NEWBORN SCREENING & GENETICS

By Erin Darby , senior specialist , NewSTEPs ; Kshea Hale , senior specialist , Newborn Screening and Genetics ; Chenelle Norman , manager , Newborn Screening Quality Improvement ; and Kayana Walters , specialist , Newborn Screening Quality Improvement

Newborn screening ( NBS ) is a system consisting of a diverse group of stakeholders . As one of the most successful public health initiatives in the United States , it is important to ensure that this system continues to operate at a high capacity through workforce and capacity building .

To further build capacity among NBS members , APHL ’ s Newborn Screening Technical assistance and Evaluation Program ( NewSTEPs ) hosted two national meetings in August 2021 , the New Disorders & Short-Term Follow-up Meeting and the Continuous Quality Improvement ( CQI ) National Meeting .

New Disorders & Short-Term Follow-up National Meeting

On August 25-26 , NewSTEPs convened members of the NBS community and other stakeholders to address topics related to NBS implementation for disorders recently added to the Recommended Uniform Screening Panel ( RUSP ), as well as other disorders in review for addition to the RUSP . Some of the conditions that were highlighted included Pompe disease , Mucopolysaccharidosis type I ( MPS I ), X-Linked Adrenoleukodystrophy ( X-ALD ), Krabbe disease , Mucopolysaccharidosis type II ( MPS II ) and Guanidinoacetate methyltransferase deficiency ( GAMT ).

www . NewSTEPs . org .

CQI National Meeting

Adoption of a CQI framework and application of CQI tools has the potential to reduce system errors , create more streamlined integrated workflows and improve overall organizational performance . NewSTEPs , with the support of the Health Resources and Services Administration ( HRSA ), continues to dedicate significant resources to build capacity among NBS programs in implementing CQI to improve and strengthen NBS systems . Most recently , NewSTEPs provided the NBS workforce with an opportunity to build CQI capacity during session two of the CQI National Meeting hosted on August 24 .

The meeting covered several topics in CQI and NBS . One of the most popular topics focused on strategies for translating copious newborn screening and improvement data into meaningful insights and actionable outcomes for external stakeholders . Speakers Dr . John Boulton , director of NHS Quality Improvement and Patient Safety , and Phyllis Virgil , improvement coach and CQI subject matter expert , led the presentation . After the presentation , participants had the opportunity to apply the proposed techniques during a live workshop .

Conclusion

As NBS programs continue to expand , it is critical to continue identifying new and innovative ways to build NBS workforce and knowledge capacity . As a public health initiative that is responsible for screening nearly four million babies annually in the US , this capacity building will be needed to ensure that the NBS system is operating to meet the needs of the communities it serves . n