and the American College of Medical Genetics and Genomics just offered new guidelines.

The new guidelines say that 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.

The recommendations distinguish between genetic testing for childhood onset conditions versus those for adult onset conditions.

"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."

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.

She also said that the results should be explained to the child when they reach the appropriate age.

New technology offers direct-to-consumer genetic screening tests, but the authors caution parents about using these products because of a lack of oversight and results are open to interpretation.

Some experts agree that being forewarned is being forearmed, but are not fans of the direst-to-consumer genetic tests.

"We highly discourage these even on adults, and particularly on children, because there is nobody there to provide counseling and interpretation," says Dr. Joyce Fox, a medical genetics doctor at North Shore University Hospital in Manhasset, N.Y. “These can also be very costly, and are likely not covered by insurance." Fox says.

Parents should educate themselves about genetic screening before the baby is born.  Most babies are born healthy and glide right through the genetic screening. But there are cases when the genetic testing panel reveals serious conditions such as PKU or Sickle Cell Anemia. 

If a baby’s screening results are negative, it means the tests did not show any signs of the conditions in the screening. On the other hand, if there are any positive results, it means there are signs of one or more of the conditions included in the screening,

A positive result does not always mean that the baby has the condition. It does mean though, that further testing is needed to make a final determination.

Early treatment for some of the conditions screened for can prevent serious future complications; so don’t delay if more tests are needed.

Pediatricians and geneticists say they approve of the new guidelines. The guidelines were published online in the journal Pediatrics.

Sources: Denise Mann, http://consumer.healthday.com/Article.asp?AID=673692

http://kidshealth.org/parent/system/medical/newborn_screening_tests.html#cat150