Joseph Orsini, Ph.D., Deputy Director of the Newborn Screening Program

New Tests

At Wadsworth Center, infants are identified as at risk for Krabbe disease when galactocerebrosidase (GALC) enzyme activity is reduced and at least one mutation in the GALC gene is detected. The difficulty with a Krabbe disease diagnosis is in predicting when the disease develops, which could be anywhere from infancy to adulthood. Whereas hematopoietic stem cell transplant (HSCT) is performed in short order for early-onset infantile Krabbe disease, neurological tests to monitor for disease progression is the approach for later-onset forms. Such testing over years is burdensome. Dr. Orsini designed and carried out the first study to show the importance of psychosine, a substrate of the GALC enzyme, in assessment for Krabbe disease. This marker is found in very low concentrations in dried blood spots and detection of increased levels enables laboratories to quickly identify newborns with infantile Krabbe disease versus later-onset forms.

For the second year in a row, a Wadsworth Center director has received the Harry Hannon Laboratory Improvement Award in Newborn Screening from the Assocation of Public Health Laboratories (APHL). Joseph Orsini, Ph.D., Deputy Director of the Newborn Screening Program at the New York State Department of Health's Wadsworth Center, received the award at the APHL Newborn Screening and Genetic Testing Symposium in New Orleans. Last year, the award was presented to the Director of the Program, Michele Caggana, Sc.D., FACMG.

APHL presents this award to individuals “who have had a direct effect in improving the quality of laboratory results for the newborn screening system in one or more of the following areas: assuring the quality of testing; enhancing the specificity of tests; establishing new, creative laboratory approaches and technologies; providing laboratory training/education for new technologies and tests; or improving the detection of newborn disorders/conditions.” With Dr. Orsini, APHL can check all these boxes.

Because of Dr. Orsini’s experience and extensive knowledge of the analytical test methods for Pompe disease, X-linked adrenoleukodystrophy (ALD), and mucopolysaccharidosis I (MPS I), he is often called upon to advise other state programs as they develop methods and implement tests for these genetic disorders. He is contributing to a popular series of webinars sponsored by the APHL Quality Assurance / Quality Control subcommittee on these topics.

Dr. Orsini is a lead author of a forthcoming chapter on Krabbe disease in GeneReviews. He has recently published two review articles on lessons learned from screening for Krabbe disease, which can be applied to newborn screening for all lysosomal storage disorders. Lysosomal disorders are rare metabolic diseases that occur as the result of defective enzymes in cells.

Improving Quality
As chair of the Krabbe Disease Newborn Screening Task Force of Hunter’s Hope, a national group of newborn screeners, clinicians and treating physicians, he has helped to develop newborn screening recommendations for laboratories, ensuring the best possible outcome of screening. This project has culminated in a paper currently in press.

Enhancing Tests
Next, the Krabbe Disease Newborn Screening Task Force will evaluate psychosine levels and perform genetic studies to determine which screen positive infants are at highest risk for late-onset forms of Krabbe disease. They will also develop recommendations for following these patients.

Thanks to the dedication of Dr. Orsini and those in the Newborn Screening Program, New York is one of the most advanced laboratories for newborn screening in the nation. The program tests over 250,000 samples annually, screening for 47 disorders. Testing is free of charge to families in New York State. As one of the first laboratories in the nation to introduce many tests, Wadsworth Center has won a Peer Network Resource Center grant from the federal Health Resources and Services Administration (HRSA) and is in turn training other laboratories to bring these tests on-line.

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