1. Pulse-ox to Policy: The Story Behind Screening Newborns for Heart Defects Natasha Bonhomme Babys First Test, Genetic Alliance

2. Disclosure I have no financial or intellectual conflicts of interest

3. Agenda SACHDNC Nomination Process Rationale for CCHD Screening Implementation Efforts Resources

4. Secretarys Advisory Committee on Heritable Disorders in Newborns and Children

5. Established in 2003 Responsible for advising the Secretary of HHS on matters relating to newborn screening including technology, tests, policies and guidelines 10 voting members 16 liaisons/agency representatives Recommended Uniform Screening Panel

6. Recommended Uniform Screening Panel (RUSP) Federally recommended panel of conditions Based on ACMG/HRSA report 2006 Federal gov. cannot mandate what is on the state screening panels Currently 31 conditions including CCHD

7. ACMG Recommended Panel

8. SACHDNC: Condition Nomination Nomination form – Nominator – Condition Information (disorder type, screening method, treatment) – Evidence-Based Information (validity, sensitivity, pilot study) Administrative Review Evidence Working Group Review Presentation to Committee Vote

9. 1.Does screening improve outcomes? 2.Is there a case definition and what is known about the disorder? – Prevalence, spectrum of disease, natural history? 3.Is there a test for the disorder? 4.Has the test been validated? 5.What is the clinical utility of the test? 6.How cost effective is the screening, diagnosis, and treatment for this disorder compared with usual clinical case detection and treatment? Condition Review – Current Process

11. Proposed Revision Workgroup meets prior to presentation – including 2 AC members Evidence is discussed SAC members frame their perspective recommendations for the SAC ERG presents data SAC member presents their recommendations SAC discusses and votes

12. Rationale for changes AC renewal in 2013 – NBS Saves Lives Act – Must meet legislative requirements Stature and visibility of SAC is growing – Assure processes are well planned out – Time to review current legislation and ensure requirements are met

13. Other Nominated Conditions Conditions that have been nominated, received an evidence report, and are on the RUSP · Severe Combined Immunodeficiency (SCID) · Critical Congenital Cyanotic Heart Disease (CCCHD) Conditions that have been nominated, received an evidence report, and the committee decided not to put them on the RUSP · Krabbe Disease · Hemoglobin H · Neonatal Hyperbilirubinemia

14. Other Nominated Conditions Conditions that have been nominated, received an evidence report, and the committee decided not to put them on the RUSP, and the nominators reapplied · Pompe Disease (In Review) Conditions that have been nominated, and the committee decided to put them to an evidence review (but the review is not finished) · MPS I (alpha-L-iduronidase deficiency) Conditions that have been nominated, but the committee decided not to put them to the evidence review · 22q11.2 Deletion Syndrome · Adrenoleukodystrophy · Fabry Disease · Niemann-Pick Disease · Spinal Muscle Atrophy

15. Public Health and NBS Based on Wilson and Jungers 1968 WHO paper Screening Valuable If: – Incidence is sufficient in the population – Therapy provided before onset of clinical manifestations results in an improved outcome – Screening identifies disease before symptoms – Test has acceptable sensitivity and false positive rates – Cost effective

16. Public Health and NBS Revision to matrix to include public health impact – Feasibility of state programs – Readiness of state programs – Cost

17. Congenital Heart Disease

18. Background Congenital Heart Disease (CHD) – 7 to 9 out of every 1,000 live births (US) – Estimated 25% have CCHD Critical Congenital Heart Disease (CCHD) – CHDs with life-threatening symptoms needing intervention before 1 y.o. Critical Congenital Cyanotic Heart Disease (CCCHD) – CCHDs with hypoxemia in most if not all cases

19. Timeline for Addition Oct. 15, 2010 – SACHDNC recommends CCHD to be added to RUSP Sept. 21, 2011 – Secretary Sebelius adopts the recommendation to add CCHD to the RUSP Nov. 2011 – Strategies for Implementing Screening for Critical Congenital Heart Disease is published in Pediatrics

20. Why CCHD? Missed Diagnosis of Critical Congenital Heart Disease Chang, et alt. 2008 Research implied that: – Nearly 40,000 infants/year with CHD – 4,000 infants/year with CCHD – Approximately 2,000 infants/year died or missed According to March of Dimes, CHD most common birth defect

21. Why CCHD? According to the American Heart Association and American Academy of Pediatrics Pulse oximetry may detect CCHD CCHD may not be detected in some infants Failure to detect is associated with significant morbidity and occasional mortality

22. NBS Procedures: Pulse Oximetry Method which was reviewed by committee Simple, non-invasive point of care test Estimates percentage of hemoglobin in the blood that is saturated with oxygen Right hand and Right foot Pulse ox tests should be done after a baby is 24 hours old and before he or she leaves the hospital.

