Mayo Medical Laboratories to Screen Newborns for Life-Threatening Metabolic Disorders

Thursday, June 21, 2001

Mayo Clinic has formed a collaborative agreement with Neo Gen Screening, Inc. to expand Mayo Clinic's supplemental newborn testing for metabolic disorders. Under this agreement, Neo Gen Screening has licensed its proprietary newborn screening technology to Mayo Medical Laboratories, the reference laboratory for Mayo Clinic. This licensing agreement enables Neo Gen Screening and Mayo Medical Laboratories to pursue collaborative activities related to the use of tandem mass spectrometry for neonatal screening.

Mayo Clinic laboratories will use reference values and procedures developed by Neo Gen Screening, an independent laboratory with experience in high-throughput newborn screening using tandem mass spectrometry. Neo Gen Screening was chosen for its data, experience, and overall leadership in newborn screening practices using tandem mass spectrometry. Neo Gen Screening has analyzed blood samples from over one million infants.

"As a result of this agreement, we can dramatically accelerate the process of screening babies for inherited treatable disorders," said Piero Rinaldo, M.D., co-director of Mayo Clinic's Biochemical Genetics Laboratory.

"Individual metabolic disorders although rare, can cause significant morbidity and mortality," said Dr. Rinaldo. "The supplemental newborn screening has the benefit of signaling the need for early treatment in the approximately one in 4,500 babies who have a metabolic disorder detectable by tandem mass spectrometry screening."

According to Dietrich Matern, M.D., also co-director of Mayo Clinic's Biochemical Genetics Laboratory, "This expanded screening program will screen at birth for more than 20 treatable disorders in addition to the present state-mandated screening program, and allow for the initiation of treatment before the infants suffer lasting harm."

The screening is performed on a small sample of blood obtained by pricking a baby's heel before discharge from the hospital, usually on the first or second day of life. The blood is dried on absorbent paper and then analyzed using a tandem mass spectrometer, a state-of-the-art method that detects most metabolic disorders more accurately and rapidly than previous methods. Results are known in 24-48 hours.

"Mayo Clinic's goal is to provide the highest level of patient care available in the United States," said Dr. Rinaldo. "While the Biochemical Genetics Laboratory is already using tandem mass spectrometry for evaluation of at-risk and symptomatic patients as well as postmortem screening for inborn errors of metabolism, this new procedure allows us to rapidly implement newborn screening to protect the health of our smallest patients."

Mayo Medical Laboratories will offer the expanded screening starting this month to Mayo Clinic hospitals in Rochester, Minnesota, and in surrounding areas. Eventually, this service will be available in other areas through Mayo Medical Laboratories, the reference laboratory for Mayo Clinic. By screening for more than 20 disorders, the new program significantly exceeds current state requirements.

The Biochemical Genetics Laboratory within the Department of Laboratory Medicine and Pathology at Mayo Clinic is one of the largest of its kind with an annual processing volume in excess of 250,000 tests. The addition of newborn screening completes the spectrum of Biochemical Genetics services, which consist of prenatal, neonatal, selective (high-risk) and postmortem screening. Mayo Medical Laboratories is the reference laboratory for Mayo Clinic and provides laboratory services to community-based health care organizations throughout the nation. ###

Contact: Suzanne Leaf-Brock 507-284-5005 (days) 507-284-2511 (evenings) e-mail: newsbureau@mayo.edu

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