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NCC Long-Term Follow-Up Project and the NBSTRN CC
NCC Long-Term Follow-Up Project and the NBSTRN CC
November 17, 2009November 17, 2009
Amy Hoffman, MPH Amy Hoffman, MPH Amy Brower, PhDAmy Brower, PhD
Project Manager, NBSTRNProject Manager, NBSTRN Project Manager, NCC LTFUProject Manager, NCC LTFU
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Presentation OverviewPresentation Overview
Alphabet Soup American College of Medical Genetics (ACMG)
Overview National Coordinating Center (NCC) Long-Term
Follow-up (LTFU) Newborn Screening Translational Research
Network (NBSTRN) Coordinating Center (CC) Joint Activities
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Alphabet SoupAlphabet Soup
ACMG = American College of Medical Genetics NCC = National Coordinating Center for the Newborn
Screening and Genetic Services Collaboratives GSB/MCHB/HRSA = Genetic Services Branch, Maternal
and Child Health Bureau, Health Resources and Services Administration
RC = Regional Genetic Service and Newborn Screening Collaborative
NICHD = Eunice Kennedy Shriver National Institute of Child Health and Human Development
NBSTRN = Newborn Screening Translational Research Network
NBSTRN CC = Newborn Screening Translational Research Network Coordinating Center
ACHDNC = Advisory Committee on Heritable Disorders in Newborns and Children
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ACMG Who’s WhoACMG Who’s Who
NCC is a cooperative agreement between GSB/MCHB/HRSA and ACMG NBSTRN CC is a contract between NICHD and ACMG
Barry Thompson, Medical DirectorLori Oxendine, Publications Manager
Kathy Beal, Media RelationsClaudia McNatt, Meeting Manager
Irina Smotrich, Administrative Assistant
American College of Medical Genetics(ACMG)
Michael Watson, Executive Director
National Coordinating Center for the Newborn Screening and Genetic
Services Collaboratives (NCC)Michael Watson, PI
Judith Benkendorf, Project DirectorAlisha Keehn, Project Manager
NBS LTFU Special SupplementAmy Brower, Project Manager
Newborn Screening Translational Research Network(NBSTRN)
Michael Watson, PIAmy Hoffman, Project Manager
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Relationship of 1-Year NBS LTFU Special Supplement to NCC (FY 2010)Relationship of 1-Year NBS LTFU Special Supplement to NCC (FY 2010)
Key Partner Organizations for all efforts include NNSGRC, AAP and APHL.
Cooperative Agreement: MCHB/HRSA
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What is the NCC/RC System?What is the NCC/RC System?
The NCC/RC System was established by HRSA/MCHB/GSB in 2004 to improve the health of children and their families by: 1) promoting the translation of genetic medicine into public
health and healthcare services, and 2) enhancing access to these services.
System components: 1 NCC 7 RCs
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RC Goals and ObjectivesRC Goals and Objectives
The primary goal of the RCs is to ensure that individuals with heritable disorders and their families have access to quality care and appropriate genetic expertise and information in the context of a medical home.
This is accomplished by: Developing infrastructure and capacity Strengthening communication and collaboration among public
health, individuals, families, primary care providers, and genetic medicine and other subspecialty providers
Evaluating outcomes and using these data to enhance efforts
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RC StructureRC Structure
RCs have a regional coordinating center and stakeholders that include: Families Genetics service providers Primary care providers Public health
• Newborn screening programs and laboratories• Community Health Centers, Indian Health Service, etc.
States • Health departments• Emergency planning and response
Others, such as industry and professional organizations
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What Does the NCC Do?What Does the NCC Do?
The NCC facilitates local work of the RCs in building capacity to strengthen and support genetics and newborn screening (NBS) services in order to address the maldistribution of genetic services and resources.
Maximizing collaboration between the genetic services, primary care/Medical Home, NBS and public health communities is central to all NCC and RC activities.
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NCC Activities Include…NCC Activities Include…
NCC activities that strengthen genetic services and research include: Broad consumer participation and education
opportunities A dynamic national provider network and
searchable directory of services Telegenetics capacity-building NBS data collection and long-term follow-up
activities NBS emergency preparedness Development and dissemination of management
guidelines around NBS and transition of care
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NCC Focus on LTFUNCC Focus on LTFU
Special supplement to NCC focused on LTFU. Work Group chaired by Sue Berry.
ACHDNC defined the goal of LTFU as assuring the best possible outcome for individuals with disorders identified through newborn screening.*
Four components identified: Care coordination through a medical home Evidence-based treatment Continuous quality improvement New knowledge discovery *Kemper et al. Genet Med 2008:10(4):259-261.
