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.