1. National Center for Environmental Health Centers for Disease Control and Prevention Presented by Carla D. Cuthbert, Ph.D. Chief, Newborn Screening and Molecular Biology Branch Division of Laboratory Sciences National Center for Environmental Health Friday 14 th November 2014 Guidance for HIT Coding and HL7 Electronic Messaging in Newborn Screening

2. Disclosure This presentation summarizes the efforts coordinated by the Lister Hill National Center for Biomedical Communications at the National Library of Medicine in collaboration with members of the Newborn Screening Community Grateful to Rebecca Goodwin of NLM/NIH for the use of slides and is best able to answer questions about implementation. Rebecca has been instrumental in NLM efforts to develop and deploy the Newborn Screening Coding and Terminology Guide website, and has played an integral role in NLM’s collaboration with HRSA to develop guidance for newborn screening results coding and HL7 messaging. *I am not an IT specialist*

3. Newborn Screening  Largest population-based genetic screening program –>98% of babies screened yearly in the U.S. –>75% of babies screened in Europe –25-30% of babies screened worldwide  Laboratory screening functions –State public health laboratories and other contract laboratories (U.S.) –Government, hospital, university, and private laboratories worldwide

4. Current Challenges Faced by Newborn Screening Programs  URGENCY: Turnaround times are critical  SCOPE: Responsible for testing all newborns in the State/Province/Region  NETWORK: Many providers need to work together to ensure a robust system  FOLLOW-UP: Reporting “out-of-range” results; locating newborns, short term follow-up, long term care and surveillance  BUDGET: Restrictions, being required to do more with less, staff retention

5. Challenge: High Throughput Testing with Large Menus NYNBSPMANBSP MNNBSP TXNBSP WINBSP Courtesy NBS programs of NY, WI, MA, MN and TX New YorkMassachusetts Minnesota Texas Wisconsin

6. Complexity of Newborn Screening Programs Courtesy Susan Tanksley, TX NBS Program Green circle = NBS program

7. Benefits of Standardizing NBS Data  Rapid Reporting and Exchange of Information  Many recipients can receive results at the same time  Reduce errors in transmission  Efficient Sharing of Data  Programs have interconnected pieces that need to be communicated  Information can be shared between laboratories and follow-up programs  Data can be gathered and re-used  Data from one source can be cross-referenced with other data sources (eg birth certificates, hearing screen results, immunization registries)  Data can be aggregated for research and Quality Assurance

8. Background  Development of the HRSA/NLM guidance for sending electronic NBS result messages has been a collaborative effort with input from federal and state agencies and organizations  Guidance is based on nationally-accepted standards  LOINC® … for test results and card variables  SNOMED CT ….. for NBS conditions  UCUM© ….. units of measure for quantitative results  HL7 … for electronic messaging using above codes  Guidance has been approved by the SACHDNC* / DACHDNC** Laboratory Standards and Procedures Subcommittee  Initially released in September 2009 *Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children **Secretary’s Discretionary Advisory Committee on Heritable Disorders in Newborns and Children

9. What Needed to be Standardized?  Messaging Format  The Egg Carton – container  Standard messaging format to electronically convey the content  HL7  The Content  The “Eggs”  Standard codes for test names, analytes, conditions screened and other categorical answers  LOINC and SNOMED CT

10. Evolution of NBS Standards  American Health Information Community (AHIC) Personalized Healthcare Workgroup’s NBS Subgroup developed lists of conditions & associated measurements  NLM created formal database for storing and managing  Fill in gaps, made some corrections, added attributes  Built the Newborn Screening Coding and Terminology Guide website and added report capability for many kinds of subsets  In collaboration with HRSA, CDC and other organizations, NLM developed guidance for a v2.x HL7 message that uses standard codes  LOINC and SNOMED CT

11. LOINC  LOINC = Logical Observation Identifiers Names and Codes  Universal code system for identifying laboratory and clinical observations (test results) in HL7 messages  Used widely in US and internationally  No cost license in perpetuity  Supported by NLM and Regenstrief Institute (Indianapolis)  http://search.loinc.org/

12. SNOMED CT  SNOMED CT = Systematized Nomenclature of Medicine – Clinical Terms  Emerging international clinical terminology standard  Comprehensive – over 300,000 concepts  Multilingual clinical health care terminology standard designed for use in EHR systems and in health data exchange

13. SNOMED CT  Originally developed by the College of American Pathologists  Ownership transferred to the International Health Terminology Standards Development Organisation (IHTSDO)  12 member countries including US, Canada, UK, Australia, Netherlands, Sweden and Spain.  Available free of charge to IHTSDO member countries (including the US), low-income countries as defined by the World Bank, and qualified research projects in any country