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NCC LTFU and Health Information ExchangeNCC LTFU and Health Information Exchange
LTFU requires health information exchanges throughout the lifetime of newborn screening identified patients.*
LTFU information systems should utilize best practice approaches to information technology development.
LTFU information systems should connect stakeholders, processes and outcomes through the collection, integration, evaluation and sharing of key data and metrics.
*Hinman et al. Genet Med 2009:11(6):418-424.
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NCC LTFU Main Areas of Activity NCC LTFU Main Areas of Activity
Accelerate and concentrate LTFU efforts. Determine information systems needs of state
newborn screening programs to conduct LTFU of newborn screening identified patients.
Incorporate findings into a public health evaluation tool that can be used to monitor and improve LTFU.
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NBSTRN CCNBSTRN CC
Key Partner Organizations for all efforts include NNSGRC, AAP and APHL.
NBSTRN CCMichael Watson, PI
Amy Hoffman, Project Manager
Standing CommitteeHarvey Levy, Chair
Clinical CentersWorkgroup
LaboratoriesWorkgroup
Information TechnologyWorkgroup
BioethicsWorkgroup
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NBSTRN CC Key Features and ObjectivesNBSTRN CC Key Features and Objectives
NICHD initiative Development of national resources to support
research and development related to newborn screening
Long-term follow-up of NBS Developing evidence base for NBS candidate
conditions Newborn screening laboratory network Clinical centers network Infrastructure development (informatics based)
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IT Infrastructure/Website
NBSTRNNBSTRN
State NBS ProgramsNetwork
State C
State B
State D
State E
State A
Clinical CentersNetwork
centerC
CenterE
CenterB
CenterD
CenterA
Biospecimen Repository
RESEARCHERS
Provide Expertise & Support
NBSTRN CCCoordinating all activities
and resources
Dissemination of Research Findings
Standing Committee
Labs WG
CC WG
IT WG ELSI WG
Facilitate Research on Treatments and LTFU
LTFU Data
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NBSTRN CC Three Main Areas of ActivityNBSTRN CC Three Main Areas of Activity
Education and Information Sharing
TechnicalAssistance
Resource Identification
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Clinical Centers Networks Disease registries, diagnosis, and long-term follow-up data Biospecimen repositories Funding opportunities
State Newborn Screening Laboratory/Program Networks Dried blood spot repository (goal 5+ million) NBS laboratory network for pilot studies
Informatics and Information Technology IT infrastructure
• Converting NCIs cancer biomedical informatics grid (caBIG) as appropriate or developing compatible tools
• Developing tools to link specimen repositories with registries and long-term follow-up clinical information
NBSTRN CC Resource IdentificationNBSTRN CC Resource Identification
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NBSTRN CC Technical AssistanceNBSTRN CC Technical Assistance
Disease specific data sets (i.e. protocols for diagnosis and follow-up) development and review Associated disease-specific standardized languages for
laboratory and clinical parameters
Laboratory standards State newborn screening program policies, procedures
and capacities Bioethics review Study design and statistical consulting State and local IRB policies, procedures and alignment
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NBSTRN CC Education and Information SharingNBSTRN CC Education and Information Sharing
Public relations Publications and meetings Future trends and guidance
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NBSTRN CC Current ProjectsNBSTRN CC Current Projects
During Year 1: Established Standing Committee &
Workgroups Defined uniform data set for LTFU w/ NCC LTFU
workgroup (formerly Data Collection) 80% uniform to all NBS conditions 20% disease specific
Collected NBS laboratory information Initiated website development Considered IT Infrastructure options and
designs
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NBSTRN CC Future ActivitiesNBSTRN CC Future Activities
Develop collaboration with APHL Characterize NBS labs
Capacity Technical capability Policies
Identify NBS lab network participants and needs Develop biospecimen repository partners Establish clinical networks as needed Classify LTFU criteria Standardize language
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Joint NCC LTFU and NBSTRN CC ActivitiesJoint NCC LTFU and NBSTRN CC Activities
Establish initial clinical histories of disorders identified in NBS for use in public health and research initiatives.
Initial focus on metabolic diseases utilizing several LTFU data collection efforts as a baseline.
Expand focus to endocrinopathies, hemoglobinopathies, cystic fibrosis, hearing loss and other NBS identified disorders.
Communicate findings to groups developing health care information technologies standards for consideration.
Coordinate activities with GSB/MCHB/HRSA, CDC and NICHD.