Just the beginning: newborn screening and tracking diagnosed children into adulthood varies among states.

• Author: Johnson, Alissa
• Position: SCREENING NEWBORNS

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Stephen Monaco's life was forever changed on May 30, 2001. That morning the normally energetic 3-year-old who loved Clifford the Big Red Dog was found unresponsive. Today Stephen sits in a wheelchair, brain-damaged and fed through a G-tube. Next to him, his sister Caroline is a vibrant, healthy 5-year-old. One would never guess that these siblings share the same condition: isovaleric acidemia. For Caroline, the disease was caught early, and she was treated immediately at birth.

Stephen and Caroline's mother, Jana Monaco, is quick to point out that Stephen finds joy in his life expressed through laughter and smiles, but her hopes and dreams for her once healthy son were changed overnight with the sudden onset of illness--a bitter pill to swallow with the knowledge that newborn screening could have detected his condition, allowing for treatment and thus preventing the disorder's devastating consequences.

Today, newborns are screened for Stephen's condition in his home state of Virginia as a result of legislation sponsored by Senator Linda "Toddy" Puller. It consoles Stephen and Caroline's mother that babies with their disorder will be identified in the future and have Caroline's quality of life rather than Stephen's.

"Newborn screening at the current time is by far the most common form of genetic testing being done," says Dr. Rodney Howell, chair of the federal Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. "Almost 90 percent of the babies in the country are getting about 30 tests. That's over a hundred million genetic tests being done a year."

TESTING AND FOLLOW-UP VARIES

All states have well-established newborn screening programs and many have expanded them in recent years. In 2005, the American College of Medical Genetics released a report recommending screens for 29 core conditions and identifying 25 other conditions that could be detected in the same screening. According the National Newborn Screening and Genetics Resource Center, as of February 2008, 37 states require screening for at least 30 disorders with some doing as many as 50, but only 12 states actually screen for the core 29.

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In addition, what states do to track children who have been identified with a disorder as they grow into adults varies from state to state.

"There is no systematic way currently in the country where any of these children are followed in an organized fashion," Howell says. "That obviously creates an enormous problem for two reasons: You do not know what has been the outcome for these children and there is no standard way of treating them."

Howell says the federal advisory committee is looking for ways to follow...