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Division of Genetic and
Metabolic Disorders Plays Important Role in Michigan’s Newborn Screening
It starts with a pin prick and a drop of blood on a piece of filter paper. The State of Michigan requires every newborn to be screened for a panel of genetic disorders and other conditions. Of the approximately 116,000 infants born in Michigan in 2009, 99.5% were screened through the state’s Newborn Screening program — and the Children’s Hospital of Michigan plays an important role in the process.
"The rationale is quite simple: If there’s a disorder that can
be identified and treated before symptoms develop, then it makes
sense to screen for it when an infant is first born," said Gerald L. Feldman, M.D., Ph.D.,
FACMG, Director of Clinical Genetics Services and the Newborn
Screening Management Program at the Children’s Hospital of
"Whether a child is born in the Upper Peninsula, Grand Rapids or the Metro Detroit area, they are referred to the Children’s Hospital of Michigan for confirmation of a positive screen," Dr. Feldman said. "Of course, not all of the infants referred to us actually turn out to have an inherited metabolic disorder. The initial test is just a screen, so there are occasional false positives."
For example, 124 positive screens were referred to Dr. Feldman’s team for confirmation in 2009. Of those, 78 were confirmed as inborn errors of metabolism.
The state chose to centralize confirmation and management of genetic and metabolic disorders at the Children’s Hospital of Michigan in 2004, the same year Michigan adopted national recommendations to screen for 49 different disorders instead of just the 11 that were then screened in Michigan. According to Dr. Feldman, the state made the decision on the basis of recommendations made by a national newborn screening site visit committee. At that time, the Children’s Hospital of Michigan was the state’s only full-service, free-standing pediatric hospital with board certified specialists in biochemical genetics and a multidisciplinary team of metabolic specialists.
"More than just confirming disorders, we manage care for these infants," Dr. Feldman said. "Ultimately, our goal is to treat patients before symptoms develop and that sometimes requires hospitalization to prevent patients from progressing to a life-threatening situation."
The Newborn Screening Program at the Children’s Hospital of Michigan offers a multidisciplinary approach to patient care. In addition to board certified specialists in metabolic disease, the program is staffed by specially trained metabolic dietitians, nurse practitioners, nurses, a clinical psychologist, a social worker and a genetic counselor.
"Our patients are evaluated by all of our team, as needed," Dr. Feldman said. "That’s a big difference in our program versus what might be offered in other states."
While the Children’s Hospital of Michigan is a pediatric specialty hospital, management of patients with inborn errors of metabolism is lifelong. "Come to our clinic and you’ll see infants as well as patients who are 40 years old," Dr. Feldman said.
Newborn Screening Saves Lives
Last reviewed: December 2010
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