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PLANNING FOR LONG-TERM FOLLOW-UP DATA COLLECTION AFTER NEWBORN SCREENING TO ADVANCE RESEARCH AND IMPROVE 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

Newborn Screening Saves Lives Act 2007 Amendment to the Public Health Service Act w Newborn Screening Saves Lives Act 2007 Amendment to the Public Health Service Act w HRSA to award grants: Regional Collaboratives w Expands ACHDNC w Clearinghouse: Genetic Alliance w CDC QA w Interagency coordination w Hunter Kelly Newborn Screening Research Program NBSTRN/NCC-RC Joint Workgroup 2

Hunter Kelley Newborn Screening Research Program Identifying, developing, and testing the most promising new Hunter Kelley Newborn Screening Research Program Identifying, developing, and testing the most promising new screening technologies, in order to improve already existing screening tests, increase the specificity of newborn screening, and expand the number of conditions for which screening tests are available Experimental treatments and disease management strategies for additional newborn conditions, and other genetic, metabolic, hormonal and or functional conditions that can be detected through newborn screening for which treatment is not yet available. Public Law 110 -204 Newborn Screening Saves Lives Act of 2007 Work in consultation with the appropriate State departments of health, and focus research on screening technology not currently performed in the States and conditions on the uniform screening panel NBSTRN/NCC-RC Joint Workgroup Other activities that would improve newborn screening, as identified by the Director. 3

Regional Genetics and Newborn Screening Collaboratives Do You Know Which RC is in YOUR Regional Genetics and Newborn Screening Collaboratives Do You Know Which RC is in YOUR Neighborhood? NBSTRN/NCC-RC Joint Workgroup 4

Where to find your RC w Through NCC: www. nccrcg. org, or w NEGC: Where to find your RC w Through NCC: www. nccrcg. org, or w NEGC: http: //www. negenetics. org/ w NYMAC: http: //www. wadsworth. org/newborn/nymac/wg 3 member. html w SERC: http: //southeastgenetics. org/ w Region 4: http: //region 4 genetics. org/ w Heartland: http: //www. heartlandcollaborative. org/ w MSGRCC: http: //www. msgrcc. org/ w WSGSC: http: //www. westernstatesgenetics. org/ N 5 BSTRN/NCC-RC Joint Workgroup

Why was the NBSTRN Needed? Rare diseases with highly variable phenotypes over the lifespan Why was the NBSTRN Needed? Rare diseases with highly variable phenotypes over the lifespan that are widely distributed geographically Multiple competing technology platforms and treatments aimed at increasingly small subsets of rare disease groups Necessary core infrastructure and resources cannot be duplicated for each disease and patient population NBSTRN/NCC-RC Joint Workgroup 6

NBSTRN Coordinating Center Researchers Clinical Centers Network Coordinating Center Stakeholders NBSTRN/NCC-RC Joint Workgroup State NBSTRN Coordinating Center Researchers Clinical Centers Network Coordinating Center Stakeholders NBSTRN/NCC-RC Joint Workgroup State NBS Programs Network Standing Committee • Clinical Centers • Laboratory • Bioethics & Legal Issues • IT & Informatics 7

NBSTRN Coordinating Center Standing Committee Harvey Levy, MD & Susan Berry, MD Clinical Coordinating NBSTRN Coordinating Center Standing Committee Harvey Levy, MD & Susan Berry, MD Clinical Coordinating Centers Laboratory Susan Berry, MD Kathryn Hassell, MD NBSTRN/NCC-RC Joint Workgroup Stan Berberich, Ph. D Bioethics & Legal Issues Jeffrey Brosco, MD, Ph. D Edward Goldman, JD IT & Informatics Peter White, Ph. D 8

NBSTRN Scope of Work 1. 2. 3. 4. 5. 6. Network of State NBS NBSTRN Scope of Work 1. 2. 3. 4. 5. 6. 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 7. Statistical leadership and clinical trial design expertise 8. Facilitate timely dissemination of research findings 9. Recruit steering committee to make recommendations NBSTRN/NCC-RC Joint Workgroup 9

