Considerations for Public Health Newborn Screening Follow-up Protocols for X-ALD, MPS I, and Pompe Disease:

OUR PROJECT:

In 2017, the Minnesota Department of Health (MDH) began newborn screening (NBS) for X-linked adrenoleukodystrophy (X-ALD), Mucopolysaccharidosis type I (MPS I), and Pompe disease. Also in 2017, we received funding from the Association of Public Health Laboratories NewSTEPs program. With this grant project, we wanted to know, "What can MDH do to improve the health and well-being of newborns that screen positive for X-ALD, MPS I, or Pompe disease and their families?" Project activities focused on listening to people directly and indirectly impacted by newborn screening for X-ALD, MPS I, and Pompe disease: parents, medical professionals, public health, and more. After hearing about their experiences, we assembled a group to create a plan on how public health can best support newborns identified with these conditions and their families. The project had four main parts:

1. Key informant interviews: We began by interviewing experts on X-ALD, MPS I, and Pompe disease. These experts included pediatric subspecialists, genetic counselors, and other health and community professionals. The interviews helped us better understand the conditions, existing resources, and who else could help inform our project.
2. Primary care provider survey: Next, we created an online survey for primary care providers to learn about their experiences and needs working with children who have similar conditions. These physicians, physician assistants, and advanced practice registered nurses are very important in managing the everyday health needs of children and families.
3. Family phone interviews: We also included the valued voices of parents/guardians of children and youth across the United States with these conditions through telephone interviews. Our goal was to better understand the types and timing of resources families need, how and with whom they would like to communicate, and what lessons learned could be incorporated into public health follow-up.
4. Protocol evaluation workgroup: After all this information was collected, we brought together a group of parents, medical, community and public health professionals. The group made recommendations based on their expertise, and then evaluated a proposed set of considerations for public health follow-up of children and youth with X-ALD, MPS I, and Pompe disease identified by newborn screening.

MDH is grateful for all the collaboration on this project. If you have specific questions about the project, or wish to provide comments, contact health.cyshn@state.mn.us.

• Public Health Newborn Screening Follow-up for X-ALD, MPS I, and Pompe Disease: Final Report (PDF)
• Management, Analysis, and Development Family Interview Report (PDF)

This work was supported by the Association of Public Health Laboratories through the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under grant number #UG9MC30369 New Disorders Implementation Project for $4,000,000. This information or content and conclusions are those of the author and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the U.S. Government.