Improving Newborn Screening Processes: Lessons Learned from the QuIIN Newborn Screen Positive Infant ACTion Project

1. Improving Newborn Screening Processes: Lessons Learned from the QuIIN Newborn Screen Positive Infant ACTion Project Tim Geleske, MD, FAAP Ruth Gubernick, MPH Barry Thompson, MD, FAAP, FACMG

2. I have no relevant financial relationships with the manufacturers of any commercial products and/or provider of commercial services discussed in this CME activity. I do not intend to discuss an unapproved/investigative use of a commercial product/device in their presentation.

3. Background • State based Public Health Program with significant disparities in disorders screened and services. • 2005 HRSA/MCHB commissioned ACMG to develop a Recommended Uniform Newborn Screening Panel • 29 heritable disorders selected as Newborn Screening (NBS) primary panel core conditions for which screening should be mandated. • Identified early (24 to 48 hours after birth) before clinical detection • Available test with appropriate sensitivity and specificity • Benefits of early detection, intervention and efficacious treatment • 25 additional disorders recognized as secondary targets • Part of DDx for condition on core panel • Clinically significant but lack efficacious treatment • Incidental findings for which there is potential clinical significance

4. Background • Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) • Guides policies to reduce morbidity and mortality in newborns and children having, or at risk for, heritable disorders • Advises the Secretary of HHS on NBS • Recommendations on expansion or improvementRUSP • Appropriate application of universal newborn screening tests and technologies • Policies, guidelines and standards • Endorsed and adopted the Recommended Uniform NBS Panel • AAP and other professional organizations have endorsed the primary panel

5. Average Number of Conditions Year Average Number of Newborn Screening Conditions Required in US Programs 1990-2010

6. 36 30 45 46 35 45 46 49 47 48 54 54 50 52 52 51 53 51 30 31 33 36 30 33 30 31 33 31 31 30 53 53 54 ‘Core 29’ (31) 50+ Disorders (16) 30-39 Disorders (20) 40-49 Disorders (12) 20-29 Disorders (3) U.S. Newborn Screening Conditions Required – Feb 1, 2011 (Conditions available as an option to a selected population are not counted – Must be universally required) 29 39 52 39 50 45 54 32 41 51 44 51 31 42 DC 53 28 29 43 37

7. 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.

8. 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 specialist, and possible referral, may be indicated. • Lack of standardized NBS care systems in place for all infants at the practice level

9. 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 assisted pediatricians in doing so.

10. 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 (SCID and LSDs, Ashkenazi Jewish Disorders and Spinal Muscular Atrophy, Sickle Cell Disease [transition]) posted March 2011

11. NBS Positive Infant ACTion Project Overview • ACMG contract with AAP by means of a grant formed the partnership for this project • Supported by: • Grant from the Health Research and Services Administration (HRSA), Maternal and Child Health Bureau, Health and Human Services • AAP QuIIN Funding

12. 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 addressed utility of ACTion Sheets as a component of practice-based quality improvement, focusing on immediate and short-term follow up.

13. 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 decision support tools including ACT sheets, in assisting the pediatrician to provide appropriate responses in the short-term management of infants

14. Project Aims Between June 1, 2010 and November 30, 2010, the Newborn Screen Positive Infant ACTion Project practice teams will aim to improve newborn screening processes in pediatric practices for all children so that: • 100% of infants receive assessment at first visit for completion of newborn screening. • 100% of charts are flagged for patients who are not screened. • 100% of newborn screening results are received before the 2- to 4-week visit. • 100% of in-range newborn screening results are documented in the infant’s chart and shared with parents **Project Aims based on AAP NBS Clinical Report, Newborn Screening Expands: Recommendations for Pediatricians and Medical Homes—Implications for the System

15. Project Aims Between June 1, 2010 and November 30, 2010, the Newborn Screen Positive Infant ACTion Project practice teams will aim to improve the processes for managing those children identified with an out-of-range newborn screening result using the ACTion sheets so that: • 100% of parents of infants with an out-of-range newborn screening result receive condition-specific information and support. • 100% of infants with an out-of-range screening result receive confirmatory testing and/or definitive consultation with subspecialists. • 100% of false out-of-range newborn screening results are documented in the infant’s chart and discussed with parents. • 100% of infants given a diagnosis of a significant medical condition detected by newborn screening are identified as a child with special health care needs and are provided a medical home (i.e. entered into the practice’s children with special health care needs registry and chronic condition management initiated).

