When the HHS Secretary's Advisory Committee on Screening of Newborns and Children recommends a disorder for addition to state newborn screening panels, implementation is not automatic. States must obtain legislative approval to screen for the disorder, acquire funding for personnel and equipment, and find room for additional instrumentation within current laboratory space.
Under a HRSA-funded project managed through APHL's Newborn Screening Technical assistance and Evaluation Program (NewSTEPs), APHL is helping 16 states to take Advisory Committee recommendations for three disorders recently added to the federal government's Recommended Uniform Screening Panel (RUSP) to reality at the state level. The three disorders – Pompe disease, Mucopolysaccharidosis type I (MPS I) and X-Linked Adrenoleukodystrophy (X-ALD) – are unique in that they vary significantly in severity and age of onset. Newborns with the most serious forms of the disorders usually die within the first year of life or in early childhood. Given the potential consequences, it is critical that more states implement screening for the three disorders to link children to care before symptoms arise.
APHL supports the 16 competitively selected state newborn screening programs to implement or advance toward implementation of one or more of the three disorders. Project funding enables states to purchase equipment and supplies, hire personnel, validate instruments and reagents, develop educational materials, create follow up systems to address positive or abnormal screens, and develop reporting algorithms, procedures and protocols.
Eleven of the 16 state programs expect to reach full implementation for at least one of the three disorders by the end of the funding period in September 2018. In the first year alone, four states initiated screening for Pompe, three for MPS I and one for X-ALD. As of December 2017, nine states were screening for Pompe, eight for MPS I and five for X-ALD.
To further support newborn screening programs, APHL funds three states to provide expert consultation on laboratory techniques, follow-up procedures and other implementation-related activities for the new disorders. These Peer Network Resource Centers offer first- and/or second-tier testing to facilitate screening in other states. Services are available to all states and territories.
In addition, APHL, working with the Colorado School of Public Health under NewSTEPs, provides technical assistance, information sharing and data tracking for the three new disorders. Among other activities, it has convened clinical providers to establish case definitions to standardize disease reporting criteria, hosted a national meeting to allow state programs to share their experiences implementing screening for new disorders, hosted disease-specific webinars and convened a NewSTEPs New Conditions Workgroup to provide expert consultation to states. The association also has established partnerships with Baby's First Test and the Newborn Screening Translational Research Network to provide educational resources and training materials to newborn screening programs.
Taken together, these initiatives offer a model for state implementation of newborn screening disorders. With rapid advances in molecular detection enhancing capability to detect new disorders, the model is well timed.