Newborn Screen Positive Infant ACTion Project Overview

1. Newborn Screen Positive Infant ACTion Project Overview Barry H Thompson, MD, FAAP, FACMG Project Co-Chairperson Newborn Screen Positive Infant ACTion Project Learning SessionMay 21-22, 2010

2. Background • 29 treatable, heritable disorders selected by ACMG (2005) as Newborn Screening (NBS) primary panel and adopted by ACHDNC • Expert opinion was selection basis when rarity precluded use of evidence base • 25 additional disorders were recognized as potential future additions to NBS • AAP and other professional organizations have endorsed the primary panel

3. Systemic Challenges • While NBS is generally performed in the newborn nursery by hospital personnel, state health departments are responsible for screening and reporting. • Early discharges and non-hospital births require special handling. • Variation existed among states regarding disorders screened, follow-up procedures, and retention of dried blood spot cards.

4. Challenges for the Practitioner • Unfamiliar diagnostic entities and terminology FAO, OA, AA, SCAD, MCAD, VLCAD • Many metabolic disorders in NBS are not seen often in an average pediatric practice • Some of the disorders are life-threatening and require urgent and appropriate action. • Consultation with a metabolic specialist, and possible referral, may be indicated. • Lack of standardized NBS care systems in place for all infants at the practice level

5. Support for the Practitioner • Advances in newborn screening technologies and the availability of resources such as ACMG ACTion sheets are aimed at improving health outcomes for affected children. • In order for primary care pediatricians to optimize this potential, they must effectively engage their state newborn screening program. • QuIIN Quality Improvement Project: Newborn Screen Positive Infant ACTion Project will assist pediatricians in doing so.

6. ACTion (ACT) Sheets • Perceived need to assist primary providers with initial management of such patients • ACT Sheets and management algorithms developed by an expert working group • Sheets and algorithms have been posted on ACMG website for several years • Work group recent revisions and updates and additional ACT Sheets posted March 2010

7. NBS Positive Infant ACTion Project Overview • A partnership between ACMG and AAP Quality Improvement Innovation Network (QuIIN) Project • Supported by: • Grant from the Health Research and Services Administration (HRSA), Maternal and Child Health Bureau, Health and Human Services • AAP QuIIN Funding

8. NBS Positive Infant ACTion Project Overview • Mission: To improve appropriate responses in the short-term management of infants affected by congenital conditions, identified through newborn screening • Overall goal: For practicing pediatricians and their staff to use QI science over 6 months to assess the effectiveness of systems of care, including use of the ACT sheets, in assisting the pediatrician to provide appropriate responses in the short-term management of infants

9. NBS Positive Infant ACTion Project Overview • Phase 1 (2009) showed there was significant unawareness about and underutilization of ACT Sheets, although pediatricians saw value in the information contained therein • Phase 2 will address utility of ACTion Sheets as a component of practice-based quality improvement, focusing on immediate and short-term follow up .

10. Expectations • Expectations of Participating Teams • to improve newborn screening processes in pediatric practice for all infants • to improve processes for managing infants identified with an out-of-range newborn screening result • to test the use of the ACT Sheets for improving NBS processes

11. Expectations (con’t.) • to provide useful information for making improvements to the ACT sheets • to demonstrate the ACT sheets ability to guide care processes for conditions identified by NBS • to identify the capacity of the ACT sheets in improving care processes for newborn screen positive infant care