Use of Genomics in Newborn Screening Programs: The Promise and Challenges
September 21, 2021, 1:00 pm -2:00 pm EDT
Join us for a free webinar via Zoomexternal icon
All infants born in the United States are screened for certain disorders soon after birth through state-based newborn screening programs. While most screening is done using tandem mass spectrometry, many newborn screening programs use DNA sequencing of individual genes for follow-up testing of infants with positive initial screens. This requires a tiered approach, in which results from each step inform what is done next. While this can add complexity to screening protocols, single-gene sequencing can decrease the need for diagnostic testing in some infants, which represents a substantial burden for newborn screening programs.
While some have called for newborn screening using whole exome or whole genome sequencing, substantial barriers exist, including cost, privacy, equity in access, and the need for informed consent for sequencing of identifiable individuals. However, these technologies could play a role in testing those who screen positive using initial biochemical screens.
Join us as we discuss both current and potential future use of genomics in newborn screening.
Richard S. Olney, MD, MPH
Division Chief, Genetic Disease Screening Program,
Director, Genetic Disease Laboratory,
California Department of
Robert Currier, PhD
Department of Pediatrics,
University of California,
Suzanne Cordovado, PhD
Division of Laboratory Sciences,
National Center for
Centers for Disease Control
- The role of exome sequencing in newborn screening for inborn errors of metabolism.external iconAdhikari AN, Gallagher RC, Wang Y, Currier RJ et al., Nat Med. 2020 Sep;26(9):1392-1397.
- Single-Gene Sequencing in Newborn Screening: Success, Challenge, Hopeexternal iconCurrier RJ. Special report, Hastings Center Report 48, no. 4 (2018): S37-S38.
- Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosisexternal iconHendrix MM, Foster SL, Cordovado SK. J Inborn Errors Metab Screen. 2016; 4:10.
- Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Upexternal iconMatteson J, Sciortino S, Feuchtbaum L, Bishop T, Olney RS, Tang H. Int J Neonatal Screen. 2021;7(2):22.
- Office of Genomics and Precision Public Health, Office of Science