1. Draft Detailed Newborn Screening Use Case and Resource Guide Advisory Committee on Heritable Disorders in Newborns and Children Stephen M Downs MD Indiana University School of Medicine AHIC Personalized Healthcare Workgroup Alan E Zuckerman MD Georgetown University School of Medicine, consultant ONC Oct 2, 2008

2. Overview Dr Downs –New roles for Health Information Technology in Newborn Screening Dr Zuckerman –Newborn Screening Draft Detailed Use Case –Next Steps for Completing the NBS Use Case –Supporting Implementation of the Use Case and deployment of standards in state newborn screening programs Dr Downs –Resource Guide for Newborn Screening Draft Detailed Use Case –Maintaining the Resource Guide for the NBS Use Case –Web application for viewing the NBS Resource Database

3. New Roles for HIT in Newborn Screening

4. Advisory Committee on Heritable Disorders in Newborns and Children 29 disorders Increase children identified 32% (4,370 to 6,439) Improve quality by improving the efficiency of identifying cases Rare disorders –May require regional expertise –Screening, diagnosis, and management –HRSA regional network of technical centers –Need for coordination Long term roles of NBS programs –Surveillance and tracking –Ensuring screening and follow-up for many rare disorders –Ensuring clinical care and management of complex disorders Rare & more common (e.g., cystic fibrosis) Require different types of specialists Life-long clinical management.

5. Quality Control and Research Extremely rare conditions Natural history poorly understood Therapeutic trials require multiple centers Case definitions very state to state Optimal screening cut-offs unknown Uniform, consistent coding and electronic exchange of data is critical –Lab with health department –Health department (or lab) with clinician –Health department with health department –Health department with investigators –Health department with government agencies

6. Consolidating the Silos Immunization Registry Electronic Medical Record System Patient ID: 123LMNOP Name: Jane Doe DOB: 01/01/04 SSN: N/A Address: 555 Johnson Road City: Indianapolis State: Indiana ZIP: 46202 Patient ID: 6789XYZ Name: Jane Ellen Doe DOB: 01/01/04 SSN:123-45-6789 Address: 555 Johnson Road City: Indianapolis State: Indiana ZIP: 46202 Global Patient Index Concept Dictionary Global ID:45678 Name: Jane Ellen Doe Lots of Demographics.. MRF1 ID: OU81247 MRF2 ID: 4564356 PH MRF ID: 123LMNOP MRF3 ID:6789XYZ DTaP Dose Count:30936-9 HIB Dose Count:30938-5 IPV Dose Count:33555-4 VZV Dose Count:30943-5 MMR Dose Count:30940-1 HepB Dose Count:30937-7 Jane Doe’s Immunizations: 3/1/04DipTetaPur 3/1/04HemInfB 3/1/04PolioVir 3/1/04HepaB Jane Ellen Doe’s Shots: 5/1/04DTaP Imm 5/1/04HIB Imm 5/1/04IPV Imm 7/9/04DTaP Imm 7/9/04IPV Imm 30936-9 30938-5 33555-4 30937-7 30936-9 30938-5 33555-4 30936-9 33555-4

7. Consolidating the Silos Immunization Registry Electronic Medical Record System Global Patient Index Concept Dictionary St. Vincent MRF Clarian MRF Wishard MRF Community MRF Public Health MRF Global Patient Index IUMG MRF Concept Dictionary

8. HL7 and Coding Standards OBX|15|CWE|2^Endocrine Disorders^L||107^Borderline >48Hrs <1500^L^OH-C-03-002^THE SCREEN FOR CONGENITAL ADRENAL HYPERPLASIA IS ABNORMAL. FURTHER FOLLOW-UP IS NECESSARY TO EVALUATE THIS INFANT.^L||< 50 ng/ml|A||||||20070727040000 This is an observation The observation name is “Endocrine Disorders” with a local code The observation value is “Borderline >48Hrs <1500” Local code OH-C-03-002

9. LOINC: Logical Observation Identifiers Names and Codes Most clinical labs use HL7, but idiosyncratic codes for tests LOINC codes are universal identifiers for laboratory and other clinical observations Facilitate the exchange and pooling of results Definition of a LOINC Codes includes: –Component (or analyte name) — e.g. potassium, hemoglobin –Property— e.g. mass concentration, enzyme activity (catalytic rate) –Timing - i.e. an observation at a moment of time, or integrated over an extended duration of time — e.g. 24-hour urine –Sample — e.g. urine; blood; blood spot –Scale — e.g. quantitative (a true measurement) ordinal (a ranked set of options), nominal (e.g. E. coli; Staphylococcus aureus), or narrative (e.g. dictation results from xrays) –Method used to produce the result or other observation

10. Newborn Screening Draft Detailed Use Case

11. 11 AHIC Priorities and Use Case Roadmap

12. 12 Purpose of AHIC Use Cases Use Cases Used to describe the high-level needs of many –systems –stakeholder organizations –and individuals. Based on the priorities expressed by AHIC work groups; they describe –scenarios –perspectives –information flows –events –actions –needs –barriers –and sample datasets that may apply to the multiple organizations participating in these areas.