23. Rationale for screening CHD 7-9 out of 1,000 live births I US and Europe Most common cause of death during the first year of life Large scale study found 78% of cases with hypoplastic left heart syndrome (HLHS) were discharged before diagnosis -Universally fatal -Prenatal diagnosis alone detects less than half of cases

24. Point-of-Care newborn screening Outside of the public health laboratory Hearing screening Raising issues of tracking and monitoring of data collected

25. CCHD: Implementation

26. Responsibilities of Federal Agencies Screening Standards and Infrastructure: -HRSA to guide development of screening standards/infrastructure Education and Training: -HRSA to fund development of education/training materials -FDA to provide guidance to industry, staff on pulse oximeters Research: -NIH to focus on screening technology, diagnostic processes, care provided and health outcomes Surveillance: -CDC to monitor infant mortality and health outcomes (utility and evaluation)

27. Role of Public Health Agencies Public awareness Facilitate standardization of implementation Develop process for diagnostic confirmation, follow-up, and data collection Quality Assurance Overall evaluation

28. CCHD: State level

29. CCDH Screening Today

30. Survey by NBDPN, 2010, 2011 Slide from J. Glidewell

32. CCHD Demonstration Projects HRSA Funded 3 year projects Six States/ regions – Wisconsin – Michigan – New Jersey – New England Genetics Consortium 5 New England States: ME, NH, RI, CT, VT – Utah – Virginia

33. Requirements Network with state DPH, hospitals/birthing centers Reporting and education at the Provider and state level Guidelines for collection and reporting Educational programs State Level electronic system for information collection form hospital to state Demonstration Projects

34. Demonstration Projects: What is required of the hospitals involved 1) Number of infants born per year 2) Number of infants screened per year 3) Number of infants with abnormal screens and referred for additional cardiac evaluations 4) Number of infants diagnosed with CCHD before discharge 5) Number of infants diagnosed with CCHD within one year of age (not detected via screening) and the comparison of outcomes regarding NBS detection and clinical detection at each participating hospital and/or birth facility 6) Cost data – cost for screening per infant; costs associated with a positive screen, including follow-up 7) Number of health providers trained on CCHD and screening protocols 8) Number parents/families educated and counseled

35. Other Activities Research on feasibility in community hospitals 2 Stakeholder meetings Engaging payers MD first state to pass legislation NJ first state to mandate screening Aug 2012

36. Lessons learned Education is Key – Provider – Parent – Public Each state will do things a bit differently from state level down to hospital Poster/ materials needed to remind people of protocols Champion is important

37. www.BabysFirstTest.org Because every baby deserves to be healthy, and each parent should know about newborn screening

38. Unique Feature: Clickable map takes users to state-approved profile

39. Unique Feature: Condition specific information

40. Condition specific information

41. Advocacy: Driving Force Parent Advocacy Groups 1in100.org www.tchin.org www.mendedlittlehearts.org www.CorasStory.com

42. Resource list BabysFirstTest.org Pulse Ox Video Babys First Test and Childrens National Medical Center 2012 Challenge Award project – Parent centered resource on pulse-ox Parent centered resource on pulse-ox – Provider centered pulse-ox video Provider centered pulse-ox video CDC: http://www.cdc.gov/ncbddd/pediatricgenetics /cchdscreening.Html http://www.cdc.gov/ncbddd/pediatricgenetics /cchdscreening.Html

43. References AMCHP and CDC Webinar: March 22, 2012 SACHDNC site http://www.hrsa.gov/advisorycommittees/mch badvisory/heritabledisorders/recommendedpan el/index.html http://www.hrsa.gov/advisorycommittees/mch badvisory/heritabledisorders/recommendedpan el/index.html Babys First Test: www.BabysFirstTest.orgwww.BabysFirstTest.org Gerard R. Martin, MD, Elizabeth A. Bradshaw, MSN, RN, CP Childrens National Medical Center http://www.childrensnational.org/PulseOx/ http://www.childrensnational.org/PulseOx/

44. Questions? Thank you. Natasha Bonhomme Project Director, Babys First Test Natasha@babysfirsttest.org Vice President of Strategic Development, Genetic Alliance, Inc