Newborn Screening Presentation

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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
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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

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New Roles for HIT in Newborn Screening
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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.

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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

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Consolidating the Silos
Patient ID 123LMNOP Name Jane Doe DOB
01/01/04 SSN N/A Address 555 Johnson
Road City Indianapolis State Indiana ZIP 46202
Jane Does Immunizations 3/1/04 DipTetaPur 3/1/0
4 HemInfB 3/1/04 PolioVir 3/1/04 HepaB
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
30936-9 30938-5 33555-4 30937-7
Global Patient Index
Immunization Registry
Global ID 45678 Name Jane Ellen Doe Lots of
Demographics.. MRF1 ID OU81247 MRF2 ID
4564356 PH MRF ID 123LMNOP MRF3 ID 6789XYZ
Patient ID 6789XYZ Name Jane Ellen Doe DOB
01/01/04 SSN123-45-6789 Address 555 Johnson
Road City Indianapolis State Indiana ZIP 46202
Jane Ellen Does Shots 5/1/04 DTaP
Imm 5/1/04 HIB Imm 5/1/04 IPV Imm 7/9/04 DTaP
Imm 7/9/04 IPV Imm
30936-9 30938-5 33555-4 30936-9 33555-4
Concept Dictionary
Electronic Medical Record System
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Consolidating the Silos
Clarian MRF
St. Vincent MRF
Global Patient Index
Immunization Registry
Global Patient Index
Concept Dictionary
Public Health MRF
Wishard MRF
Concept Dictionary
Electronic Medical Record System
Community MRF
IUMG MRF
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HL7 and Coding Standards

• OBX15CWE2Endocrine DisordersL107Borderline
  gt48Hrs lt1500LOH-C-03-002THE SCREEN FOR
  CONGENITAL ADRENAL HYPERPLASIA IS ABNORMAL. 
  FURTHER FOLLOW-UP IS NECESSARY TO EVALUATE THIS
  INFANT.Llt 50 ng/mlA20070727040000

This is an observation
The observation name is Endocrine Disorders
with a local code
The observation value is Borderline gt48Hrs
lt1500 Local code OH-C-03-002
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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

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Newborn Screening Draft Detailed Use Case
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AHIC Priorities and Use Case Roadmap
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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.

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NBS Use Case Scope The AHIC Request

• 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

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Newborn Screening - Perspectives

• 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

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Scenario 1 Ordering and Resulting

• 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

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Newborn Screening Scenario 1
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Scenario 2 Abnormal and Out of Range Results

• 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

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Newborn Screening Scenario 2
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Data Set Considerations

• 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

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Public Feedback Instructions

• Instructions
• URL 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_at_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

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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

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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

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Resource Guide for Newborn ScreeningDraft
Detailed Use Case
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Resource Guide for Newborn Screening Draft
Detailed Use Case

• 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

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Example of Conditions
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Example of Analytes
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Example of Clinical Test Results
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Example of Mapping (Condition to Analytes)
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Demonstration of Web Version of the Newborn
Screening Resource Database

• Temporary Developmental Location
• http//transparency.cit.nih.gov/screening

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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

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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