Planning for long-term follow-up data collection after newborn screening to advance research and improve service deliver

1. Planning for long-term follow-up data collection after newborn screening to advance research and improve service delivery and health outcomes Susan A. Berry, M.D. and Amy M. Brower, Ph.D for the Joint Committee NBSTRN Clinical Centers Workgroup and NCC/RC Long-Term Follow-Up Workgroup

2. Newborn Screening Saves Lives Act 2007 Amendment to the Public Health Service Act HRSA to award grants: Regional Collaboratives Expands ACHDNC Clearinghouse: Genetic Alliance CDC QA Interagency coordination Hunter Kelly Newborn Screening Research Program NBSTRN/NCC-RC Joint Workgroup 2 This statute amends the Public Health Service Act to facilitate the creation of Federal guidelines on newborn screening To assist State newborn screening programs in meeting federal guidelines To establish grant programs to provide for education and outreach on newborn screening and follow-up care once newborn screening has been conducted To reauthorize programs under Part A of Title XI of the Act The Act reauthorizes and expands the role of the Adv. Committee on Heritable Disorders in Newborns and Children (ACHDNC) Establishes an Interagency Coordinating Committee on Newborn and Child Screening Creates an internet-based information clearinghouse to provide information about newborn and child screening for heritable disorders Bill requires the Secretary of HHS To ensure the quality of laboratories involved in NBS activities To develop a national contingency plan for newborn screening Bill gives NIH the authority to carry out research in newborn screening, including identifying new screening technologies and researching diseases management strategies for the conditions that can be detected through screening (NIH program to be known as the Hunter Kelly Newborn Screening Research Program) This statute amends the Public Health Service Act to facilitate the creation of Federal guidelines on newborn screening To assist State newborn screening programs in meeting federal guidelines To establish grant programs to provide for education and outreach on newborn screening and follow-up care once newborn screening has been conducted To reauthorize programs under Part A of Title XI of the Act The Act reauthorizes and expands the role of the Adv. Committee on Heritable Disorders in Newborns and Children (ACHDNC) Establishes an Interagency Coordinating Committee on Newborn and Child Screening Creates an internet-based information clearinghouse to provide information about newborn and child screening for heritable disorders Bill requires the Secretary of HHS To ensure the quality of laboratories involved in NBS activities To develop a national contingency plan for newborn screening Bill gives NIH the authority to carry out research in newborn screening, including identifying new screening technologies and researching diseases management strategies for the conditions that can be detected through screening (NIH program to be known as the Hunter Kelly Newborn Screening Research Program)

3. Hunter Kelley Newborn Screening Research Program NBSTRN/NCC-RC Joint Workgroup 3 This statute amends the Public Health Service Act to facilitate the creation of Federal guidelines on newborn screening To assist State newborn screening programs in meeting federal guidelines To establish grant programs to provide for education and outreach on newborn screening and follow-up care once newborn screening has been conducted To reauthorize programs under Part A of Title XI of the Act The Act reauthorizes and expands the role of the Adv. Committee on Heritable Disorders in Newborns and Children (ACHDNC) Establishes an Interagency Coordinating Committee on Newborn and Child Screening Creates an internet-based information clearinghouse to provide information about newborn and child screening for heritable disorders Bill requires the Secretary of HHS To ensure the quality of laboratories involved in NBS activities To develop a national contingency plan for newborn screening Bill gives NIH the authority to carry out research in newborn screening, including identifying new screening technologies and researching diseases management strategies for the conditions that can be detected through screening (NIH program to be known as the Hunter Kelly Newborn Screening Research Program) This statute amends the Public Health Service Act to facilitate the creation of Federal guidelines on newborn screening To assist State newborn screening programs in meeting federal guidelines To establish grant programs to provide for education and outreach on newborn screening and follow-up care once newborn screening has been conducted To reauthorize programs under Part A of Title XI of the Act The Act reauthorizes and expands the role of the Adv. Committee on Heritable Disorders in Newborns and Children (ACHDNC) Establishes an Interagency Coordinating Committee on Newborn and Child Screening Creates an internet-based information clearinghouse to provide information about newborn and child screening for heritable disorders Bill requires the Secretary of HHS To ensure the quality of laboratories involved in NBS activities To develop a national contingency plan for newborn screening Bill gives NIH the authority to carry out research in newborn screening, including identifying new screening technologies and researching diseases management strategies for the conditions that can be detected through screening (NIH program to be known as the Hunter Kelly Newborn Screening Research Program)

4. 4 Regional Genetics and Newborn Screening Collaboratives NBSTRN/NCC-RC Joint Workgroup The RCs are comprised of clusters of neighboring states that share unique local needs and work to address the maldistribution of genetics providers and to strengthen and support the genetics and NBS capacities of statesThe RCs are comprised of clusters of neighboring states that share unique local needs and work to address the maldistribution of genetics providers and to strengthen and support the genetics and NBS capacities of states

5. Where to find your RC Through NCC: www.nccrcg.org, or NEGC: http://www.negenetics.org/ NYMAC: http://www.wadsworth.org/newborn/nymac/wg3member.html SERC: http://southeastgenetics.org/ Region 4: http://region4genetics.org/ Heartland: http://www.heartlandcollaborative.org/ MSGRCC: http://www.msgrcc.org/ WSGSC: http://www.westernstatesgenetics.org/ 5 NBSTRN/NCC-RC Joint Workgroup

