Newborn Screening is Now National Policy, Thanks to Miller School Advocacy

Five years ago, Miller School faculty played a key role in convincing the state of Florida to expand its newborn screening program to test for more than 30 inherited but treatable disorders. Now, that same persistence has prompted U.S. Health and Human Services Secretary Kathleen Sebelius to approve a similar national standard for screening all newborns in the United States.

Late last month, Sebelius officially notified R. Rodney Howell, M.D., former chair of pediatrics at the Miller School now on assignment as senior advisor to the director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, that she is adopting as a national standard a recommendation that every newborn in the United States be screened for 30 disorders that require immediate intervention. As chairman of the panel that made the recommendation, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, Howell led the six-year effort to establish the national guidelines.

Now, he’s hopeful every state will have added incentive to meet them.

“We have had newborn screening in the United States since the late 1960s and early 1970s, but there have been a lot of variations from state to state because there hasn’t been any formal national standard,” Howell said. “In other words, the federal leadership has not said, ‘We think this is what you ought to do.’ So, we’re really excited that Secretary Sebelius not only accepted the recommendation, but made it a national standard. That means, for example, that when New Mexico or Arizona is looking at newborn screening they will have national guidance for the first time.”

Through a simple prick of an infant’s heel, more than 4.3 million newborns are screened nationwide every year for a number of heritable disorders that, if left undetected and untreated, will disrupt endocrine, metabolic or hemoglobin function, and, in some cases, threaten their lives.

In 2005, Florida was screening newborns for only seven of the disorders, plus hearing. Today, that number stands at 35, thanks in large measure to the advocacy of Howell, Louis Elsas, M.D., now interim chair of biochemistry and molecular biology, and other Miller School faculty who served on the state’s Newborn Screening Advisory Council and lobbied the state to expand its infant screening program.

And although heritable but treatable disorders are rare – only 295 of the roughly 230,000 children screened in Florida in 2008 were found to have one – the benefits of screening are substantial. If those newborns were promptly referred to a genetics center, like the Miller School, for diagnosis and management of their disorders, they had immeasurably improved outcomes, and drastically reduced hospital and other medical bills.

As Howell notes, a strict diet can make the difference between a normal life and severe retardation, as is the case with phenylketonuria, or PKU, a condition in which newborns lack the enzyme needed to properly break down the amino acid phenylalanine.

“The classic screening test we first introduced was for PKU, which we’ve not seen untreated in children in the developed world for a long time,” Howell said. “But untreated PKU patients have an average IQ under 30.”

In addition to PKU, and other metabolic, endocrine, hemoglobin and vitamin disorders, the new national standard calls for screening of severe combined immunodeficiency, or SCID. The disorder, which knocks out part of the immune system, leaves babies vulnerable to bacteria, viruses and fungi that other people easily resist. Untreated, they usually die within a year, but with a bone marrow transplant soon after birth, they may live into their 20s, possibly longer.

Florida is not yet screening for SCID but, guided by the new standard, health officials hope the state will be doing so within a year.

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