Draft Detailed Newborn Screening Draft Detailed Newborn Screening Use Case and Resource GuideUse Case and Resource Guide

Advisory Committee on Heritable Disorders in Advisory Committee on Heritable Disorders in Newborns and ChildrenNewborns and Children

Stephen M Downs MDStephen M Downs MDIndiana University School of MedicineIndiana University School of MedicineAHIC Personalized Healthcare WorkgroupAHIC Personalized Healthcare Workgroup

Alan E Zuckerman MD Alan E Zuckerman MD Georgetown University School of Medicine, consultant ONCGeorgetown University School of Medicine, consultant ONC

Oct 2, 2008Oct 2, 2008

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

New Roles for HIT in Newborn Screening

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.

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

Consolidating the Silos

ImmunizatioImmunization Registryn Registry

Electronic Electronic Medical Record Medical Record

SystemSystem

Patient ID: 123LMNOPPatient ID: 123LMNOPName: Jane Doe Name: Jane Doe DOB: 01/01/04DOB: 01/01/04SSN: N/A SSN: N/A Address: 555 Johnson RoadAddress: 555 Johnson RoadCity: IndianapolisCity: IndianapolisState: IndianaState: IndianaZIP: 46202ZIP: 46202

Patient ID: 6789XYZPatient ID: 6789XYZName: Jane Ellen DoeName: Jane Ellen DoeDOB: 01/01/04DOB: 01/01/04SSN:123-45-6789SSN:123-45-6789Address: 555 Johnson Address: 555 Johnson RoadRoadCity: IndianapolisCity: IndianapolisState: IndianaState: IndianaZIP: 46202ZIP: 46202

Global Global Patient Patient IndexIndex

Concept Concept DictionaryDictionary

Global ID:Global ID: 4567845678Name: Name: Jane Ellen Doe Jane Ellen Doe Lots of Demographics..Lots of Demographics..MRF1 ID: MRF1 ID: OU81247OU81247MRF2 ID: MRF2 ID: 45643564564356PH MRF ID: PH MRF ID: 123LMNOP123LMNOPMRF3 ID:MRF3 ID: 6789XYZ6789XYZ

DTaP Dose Count:DTaP Dose Count: 30936-930936-9HIB Dose Count:HIB Dose Count: 30938-530938-5IPV Dose Count:IPV Dose Count: 33555-433555-4VZV Dose Count:VZV Dose Count: 30943-530943-5MMR Dose Count:MMR Dose Count: 30940-130940-1HepB Dose Count:HepB Dose Count: 30937-730937-7

Jane Doe’s Immunizations:Jane Doe’s Immunizations:

3/1/043/1/04 DipTetaPurDipTetaPur3/1/043/1/04 HemInfBHemInfB3/1/043/1/04 PolioVirPolioVir3/1/043/1/04 HepaBHepaB

Jane Ellen Doe’s Shots:Jane Ellen Doe’s Shots:

5/1/045/1/04 DTaP ImmDTaP Imm5/1/045/1/04 HIB ImmHIB Imm5/1/045/1/04 IPV ImmIPV Imm7/9/047/9/04 DTaP ImmDTaP Imm7/9/047/9/04 IPV ImmIPV Imm

30936-30936-9 9 30938-30938-5 5 33555-33555-4 4 30937-30937-77

30936-30936-9 9 30938-30938-5 5 33555-33555-4 4 30936-30936-9 9 33555-33555-44

Consolidating the Silos

ImmunizatioImmunization Registryn Registry

Electronic Electronic Medical Record Medical Record

SystemSystem

Global Global Patient Patient IndexIndex

Concept Concept DictionaryDictionary

St. St. Vincent Vincent

MRFMRF

Clarian Clarian MRFMRF

Wishard Wishard MRFMRF

Community MRFCommunity MRF

Public Public Health MRFHealth MRF

Global Global Patient Patient IndexIndex

IUMG MRFIUMG MRF

Concept Concept DictionaryDictionary

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

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

Newborn Screening Draft Detailed Use Case

11

AHIC Priorities and Use Case Roadmap

2006 2007 Use Cases

Consumer Empowerment

· Registration· Medication

History

AHIC Priorities and Use Case Roadmap

Consumer Access to Clinical

Information

· Access to Clinical Data

· Provider Permissions

· PHR Transfer

Medication Management

· Medication Reconciliation

· Ambulatory Prescriptions

· Contra-indications

EHR (Lab)

· Laboratory Result Reporting

Emergency Responder

EHR

· On-Site Care· Emergency Care· Definitive Care· Provider

Authentication and Authorization

Patient – Provider Secure

Messaging

· Structured email

· Reminders

· Referrals· Problem Lists· Transfer of Care

Personalized Healthcare

· Laboratory Genetic / Genomic Data

· Family Medical History

2008 Use Cases

Quality

· Hospital Measurement and Reporting

· Clinician Measurement and Reporting

· Feedback to Clinicians

Biosurveillance

· Visit· Utilization· Clinical Data· Lab and

Radiology

Public HealthCase Reporting

· Case Reporting· Bidirectional

Communication· Labs· Adverse Events

Immunizations & Response

Management

· Resource Identification

· Vaccine· EHR Data

RemoteMonitoring

· Remote Monitoring of Vital Signs and Labs (Glucose)

