Integrated NBS

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Integrated NBS Genetic Service
SystemsInstitute for Leaders in State Title V
CSHCN Programs WorkshopMay 2003

• Health Resources and Services Administration
• Maternal and Child Health Bureau
• Presented by Michele A. Lloyd-Puryear, MD, PhD

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Newborn Screening
Each year 4 million U.S. infants are screened to
detect conditions that threaten their life and
long-term health
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Brief Newborn Screening History

• 1930s diaper test for PKU
• 1950s treatment for PKU
• 1960s filter paper test for PKU, research,
  automated filter paper punching
• 1970s thyroid testing, sickle cell testing,
  CAH testing, expanded metabolic testing
• 1980s computerized data management and
  tracking, automation research
• 1990s DNA from filter paper, MS/MS
  techniques, CF studies, infectious
  diseases (HIV)

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Brief Newborn Screening History

• 2000s

• Newborn hearing screening
• Public pressure to expand testing with MS/MS
• Emphasis on program integration (especially data)

Newborn Hearing Screening (OAE)

• Privacy concerns residual blood spot, federal
  HIPAA rules (data sharing)

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9
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??
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More than 8 Disorders
??
Only 1 Disorder Technically Mandated
8 Disorders
7 Disorders
U.S. Newborn Screening Mandated Disorders
November 2002
6 Disorders
5 Disorders
4 Disorders
3 Disorders
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States With Mandated MS/MS Testing In Place
States With Official MS/MS Pilots or Optional
MS/MS Testing
Pointer to Location of MS/MS Testing Laboratory
Location of MS/MS Testing Laboratory
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Components of Newborn Screening System

• Management
• Treatment
• Long-term follow-up
• Specimen storage

• Screening
• Newborn initial test
• Analysis of test
• Repeat, as necessary

• Evaluation
• Quality assurance
• Outcome evaluation
• Cost effectiveness

• Follow-up
• Receive results
• Give Physician/family results
• Obtain Diagnostic tests
• Link to diagnosis/ treatment

• Diagnosis
• Assessment by specialist
• Results shared with family

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Medical Home

• Provide ongoing care for children that receive
  screening
• Provide valuable information for and benefit from
  integrated data systems
• Assist State Programs in tracking and follow-up

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Newborn Screening Task Force

• Improved coordination and integration of
  information systems is needed.

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Implementation of Task Force Report

• Facilitate the development of public health
  infrastructure
• Enhance and expand newborn screening programs
  (NBS)
• Improve linkages between NBS programs, the state
  and community systems of care for CSHCN

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INBSSS Initiative

• GOAL
• To improve the health and quality of life for
  newborns and children with or at risk for genetic
  disorders and their families

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INBSSS Initiative

• Title V MCH SPRANS Genetic Services
• Planning Grants to 22 States
• Implementation Grants to 11 States
• Joint Program Initiative Grants to 5 States
• SourceBook on Best Practices
• Self-Assessment Guide

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INBSSS Initiative

• Implementation Grants
• District of Columbia
• Hawaii
• Indiana
• Iowa
• Massachusetts

• Michigan
• Missouri
• Oklahoma
• Rhode Island
• Utah
• Washington State

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INBSSS Initiative

• Joint Program Initiative
• Collaboration GSB ODIM
• Infrastructure building must include information
  systems
• Data systems must be driven by program and be
  efficient and cost-effective

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INBSSS InitiativeLessons Learned Public
Health 1

• NBS and genetics program needs must drive
  technology development
• States are concerned about security of data
  (HIPAA Compliance, Family Educational Rights and
  Privacy Act)
• Development of systems must respond to diverse
  data needs of public health and community-based
  medical home
• Change is hard and slow

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INBSSS InitiativeLessons Learned Public
Health 2

• Communication across all stakeholders is critical
  to the success of the project
• Ongoing struggle to ensure that families have
  input into the whole process
• Advisory Committees must be part of the
  infrastructure
• Advisory Committee structure must be developed

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INBSSS InitiativeLessons Learned Medical
Home

• Must have simple, quick to use forms that do not
  require significant investment in more
  hardware/software and integrate with existing
  office systems
• Need access to screening results immediately with
  or without Web access
• Physicians need additional funding support to
  provide a Medical Home to CSHCN

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INBSSS Initiative Lessons Learned Families

• Wary of having information used to discriminate
  against them
• Generally support information sharing for their
  benefit
• Want childs information in a single place where
  they control access
• Should not be asked for the same data multiple
  times

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• Genetics and Newborn Screening Resource Center of
  the U.S.
• NNSGRC Website
• http//genes-r-us.uthscsa.edu

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Program Contact Michele Puryear, MD, PhD Genetic
Services Branch Maternal and Child Health
Bureau Health Resources and Services
Administration 301-443-1080 mpuryear_at_hrsa.gov http
//mchb.hrsa.gov/
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