NCC Long-Term Follow-Up Project and the NBSTRN CC

1. NCC Long-Term Follow-Up Project and the NBSTRN CC November 17, 2009 Amy Hoffman, MPH Amy Brower, PhD Project Manager, NBSTRN Project Manager, NCC LTFU

2. 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

3. 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

4. ACMG Who’s Who NCC is a cooperative agreement between GSB/MCHB/HRSA and ACMG NBSTRN CC is a contract between NICHD and ACMG 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

5. Relationship of 1-Year NBS LTFU Special Supplement to NCC (FY 2010) Cooperative Agreement: MCHB/HRSA Key Partner Organizations for all efforts include NNSGRC, AAP and APHL.

6. 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 6

7. 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 7

8. 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 8

9. 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. 9

10. 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 10

11. 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.

12. 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.

13. 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.

14. NBSTRN CC NBSTRN CC Michael Watson, PI Amy Hoffman, Project Manager Standing Committee Harvey Levy, Chair Clinical Centers Workgroup Bioethics Workgroup Information Technology Workgroup Laboratories Workgroup Key Partner Organizations for all efforts include NNSGRC, AAP and APHL.

15. 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)

16. NBSTRN center C IT Infrastructure/ Website Center B Facilitate Research on Treatments and LTFU Center D Center A Center E Clinical Centers Network Standing Committee NBSTRN CC Coordinating all activities and resources Labs WG CC WG ELSI WG IT WG Provide Expertise & Support LTFU Data State C State B State D Dissemination of Research Findings Biospecimen Repository State A State E State NBS Programs Network RESEARCHERS

17. NBSTRN CC Three Main Areas of Activity Resource Identification Education and Information Sharing Technical Assistance

18. 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

19. 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

20. NBSTRN CC Education and Information Sharing Public relations Publications and meetings Future trends and guidance

21. 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

22. 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

23. 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.