Thursday, April 25, 2024
4/25/2024
The Texas Newborn Screening (NBS) Program currently screens every infant born in Texas for 55 disorders. Early detection and management of these disorders helps prevent intellectual disability and other catastrophic health problems in affected babies. The NBS Program performs this testing as mandated by the Texas Legislature which requires the program to screen for all disorders on the Recommended Uniform Screening Panel (RUSP) as funding allows. Of the four recent conditions on the RUSP, the Texas NBS Program successfully implemented X-linked Adrenoleukodystrophy in August 2019 and Spinal Muscular Atrophy in June 2021 and is working towards adding Pompe Disease and Mucopolysaccharidosis Type 1 to the newborn screening panel. Building on the Texas NBS Program’s experience in implementation of new conditions; expertise in using tandem mass spectrometry (MS/MS), liquid chromatography tandem mass-spectrometry (LC-MS/MS), and molecular testing technologies; and following recommendations received from Texas metabolic consultants and the Texas Newborn Screening Advisory Committee; the Texas NBS Program proposes to implement a three-tier statewide screening methodology for Pompe and MPS I by May 2024. The NBS Program proposes a screening methodology including first-tier by MS/MS, second-tier by flow injection-MS/MS and LC-MS/MS, and third-tier by next generation sequencing with bioinformatic data analysis. The Texas NBS Program began preparations for this effort in 2021. Activities completed as of April 2022 include cost estimation, research and compilation of potential screening algorithms and methods, planning on consultation with specialists, estimations on building modifications to support testing activities, acquisition of molecular equipment and reagents, and initiation of Amazon Web Service (AWS) for NBS bioinformatics. To support implementation of full population testing, the Texas NBS Program intends to use grant funds to acquire reagents, supplies, equipment, and instrument maintenance needed to optimize and validate second- and third-tier test methodologies and protocols; train laboratory technologists on the second- and third-tier screening methods and Clinical Care Coordination staff on follow-up protocols; expand AWS capacity to accommodate human genomic data analytics processes; host a stakeholder meeting to develop a referral network; and educate healthcare providers so they are aware of and prepared for the addition of these new conditions to the Texas NBS panel. This project will allow Texas to get a head start on the implementation process of Pompe and MPS I and overcome currently existing hurdles in second- and third-tier method development and validation, follow-up algorithm development, expansion of bioinformatic environment, and provider education efforts, allowing successful and timely population-wide newborn screening for Pompe and MPS I in Texas.
HHS’ Tracking Accountability in Government Grants System (TAGGS) website provides access to detailed descriptions of grants, loans, aggregated direct payments and other types of financial assistance awarded by the HHS Operating Divisions (OPDIVs) and the Office of the Secretary Staff Divisions (STAFFDIVs).
