How Tandem Mass Spectrometry Revolutionized Newborn Screening

David S. Millington
Duke University School of Medicine

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David Millington (Presenter) Duke University School of Medicine

Presenter Bio: David S. Millington, PhD, is Emeritus Professor of Pediatrics, recently retired from Duke School of Medicine. He and his colleagues pioneered the application of tandem mass spectrometry for the targeted analysis of acylcarnitines that became a frontline diagnostic test for defects of fat oxidation and branched-chain amino acid catabolism. Subsequently, the method was modified to include several essential amino acids and applied to dried blood spots, paving the way for the expansion of newborn screening for from a handful to over 30 metabolic conditions. As the expanded newborn screening method has spread, Dr. Millington has developed educational material and taught many laboratorians and follow-up coordinators worldwide how to apply the technology and interpret results. Expanded newborn screening by MS/MS is now applied to tens of millions of neonates annually and has help save thousands of lives. More recently, he has collaborated with a North Carolina biotechnology company to bring digital microfluidics into biochemical diagnostics and newborn screening. He has also pioneered novel biomarker assays for numerous lysosomal storage conditions to facilitate patient diagnosis and monitoring. Dr Millington has published over 200 research articles and book chapters and has served on the North Carolina Newborn Screening Program Advisory Board since 1990. He was honored jointly with Dr Mohamed Rashed by the ISNS with the Robert Guthrie award for outstanding contributions to newborn screening in 1996. He was also honored by the MSACL in 2015 with their first Distinguished Contribution Award in recognition of achievements made in the field of clinical mass spectrometry.

Relevant Financial Disclosures (within past 24 months) Committee/Board/Advisory Board Science Advisory Board, Baebies, Inc. Stock/Bonds Baebies, Inc Discussing Products? YES, presenter will present educational content related to products/services of one or more ineligible company(ies) listed above. Conflict mitigation IN PROCESS.

Inspired by a clinician’s account of a child rescued from near death by a revolutionary therapeutic intervention, the author applied chemistry and mass spectrometry to solve an analytical challenge that led to the first front-line diagnostic test performed by tandem mass spectrometry (MSMS) – the analysis of acylcarnitines to recognize and diagnose inherited disorders of fatty acid and branched-chain amino acid catabolism. By applying this method to dried blood spots and adding an additional analytical component to include several essential amino acids, a novel multiplex assay was developed to screen newborns for over 30 inherited metabolic conditions with a single test. The introduction of this method into public health systems and hospitals across the world during the past 20 years has literally revolutionized neonatal screening; new technology is being introduced to add more value.