13. 13 Integrate the results from screening in all six clinical domains – metabolic, hearing, endocrine, hemoglobin, pulmonary/genetic, congenital infections, and other into a single comprehensive report. Complete a newborn screening consultation and referral document that includes all of the initial screening results, adds and tracks confirmatory testing and referrals, and identifies all providers and all relevant encounters. Report to public health includes the sharing of de- identified data in the initial screening and the consultation and referral reports with the public health and clinical research community as well as individual case reporting to registries and local service providers Address consumer need to receive educational material regarding the screening and/or a suspected or confirmed condition, and provide additional information and/or specimens NBS Use Case Scope –The AHIC Request

14. 14 The Perspectives define the parties who exchange information Consumer Ordering Clinician Pediatric Clinician Testing Facility Testing Laboratory Audiology services Public Health Information Exchange Other Data Users Newborn Screening - Perspectives

15. 15 This scenario covers initial screening testing, both for Newborn Dried Blood Spot (NDBS) and Early Hearing Detection and Intervention (EHDI) and ends with the reporting of results, either within normal limits, or notification of the need for confirmatory testing if results are outside of normal limits. Includes pre-screening education and consent process Includes data collection as part of the ordering process Includes decisions for the need for second or repeat screening tests Includes routing results to the appropriate clinician caring for the child Includes closing the orders loop to acknowledge review of the results Scenario 1 – Ordering and Resulting

16. 16 Newborn Screening – Scenario 1

17. 17 This scenario covers the diagnostic work up for an out of range (or abnormal) screening test either from the NDBS or the EHDI. Includes confirmatory testing Includes collection of family history Includes audiology evaluation of hearing loss May include emergency treatment Includes case reporting to the health department Includes consultations and referrals Includes referrals for other support services such as dietary or early educational interventions Includes sharing de-identified data Includes bidirectional communication and educational materials Scenario 2 – Abnormal and Out of Range Results

18. 18 Newborn Screening – Scenario 2

19. 19 Datasets defined as part of the use case will standardize data exchange –Birth History –Newborn Information Required for Screening Order –Analytes and Conditions –Hearing Screenings –Date of Newborn Screening –Date of Diagnosis and Final Diagnosis –Date and Type of Referral –Date of Enrollment and Type of Treatment Plan/Services There is a need to report both the clinical conditions identified and the quantitative analytes measured on newborn screening There is also a need to standardize terminology and coding through the Resource Guide for NBS Draft Detailed Use Case Data Set Considerations

20. 20 Instructions –URL = http://www.hhs.gov/healthit/usecases/.http://www.hhs.gov/healthit/usecases/ –Instructions for providing feedback are included on the web page –Please provide feedback by Friday, 10/17/08 –Please identify Organization, Contact Name, and Contact Information in feedback response. –Please provide references to relevant Extension/Gap sections when submitting feedback. For General Questions, Comments, or Communications usecase@hhs.govusecase@hhs.gov Additional Opportunities for Participation: –Within feedback comments, please indicate willingness to be contacted for potential follow-up discussions, and/or: –Please feel free to suggest potential subject matter experts (including contact information) –Please feel free to send relevant reference documents and/or information Public Feedback Instructions

21. Next Steps to Complete the Use Case A final detailed use case will be completed in December The Health Information Technology Standards Panel HITSP will develop an Interoperability Specification for Newborn Screening HL7 is developing an Implementation Guide for Newborn Screening Laboratory Results Reporting that will be essential to the work of HITSP The Resource Guide for the NBS Use Case will provide terminology and codes After the Standards are accepted and recognized by the Secretary of HHS, they must be implemented by NBS Programs

22. Implementing the NBS Use Case It is essential to begin now to generate interest in implementing the newborn screening use case nationwide The use case will enable direct reporting of NBS results into EHR, but only if Health Department and Screening Laboratories implement the standards developed for the use case – software enhancements are needed Because of limited rates of EHR adoption, web access to reports will also be part of the use case De-identified data will be available for program monitoring, national reporting, and research The Use Case is a work order or statement of requirements for standards, it is the beginning of a long process

23. Resource Guide for Newborn Screening Draft Detailed Use Case

24. A listing of codes and coding standards appropriate for the entities that are important to newborn screening Conditions –MIM (Mendelian Inheritance in Man) –SNOMED (Systematized Nomenclature of Medicine) –EC (Enzyme Commission, International Union of Biochemistry and Molecular Biology) –ACMG (American College of Medical Genetics Analytes & clinical screening results (EHDI) –LOINC –Includes key sums and ratios Mappings –Analyte to condition –Condition to analyte

25. Example of Conditions

26. Example of Analytes

27. Example of Clinical Test Results

28. Example of Mapping (Condition to Analytes)

29. Demonstration of Web Version of the Newborn Screening Resource Database Temporary Developmental Location http://transparency.cit.nih.gov/screening

30. Maintaining the NBS Resource Guide The Resource Guide for the Newborn Screening Use Case is a work in progress that will require additional work to complete now, and on-going work to keep it current and complete. A revised version will be prepared to accompany the final detailed used case that will be published in December 2008 As new tests and new methods of screening are developed, and as new codes are created, they must be added to the resource guide Web access to the resource guide will facilitate collection of comments and use by laboratories The scope of the resource guide could expand to include more genomic information and links to other databases We need to find a home for the resource guide as the AHIC Workgroups are completing their work

31. Comments and Discussion Affirming the need for new roles for Health Information Technology in Newborn Screening Comments on the Draft Detailed Use Case –Stakeholders and perspectives –Barriers and privacy issues –Scenario 1 – initial screening –Scenario 2 – confirmatory testing Comments on the NBS Resource Guide and other dataset issues Plans for Assisting Implementation of the NBS Use Case –Role of the ACHDNC Plans for Maintaining and distributing the resource guide –Role of the ACHDNC