14. HRSA/NLM guidance for reporting NBS results  There was a major 2-year effort to define the variables and their answer lists with lots of public comment and national input  LOINC NBS AHIC panel  Codes and answer lists  Annotated example HL7 message  Both are available at: http://newbornscreeningcodes.nlm.nih.gov

15. Standard Codes and Names were Encouraged  There are variations between states’ NBS data and also how they report results  By condition, analyte, disease groups (e.g. amino acidemias, fatty acid oxidation disorders, acylcarnitines)  Different DBS card variables and answer lists  LOINC NBS panel is a flexible template that encompasses this variability, but encourages standardizing  Each state or NBS program can tailor and customize the HL7 message to suit their needs while still using standard universal codes to facilitate comparing “apples to apples” (interoperability)

16. LOINC NBS AHIC PANEL 54089-8

17.  LOINC AHIC NBS Panel is available under the HL7 tab  It covers the Core conditions of the Recommended Newborn Screening Panel (RUSP) plus other conditions for which a US Newborn Screening program screens  18 panel codes (used to group LOINC Codes)  153 codes for measured results or calculations  30 codes for interpretations and comments/discussions  12 card variables with answer lists for categorical variables Website location … http://newbornscreeningcodes.nlm.nih.gov See attached pdf file: Newborn screening panel American Health Information Community (AHIC)

18. Features of the LOINC NBS AHIC Panel  Nested hierarchy and grouping  Methodology and definitions/descriptions  Required / Optional / Conditions  Cardinality  This specifies whether the field is required, and whether you can have multiple repeated values  Data types and Categorical Answer lists  Codes for Interpretation and Comments/discussion  Available as a pdf … can also be downloaded as an xls file with all of the information in 3 relational database tables

20. ELECTRONIC MESSAGING USING HL7 VERSION 2.X

21. What is HL7?  Health Level Seven is an international messaging standard for the healthcare domain  HL7 version 2 … almost universally available in large practices, laboratories and hospitals  Final rule for meaningful use standards and certification requires HL7 version 2.3.1 or 2.5.1 for laboratory reporting  Used widely internationally as well … Germany, Netherlands, France, Japan etc

22. A Mock-up Annotated HL7 Message for NBS is given as an example  It is based on real but completely de-identified message data from multiple states  Message Structure  The Administrative Elements (MSH, PID, NK1 etc)  The Payload:  The OBX Segments are grouped and indented below the OBRs … eg Acylcarnitine tests  Includes both interpretations and quantitative measure  Each discrete interpretation/measurement is reported in a separate OBX and identified by a LOINC Code

23. Example HL7 Galactosemia Panel http://newbornscreeningcodes.nlm.nih.gov/nb/sc/download/HL7_NBS_example.pdf

24. ADOPTION, IMPLEMENTATION AND NEXT STEPS

25. Adoption and Implementation  This has been adopted by three major Newborn Screening IT vendors  They are producing HL7 messages or prototypes that reflect most of this guidance

26. Next Steps  NLM/NIH continue to lead on this project  Address issues as they arise  NOTE: This is done in collaboration with NBS stakeholders and subject matter experts  Fine-tuning and tweaking in response to suggestions  New Codes need to be added whenever new conditions are to be added to the Recommended Uniform Screening Panel (RUSP)  POMPE already added  Other conditions being considered

27. Major Contact for NBS HIT Guidance and Coding newbornscreeningcodes@nlm.nih.gov Download LOINC NBS AHIC Panel and annotated example HL7 Message (Under HL7 tab) http://newbornscreeningcodes.nlm.nih.gov Contact for NBS HIT Guidance and Coding: Rebecca Goodwin Project Manager and Advisor to the Director Lister Hill Nat’l Center for Biomedical Communications National Library of Medicine, NIH Rebecca.Goodwin@nih.gov (301) 451-4635

28. NLM Team and Collaborators NLM Team (Past and Present) Clem McDonald Rebecca Goodwin Alan Zuckerman Swapna Abhyankar May Cheh Phil Wolf Kin Wah Fung Laritza Taft Genetics Home Reference Team Collaborators HRSA HHS ONC CDC (NCBDDD/NCEH) NIH (NICHD and HLBI) APHL/NewSTEPS ACMG Genetic Alliance NNSGRC Lab System Vendors *State newborn Screening Programs* Other NBS Stakeholders