Community role for implementation of expanding recommended uniform newborn screening panel

Background: Based on disorder review and recommendations by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), the Secretary of Health and Human Services recommends new disorders to the Recommended Uniform Screening Panel. Newborn screening (NBS) is state mandated; each state independently determines how to implement and fund new recommendations to its already large list of disorders. This model illustrates one state's community-based decision making process to decide if and how to implement screening and follow-up for new disorders.

Methods: The Hawai‘i Department of Health Genetics and NBS Programs convened a community task force to make recommendations on adding Critical Congenital Heart Defects to the state NBS panel. The task force includes cardiologists, nursery staff, birthing facility administration, public health staff, pediatricians, and family representatives. Neighbor Island stakeholders attend via teleconference. The task force considers SACHDNC recommendations, American Academy of Pediatrics guidelines, plus other relevant information (e.g., cost analysis). It discusses whether a disorder should be added to the state panel and what model will be used for screening and follow-up, if implemented. Task force recommendations are presented to the State NBS Advisory Committee for review, then transmitted to the Hawai‘i Department of Health for final decisions and implementation.

Results and Conclusions: Adding disorders to mandated state NBS panels requires community agreement, additional manpower, and funding. When federal agencies make unfunded recommendations, states must decide if and how to implement them. This decision making model helps Hawai‘i provide the NBS services that the community wants.