Newborn genetic screening: Update following Nov. 20 Wall Street Journal story

Wednesday, November 27, 2002

ROCHESTER, MINN. — Laboratory screening tests for metabolic disorders in newborn children are available nationally and internationally through Mayo Medical Laboratories. This was the subject of a Nov. 20 article appearing in the Wall Street Journal called "Anxious Parents Pay Labs for Extra Tests on Infants."

Babies born in hospitals throughout the nation and abroad now can be screened for more than 30 metabolic disorders. Combined, these disorders affect about one in 4,000 newborns.

Metabolism — the process of turning food into energy — involves thousands of steps. A defective gene can make the process go awry, sometimes soon after birth. The disorders can cause severe illness and consequences including mental retardation and death. Though a defective gene in the baby causes the disorders, parents likely would not know they carried such a gene.

If a child's disorder can be detected before symptoms appear, in most cases, effective treatments can be administered, according to Dietrich Matern, M.D., a pediatrician, geneticist and co-director of Mayo Clinic's Biochemical Genetics Laboratory. "Simple adjustments in diet can help many children with metabolic disorders grow and develop normally," Dr. Matern adds.

Test results are available to families in 24 to 48 hours. If results indicate a metabolic disorder, the family is referred to a specialist in metabolic disorders for an immediate evaluation and confirmation.

Ordering the tests
Patients who are interested in ordering these tests may request them through their physician. Physicians or hospital laboratory managers should call Mayo Medical Laboratories at 1-800-533-1710 or 1-507-266-5700 for more information.

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Contact:
Tom Huyck 507-284-0003 (days) or 507-284-2511 (evenings)
e-mail: newsbureau@mayo.edu

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