Transcript NCC LTFU Project and the NBSTRN CC

NCC Long-Term
Follow-Up Project and
the NBSTRN CC
November 17, 2009
Amy Hoffman, MPH
Project Manager, NBSTRN
Amy Brower, PhD
Project Manager, NCC LTFU
Presentation 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 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 Who
American College of Medical Genetics
(ACMG)
Michael Watson, Executive Director
Newborn Screening Translational Research Network
(NBSTRN)
Michael Watson, PI
Amy Hoffman, Project Manager
National Coordinating Center for the
Newborn Screening and Genetic
Services Collaboratives (NCC)
Michael Watson, PI
Judith Benkendorf, Project Director
Alisha Keehn, Project Manager
NBS LTFU Special Supplement
Amy Brower, Project Manager
Barry Thompson, Medical Director
Lori Oxendine, Publications Manager
Kathy Beal, Media Relations
Claudia McNatt, Meeting Manager
Irina Smotrich, Administrative Assistant
 NCC is a cooperative agreement between GSB/MCHB/HRSA and ACMG
 NBSTRN CC is a contract between NICHD and ACMG
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Relationship of 1-Year NBS LTFU Special
Supplement to NCC (FY 2010)
Cooperative Agreement: MCHB/HRSA
NCC
Mike Watson, PI
Judith Benkendorf, Project Director
Alisha Keehn, Project Manager
Gloria Weissman, MCH Consultant
NBS LTFU Special Supplement
Amy Brower, Project Manager
NCC/RC Leadership
Group: RCs,
HRSA/MCHB and
other key partners*
LTFU Work Group:
Sue Berry, Chair
Key Partner Organizations for all efforts include NNSGRC, AAP and APHL. 5
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 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 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?
 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 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 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 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
 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 CC
NBSTRN CC
Michael Watson, PI
Amy Hoffman, Project Manager
Standing Committee
Harvey Levy, Chair
Clinical Centers
Workgroup
Laboratories
Workgroup
Information
Technology
Workgroup
Bioethics
Workgroup
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Key Partner Organizations for all efforts include NNSGRC, AAP and APHL.
NBSTRN 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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NBSTRN
RESEARCHERS
IT Infrastructure/
Website
Facilitate
Research on
Treatments
and LTFU
Center
B
Center
A
center
C
Center
D
Center
E
Clinical Centers
Network
NBSTRN CC
Provide
Expertise &
Support
Coordinating all activities
and resources
LTFU Data
Standing Committee
Labs
WG
CC
WG
IT
WG
ELSI
WG
State
B
Dissemination of
Research Findings
Biospecimen
Repository
State
A
State
C
State
D
State
E
State NBS Programs
Network
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NBSTRN CC Three Main Areas of Activity
Resource Identification
Education and
Information
Sharing
Technical
Assistance
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NBSTRN CC Resource Identification
 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
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NBSTRN 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 Sharing
 Public relations
 Publications and meetings
 Future trends and guidance
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NBSTRN 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 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 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.
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