Video LectureARCHIVED: NOT AVAILABLE FOR CREDIT
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 was 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 the pilot studies, and statistics seen through the newborn screening program in Utah.

Originally presented on October 17, 2013 in Salt Lake City, Utah.



Lecture Presenters

Marzia Pasquali, PhD

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. Pasquali is the medical director of the Biochemical Genetics and Newborn Screening laboratories at ARUP. She is also a professor at the University of Utah School of Medicine and a clinical scientist in the area of newborn screening. Born and educated in Italy, Dr. Pasquali earned her degrees of doctor in pharmaceutical chemistry and technology and pharmacy doctor at the University of Parma School of Pharmacy. Dr. Pasquali trained in biochemical genetics at Emory University and later served as the co-director of the Biochemical Genetics Laboratory. Dr. Pasquali is board certified in Clinical Biochemical Genetics.



Patricia R. Slev, PhD

Patricia R. Slev, PhD

Medical Director, Serological Hepatitis/Retrovirus Laboratory
ARUP Laboratories
Assistant Professor of Pathology
University of Utah School of Medicine

Dr. Slev is the medical director of the Serological Hepatitis/Retrovirus Laboratory at ARUP and an assistant professor of pathology at the University of Utah School of Medicine. Dr. Slev earned her PhD in immunology and laboratory medicine from the University of Florida, Gainesville and completed a fellowship in clinical chemistry at the University of Utah. She is board certified by the American Board of Clinical Chemistry. Dr. Slev’s research interests are in immunogenetics and pathogen interactions, particularly HIV and viral hepatitis.



Objectives

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.

Sponsored by:

University of Utah School of Medicine, and ARUP Laboratories