16. Project Aims Between June 1, 2010 and November 30, 2010, the Newborn Screen Positive Infant ACTion Project practice teams will aim to test the ACT Sheets for improving newborn screening processes so that: • 100% of participating providers in the practice reviewed the ACT sheets for infants with an out-of-range newborn screening result • 100% of participating providers in the practice followed the recommendations in the ACT sheets.

17. Project Methods • Modified Learning Collaborative with 15 teams (lead physician plus 2 others from practice) • Model for Improvement; Plan, Do, Study, Act; small tests of change • Prework period (April 2010) • Baseline chart review • Pre-Inventory Survey • Learning Session 1 (May 2010) • Action Period (June-November 2010) • Monthly Chart Review • 10 charts of all newborns • Charts of ALL infants with out-of-range newborn screening results • Charts of ALL infants given a diagnosis of a significant medical condition detected by newborn screening • Monthly Progress Reports • Monthly Team Calls • Review of Run Charts to guide improvements • Post-Inventory Survey (November only) • Post Toolkit Evaluation Survey (November only) • Learning Session 2 (February 2011)

18. 15 Teams In 11 States Cleveland, OH Cleveland Clinic Children’s Hospital West Reading, PA All About Children Pediatric Partners PC Trexlertown, PA ABC Family Pediatricians Upland, PA Crozer Pediatrics Flushing, NY Flushing Hospital Medical Center Crestview Hills, KY Pediatric Associates, PSC 1 1 1 3 Salt Lake City, UT Pediatric Clinic, University Health Care 1 1 1 1 1 2 2 Lorton, VA All Pediatrics 2 1 1 Greeley, CO Greeley Medical Clinic Southern Pines, NC Sandhills Pediatrics Kansas City, MO Priority Care Pediatrics San Antonio, TX Community Medicine Associates Charlotte, NC CMC Myers Park Pediatrics Midlothian, VA Pediatric & Adolescent Health Associates Bentonville, AR Mercy Pediatric Clinic

19. Charts Reviewed Aggregate DataApril (Pre-work) and November 2010

20. Newborns seen for the first time

21. Newborns seen for the first time

22. Newborns with an Out-of-Range NBS Result

23. Infants given a diagnosis of a significant medical condition detected by NBS *October data used because in November, n=0

24. Pre-Inventory Aggregate DataApril 2010 andPost-Inventory Aggregate DataNovember 2010

25. PRACTICE GUIDELINES The clinicians have agreed as a group on the following guidelines:

26. POLICIES Our practice has written policy/policies in place to support the following:

27. POLICIES Our practice has written policy/policies in place to support the following:

28. DOCUMENTATION SYSTEMS Our practice has a system in place to:

29. DOCUMENTATION SYSTEMS Our practice has a system in place to:

30. DOCUMENTATION SYSTEMS Our practice has a system in place to:

31. Time Spent (self reported)(Average, in Minutes)

32. ACT Sheet (Aggregate) Data

33. ACT Sheet Data from Monthly Progress Reports (N = 85, for 20 specific ACT sheets utilized)

34. ACT Sheet Data from Post ACT Sheet Evaluation Survey (N=15 practices)

35. ACT Sheet Data from Post ACT Sheet Evaluation Survey (N=15 practices)

36. Conclusions 15 diverse practices were able to utilize quality improvement science to: • Increase documentation of NBS results • Increase documentation of the communication of results to parents • Increase identification of children with special needs and enter into practice registry • Establish practice policies regarding newborn screening process to clearly define roles, responsibilities, and expectations • Increase utilization of the ACTion sheets • Show that adequate documentation and communication of results did not increase total patient visit time

37. What’s Next • EQIPP Course being developed using lessons learned from this project • Article submitted for publication in Pediatrics Quality Reports • SACHDNC recommendations to the RUSP adopted by the Secretary of HHS • SCID (5/21/10) – Traditional Dried Blood Spot Screening • CCHD (9/21/11) – Pulse Ox screening • Point of care testing • New paradigm in NBS

38. Additional Resources • QuIIN NBS Project Web Page: http://www.aap.org/qualityimprovement/quiin/NBS.html • Includes links to project’s change package, ACT sheets, and additional tools • Project Staff • Jill Healy, QuIIN Project Manager jhealy@aap.org • Holly Griffin, Manager, Screening and Public Health Prevention Programs hgriffin@aap.org

39. Any NBS Teams on the Call? Share your experiences and lessons learned! • What is your proudest accomplishment? • What lesson do you find important for others interested in making change?

40. Questions?