Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation

Kshea Hale; Yvonne Kellar-Guenther; Sarah McKasson; Sikha Singh; Jelili Ojodu

doi:10.3390/ijns6020048

Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation

Int J Neonatal Screen. 2020 Jun 11;6(2):48. doi: 10.3390/ijns6020048. eCollection 2020 Jun.

Authors

Kshea Hale¹, Yvonne Kellar-Guenther², Sarah McKasson³, Sikha Singh¹, Jelili Ojodu¹

Affiliations

¹ Association of Public Health Laboratories, Silver Spring, MD 20910, USA; sikha.singh@aphl.org (S.S.); jelili.ojodu@aphl.org (J.O.).
² Center for Public Health Innovation, Littleton, CO 80120, USA; ykellar-guenther@ciinternational.com.
³ Colorado School of Public Health, Department of Epidemiology, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA; sarah.mckasson@cuanschutz.edu.

Abstract

Public health programs in the United States screen more than four million babies each year for at least 30 genetic disorders. The Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state newborn screening (NBS) programs to screen. ACHDNC updated the Recommended Uniform Screening Panel (RUSP) to include Pompe disease in March 2015. To support the expansion of screening for Pompe disease, the Association of Public Health Laboratories (APHL) proposed the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) New Disorders Implementation Project, funded by the HHS' Health Resources and Services Administration (HRSA) Maternal and Child Health Bureau (MCHB). Through this project, APHL provided financial support to 15 state NBS programs to enable full implementation of screening for Pompe disease. As of April 27, 2020, nine of the 15 programs had fully implemented Pompe disease newborn screening and six programs are currently pursuing implementation. This article will discuss how states advanced to statewide implementation of screening for Pompe disease, the challenges associated with implementing screening for this condition, the lessons learned during the project, and recommendations for implementing screening for Pompe disease.

Keywords: Pompe disease; new disorders implementation; newborn screening.