2009 Use Case

Medical Home:Co-Morbidity and Registries

Maternal and Child Health

Prior Auth for Treatment, Payment, & Operations

Long Term Care - Assessments

Consumer AE Reporting

Consultations and Transfers of

Care

General Laboratory Orders

Medication Gaps

Common Device Connectivity

Order Sets

Consumer Preferences

Common Data Transport

Clinical Encounter Notes

Newborn Screening

2009 Use Case Ext/Gaps

Scheduling

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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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• 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

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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

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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

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Newborn Screening – Scenario 1

Contextual

Perspectives/ Roles

Health Information Exchange

OR

Point-to-PointExchange

OR

Public Health Intermediary

OR

Specialty Networks

Specialty Healthcare

Entities

Government & Regulatory Agencies

Other EHRs

Information Sources & Recipients

May be one or more of those listed below:

Research Entities

PHRs

Laboratory Associations

Other Public Health Agencies & Organizations

7.1 Ordering Clinician

7.1.1 Receive and Utilize Screening

Policies & Requirements

7.2 Consumer

7.2.1 Receive Information Per

Policies

7.3 Public Health

7.3.1 Determine & Communicate

Screening Policies & Requirements

7.4 Testing Laboratory

7.4.1 Receive & Acknowledge

Receipt of Order & Specimen

7.5 Audiology Services

7.5.1 Receive & Acknowledge

Receipt of Order

9.0 Information Exchange

7.1.2 Gather & Augment EHR Information

7.2.2 Provide Consent & Requested Information

4

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7.1.3a Order Hearing Test

7.1.4 Collect Specimen(s)

7.1.5 Communicate Order & Send

Specimen

7.1.6 Perform Second Specimen

Requirements

7.3.2 Receive & Acknowledge

Receipt of Order & Specimen

7 7

7.4.2 Perform Testing & Report

Results

7.5.2 Perform Testing & Report

Results

7.1.7 Receive Results

8

7.3.3 Receive EHDI Results

9a

To Scenario 2: Abnormal and Out of Range Results

12

2

9

7.3.5 Integrate Results to PH

System Focus

Legend

7.1.3b Order Lab Test(s)

6

6

7

7.3.4 Receive NDBS Lab Results

6

9

5

5

7

9

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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

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Newborn Screening – Scenario 2

ContextualFocus

Legend

Perspectives/ Roles

Health Information Exchange

OR

Point-to-PointExchange

OR

Public Health Intermediary

OR

Specialty Networks

Specialty Healthcare

Entities

Government & Regulatory Agencies

Other EHRs

Information Sources & Recipients

May be one or more of those listed below:

Research Entities

PHRs

Laboratory Associations

Other Public Health Agencies & Organizations

8.1 Pediatric Clinician

8.1.1 Receive Abnormal or Out of Range Results and

Educational Materials

8.2 Consumer

8.2.1 Provide Detailed Family

History

8.3 Public Health

8.3.2 Receive Detailed Family

History

8.4 Laboratory

8.4.1 Receive & Acknowledge

Receipt of Order & Specimen

8.5 Audiology Services

8.5.1 Receive & Acknowledge

Receipt of Order

9.0 Information Exchange

8.1.2 Gather Detailed Family

History

8.2.2 Provide Confirmatory NDBS

8.1.3 Order Repeat Specimen and

Confirmatory Test(s)

8.1.4 Collect Specimen(s)

8.1.5 Communicate Order & Send

Specimen

8.3.3 Receive Confirmatory Order

Information

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8.4.2 Perform Testing & Report

Results

8.5.2 Perform Testing & Report

Results

148.16 Receive

Results

Public Health Case Reporting Detailed Use Case March 21, 2008

14

15

8.2.3 Confirmatory EHDI testing

8.1.7 Public Health Case Reporting

10

10a

8.3.1 Collect and Distribute Disorder

Information

12

12

15

10b

8.2.4 Receive Clinical Interventions

and Support Services

8.3.5 Conduct Long Term Follow-up

8.18 Request Referral & Place

Intervention Orders

Personalized Health Care and Consultations and Transfers of Care Detailed Use Cases March 21, 2008

13

12

11

8.3.4 Request Referral & Place

Intervention Orders

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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

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• 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@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

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

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

Resource Guide for Newborn Screening

Draft Detailed Use Case

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

Example of Conditions

Example of Analytes

Example of Clinical Test Results

Example of Mapping (Condition to Analytes)

Demonstration of Web Version of the Newborn Screening Resource

Database

Temporary Developmental Locationhttp://transparency.cit.nih.gov/

screening

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

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