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Two Short Talks on Newborn Screening - The Utah Experience
Through a decade-long partnership, ARUP and the University of Utah have worked with the Utah Department of Health to implement continued improvements to the state’s newborn screening program. In 2006, Utah implemented the expansion of diseases screened in newborns by use of tandem mass spectrometry technology, and in 2013, Severe Combined Immunodeficiency (SCID) was added to the list. SCID is the first molecular test used as the primary screen in Utah. On the occasion of the 50th anniversary of newborn screening in the U.S., two laboratory experts discuss the history of their collaboration with the Department of Health, their conclusion from pilot studies, and statistics seen through the newborn screening program in Utah.
Originally presented October 17, 2013 in Salt Lake City, Utah.
Marzia Pasquali, PhD
Medical Director, Biochemical Genetics, ARUP Laboratories
Medical Director, Newborn Screening, ARUP Laboratories
Professor of Pathology, University of Utah School of Medicine
Dr. Marzia Pasquali is the medical director of the Biochemical Genetics and Newborn Screening laboratories at ARUP Laboratories. She is also professor of pathology at the University of Utah School of Medicine. Dr. Pasquali has two doctorate degrees from the University of Parma, Italy, one in pharmaceutical chemistry and technology and the other in pharmacy. Prior to ARUP, Dr Pasquali served as co-director of the Biochemical Genetics Laboratory at Emory University. She is board certified in Clinical Biochemical Genetics.
Patricia R. Slev, PhD
Co-Medical Director, Immunogenetics, ARUP Laboratories
Medical Director, Serological Hepatitis/Retrovirus Laboratory, ARUP Laboratories
Assistant Professor of Pathology, University of Utah School of Medicine
Dr. Patricia Slev is the medical director of the Serological Hepatitis/Retrovirus Laboratory and Co-medical director, Immunogenetics Laboratory at ARUP. She is also an assistant professor of pathology at the University of Utah School of Medicine. Dr. Slev earned her PhD from the University of Florida in immunology and laboratory medicine, completed her fellowship in clinical chemistry at the University of Utah. She is board certified by the American Board of Clinical Chemistry.
After this presentation, participants will be able to:
- Understand the aim of state newborn screening programs.
- Become familiar with recent laboratory technologies used in newborn screening programs.
- Recognize the relationship between screening, follow up, and confirmatory testing from a laboratory perspective.
University of Utah School of Medicine, University of Utah Department of Pathology, and ARUP Laboratories