Conversations Around Tiered Screening Webinar Series Part 3: Biochemical Second-tier testing and Molecular Second- and third-tier testing Options and Considerations

This webinar provided an overview of biochemical second-tier testing and molecular second- and third-tier testing options using CAH, HCY, MPS I, X-ALD, Pompe, VLCAD, and SCID as examples. Speakers discussed the factors to consider when adding biochemical second-tier testing and molecular second- and third-tier testing, and the pros and cons of each testing option.

Speakers:

• Suzanne Cordovado, PhD, Laboratory Chief, Molecular Quality Improvement Program, Newborn Screening, and Molecular Biology Branch, Centers for Disease Control and Prevention
• Dietrich Matern, MD, PhD, Professor of Laboratory Medicine, Medical Genetics and Pediatrics, Co-Director, Mayo Clinic Biochemical Genetics Laboratory
• Richard Olney, MD, MPH, Division Chief, Genetic Disease Screening Program, California Department of Public Health
• Marzia Pasquali, PhD, FACMG, Professor of Pathology, University of Utah School of Medicine, Section Chief & Medical Director, Biochemical Genetics and Supplemental Newborn Screening, ARUP Laboratories

Other links:

• https://www.aphl.org/programs/newborn_screening/Pages/sequencing-Decision-Matrix.aspx

This resource is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under grant # U22MC24078. This information or content and conclusions are those of the authors and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the US Government.