1. In Collaboration with NewSTEPs: Data collection efforts at the national level for newborn screening quality improvement Marci K Sontag, PhD NewSTEPs (Newborn Screening Technical assistance and Evaluation Program

2. In Collaboration with Vision Dynamic newborn screening systems have access to and utilize accurate, relevant information to achieve and maintain excellence through continuous quality improvement. Mission To achieve the highest quality for newborn screening systems by providing relevant, accurate tools and resources and to facilitate collaboration between state programs and other newborn screening partners. NewSTEPs is funded through a five-year cooperative agreement to APHL by the Genetic Services Branch of the Health Resources and Services Administration (HRSA). APHL is collaborating with the Colorado School of Public Health to implement NewSTEPs

3. In Collaboration with Overview of NewSTEPs

4. In Collaboration with NewSTEPs Comprehensive Newborn Screening Resource and Technical Assistance Resource for the U.S. Publically available website: www.NewSTEPs.org www.NewSTEPs.org Data repository with varying levels of access for the public, state newborn screening programs, and public health decision makers

5. In Collaboration with Partnerships and Collaboration NewSTEPs Steering Committee Routine interaction with Regional Collaboratives Continual outreach to NBS programs All work groups comprise individuals from the NBS Community

6. In Collaboration with NewSTEPs Partnerships & Outreach Site Visits Quality Indicators Case Definitions Website & Data Repository Disease Specific Activities Continuous Quality Improvement

7. In Collaboration with Development of Voluntary Data Repository Vendor chosen: 5AM Solutions, Inc. Purpose: Provide tools to state newborn screening systems to adequately evaluate, analyze, and benchmark the performance of their tests and the quality of their newborn screening programs

8. In Collaboration with Components of the Data Repository State Newborn Screening Program Profiles Baby level data on infants diagnosed with a disorder through newborn screening – Case Definitions Project with HRSA Quality Indicators of Newborn Screening Programs – laboratory and follow-up

9. In Collaboration with State Newborn Screening Profiles Program structure Disorders screened, with dates of initiation Steps to add new conditions Fees Personnel structure, contact information Hours, emergency procedures Partnerships with birth defects, other partners

10. In Collaboration with Baby Level Data Disorder specific newborn screening data – Timing of diagnosis, follow-up – Diagnostic factors on key follow-up elements Case Definitions – 29 case dried blood spot NBS conditions being finalized and undergoing pilot testing – CCHD case definitions will be incorporated

11. In Collaboration with Quality Indicators A set of 8 quality indicators have been developed in cooperation with newborn screening program experts The intent of these indicators is to provide tools to states to identify areas of strength or improvement while providing a snapshot of national trends QIs 1 and 2 focus on collection and information gathering for dried blood spots QIs 3 – 8 are intended for all NBS conditions

12. In Collaboration with Quality Indicators QI 1. Percent of invalid dried blood spot specimens due to improper collection and/or transport QI 2. Percent of dried blood spot specimens missing essential information QI 3. Percent of eligible infants not receiving valid newborn screening test, stratified by dried blood spot or point of care test(s). QI 4. Percent of loss to follow-up QI 5. Time elapsed from birth to screening, follow-up testing, confirmed diagnosis QI6. Percent of out of range results QI7. Frequency of condition detected by newborn screening for each disorder QI8. Percent of missed cases (false negatives), stratified by disorder

13. In Collaboration with Continuous Quality Improvement (CQI) Program Components of national and state CQI programs: – Quality Indicators – Annual Mini Reviews – Full Site Visits – Continuing Education – Development of Quality Improvement Program

14. In Collaboration with Disease Specific Outreach Critical Congenital Heart Disease (CCHD) – Monthly Technical Assistance (TA) calls – Working with other groups to develop resources Cystic Fibrosis Foundation – Discussions about connecting NewSTEPs repository with CFF long term registry

15. In Collaboration with Evaluation Site Visits Pre-Evaluation Tool followed by Evaluation Site Visit (subject matter experts comprise 5-6 person Site Visit Team) Follow-Up with a comprehensive report and recommendations Work closely with all components of newborn screening program to perform evaluation.

16. In Collaboration with Evaluation Site Visits Comprehensive visit with a team of experts that evaluates an entire newborn screening program including laboratory system, birthing facilities, and follow-up system Customizable for programs Non-regulatory Technical assistance continues following the visit.

17. In Collaboration with Summary - NewSTEPs NewSTEPs is partnering with newborn screening programs to: – Provide technical assistance and resources – Collate and summarize data in aggregate form – Develop opportunities for quality improvement, locally, regionally, and nationally

18. In Collaboration with Contact us Marci Sontag, PhD – marci.sontag@ucdenver.edu marci.sontag@ucdenver.edu – (303) 724-4430 Sikha Singh, MHS, PMP – sikha.singh@aphl.org sikha.singh@aphl.org – (240) 485-2726

19. In Collaboration with Partners in Newborn Screening Birth Newborn Screening Diagnosis Long Term Follow-up Specialists NBS Programs Families and Health Care Providers Public Health Decision Makers/Legislators Research and Development in Newborn Screening