6. Why was the NBSTRN Needed? NBSTRN/NCC-RC Joint Workgroup 6

7. NBSTRN Coordinating Center NBSTRN/NCC-RC Joint Workgroup 7

8. NBSTRN Coordinating Center NBSTRN/NCC-RC Joint Workgroup 8

9. NBSTRN Scope of Work Network of State NBS Programs and Clinical Centers National Research informatics system Repository of dried blood spots (virtual or real) IRB, consent, policy expertise and support Facilitate research on new technologies Facilitate research on effectiveness of treatments and long-term outcomes Statistical leadership and clinical trial design expertise Facilitate timely dissemination of research findings Recruit steering committee to make recommendations 9 Scope of work is established by the terms of the contractScope of work is established by the terms of the contract

10. Joint Committee NBSTRN/NCC-RC Joint Workgroup 10

11. SACHDNC Position Statement on LTFU Care coordination through a medical home Evidence-based treatment Continuous quality improvement New knowledge discovery NCQA and SACHDNC Subcommittee efforts HRSA supported demonstration and pilot projects CDC supported projects Focus on Long-Term Follow-Up NBSTRN/NCC-RC Joint Workgroup 11 The Secretary�s Advisory Committee recently defined the goal of LTFU as insuring the best possible health outcome for patients throughout their lifetime. The Secretary�s Advisory Committee defined the components of LTFU as Care coordination through a medical home Evidence-based treatment Continuous quality improvement New knowledge discovery Provides a guide as NBS programs develop, expand and improve the health management of children over time. The Secretary�s Advisory Committee recently defined the goal of LTFU as insuring the best possible health outcome for patients throughout their lifetime. The Secretary�s Advisory Committee defined the components of LTFU as Care coordination through a medical home Evidence-based treatment Continuous quality improvement New knowledge discovery Provides a guide as NBS programs develop, expand and improve the health management of children over time.

12. LTFU Data Sets OBJECTIVE: Develop a minimum data set with accompanying informatics tools to enhance health services delivery, empower research and facilitate surveillance in support of a broad group of stakeholders NBSTRN/NCC-RC Joint Workgroup 12

13. Related Newborn Screening Initiatives HRSA Efforts Regional Collaborative Efforts Pilot Projects: Priority 2 projects (R4P2) Clearinghouse NICHD Efforts Natural History Pilot Projects NBSTRN Rare Disease Consortia NBSTRN/NCC-RC Joint Workgroup 13

14. Goals and Deliverables Create data sets to support Translational research Service delivery and quality improvement Epidemiological research and surveys Deliverables Uniform data set Disease specific data sets New conditions data set(s) 14 NBSTRN/NCC-RC Joint Workgroup

15. Methodology Literature and Key Effort Review HRSA Demonstration Projects CDC Surveillance Project Stakeholder Engagement Expert workgroups Hemoglobinopathies Endocrinopathies Metabolic Disorders CF Hearing Loss SCID, LSD Standardization and Coding 15 NBSTRN/NCC-RC Joint Workgroup Workgroups comprised of experts in each of the diseases currently recommended in the uniform panel Series of national meetings to define a uniform minimum data set common to all screened conditions Additional meetings with content experts to define condition-specific data elements The uniform and condition-specific data elements and data dictionary will be transferred to the NLM for creation of informatics tools Workgroups comprised of experts in each of the diseases currently recommended in the uniform panel Series of national meetings to define a uniform minimum data set common to all screened conditions Additional meetings with content experts to define condition-specific data elements The uniform and condition-specific data elements and data dictionary will be transferred to the NLM for creation of informatics tools

16. NBS Stakeholders NBSTRN/NCC-RC Joint Workgroup 16

17. Defining a Uniform Data Set NBSTRN/NCC-RC Joint Workgroup 17

18. Progress to Date NBSTRN/NCC-RC Joint Workgroup 18 Approximately 100 questions have been defined comprising a minimum data set of interest for case ascertainment and longitudinal data collection across all screened disorders.Approximately 100 questions have been defined comprising a minimum data set of interest for case ascertainment and longitudinal data collection across all screened disorders.

19. Next Steps Finish data sets Transfer to National Library of Medicine (NLM) Review with Effective Follow-Up Workgroup Stakeholder buy-in Data dictionary & standardized language Develop data collection tool Bedside Electronic, Web access Interface with EMR Local and national warehouse Subcontract with CHOP Summarize, communicate and disseminate Pilot NBSTRN/NCC-RC Joint Workgroup 19

20. Conclusions A national community of specialty providers residing in public health, clinical centers and academic research centers can reach consensus regarding priorities for data collection for long-term follow-up. Creates a foundation for a uniform minimum data set to ascertain the clinical history of screened disorders and for both public health and research-related activities. We can collect LTFU data to improve outcomes for children identified by newborn screening NBSTRN/NCC-RC Joint Workgroup 20

21. Acknowledgements NBSTRN/NCC-RC Joint Workgroup 21