Joint Committee Hans Andersson, MD Kathleen Arnos, Ph. D, FACMG Richard Auchus, MD, Ph. Joint Committee Hans Andersson, MD Kathleen Arnos, Ph. D, FACMG Richard Auchus, MD, Ph. D Susan Berry, MD (co-chair) Louis Bartoshesky, MD, MPH, MALS Anne Comeau, Ph. D Patty Duffner, MD James Eckman, MD Lisa Feuchtbaum, Dr. Ph, MPH Nancy Green, MD Katharine Harris, MBA Kathryn Hassell, MD (co-chair) Carolyn Hoppe, MD Stephen Kahler, MD NBSTRN/NCC-RC Joint Workgroup Celia Kaye, MD, Ph. D Dwight Koeberl, MD, Ph. D Stephen La. Franchi, MD Jill Levy-Fisch Nicola Longo, MD, Ph. D Julie Luedtke John Moeschler, MD, MS Arti Pandya, MD, MBA Jennifer Puck, MD Kiki Sarafoglou, MD Robert Saul, MD Dari Shirazi Rani Singh, Ph. D, RD, LD Phyllis Speiser, MD Janet Thomas, MD 10

Focus on Long-Term Follow-Up w SACHDNC Position Statement on LTFU • • Care coordination Focus on Long-Term Follow-Up w SACHDNC Position Statement on LTFU • • Care coordination through a medical home Evidence-based treatment Continuous quality improvement New knowledge discovery w NCQA and SACHDNC Subcommittee efforts w HRSA supported demonstration and pilot projects w CDC supported projects NBSTRN/NCC-RC Joint Workgroup 11

LTFU Data Sets OBJECTIVE: w Develop a minimum data set with accompanying informatics tools LTFU Data Sets OBJECTIVE: w 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

Related Newborn Screening Initiatives w HRSA Efforts § Regional Collaborative Efforts § Pilot Projects: Related Newborn Screening Initiatives w HRSA Efforts § Regional Collaborative Efforts § Pilot Projects: Priority 2 projects (R 4 P 2) § Clearinghouse w NICHD Efforts § Natural History § Pilot Projects § NBSTRN § Rare Disease Consortia NBSTRN/NCC-RC Joint Workgroup 13

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

Methodology w Literature and Key Effort Review § HRSA Demonstration Projects § CDC Surveillance Methodology w Literature and Key Effort Review § HRSA Demonstration Projects § CDC Surveillance Project w Stakeholder Engagement w Expert workgroups § § § Hemoglobinopathies Endocrinopathies Metabolic Disorders CF Hearing Loss SCID, LSD w Standardization and Coding NBSTRN/NCC-RC Joint Workgroup 15

NBS Stakeholders • • State Public Health Departments Patient Family Caregivers Community Advocacy Organizations NBS Stakeholders • • State Public Health Departments Patient Family Caregivers Community Advocacy Organizations NBSTRN/NCC-RC Joint Workgroup Medical Providers Consumers • • • Pediatricians • Family Physicians • Metabolic Dieticians • Subspecialty Physicians • Birthing Hospital • Diagnostic Laboratories Screening Laboratories Follow-Up Programs IT Teams EDHI Teams Researchers • Care Coordinators • • • Academic Centers Clinical Centers Federal Agencies Professional Societies Rare Disorders Network 16

 • • SES Family History Prenatal History Neonatal History Birth Measurements Newborn Screening • • SES Family History Prenatal History Neonatal History Birth Measurements Newborn Screening Hearing Screening Diagnostic Testing NBSTRN/NCC-RC Joint Workgroup Childhood Intake • Demographics • Monitoring Labs • Diet • Therapies • Emergency Management • Developmental Screening • Imaging Studies • Intercurrent Complications Adulthood Defining a Uniform Data Set • • Monitoring Labs Diet Therapies Emergency Management • Imaging Studies • Intercurrent Complications 17

Progress to Date Data Set Disorders Status Metabolic • Fatty Acid Oxidation Disorders • Progress to Date Data Set Disorders Status Metabolic • Fatty Acid Oxidation Disorders • Organic Acid Disorders • Amino Acid Disorders • 13/13 Drafts Complete • 14/17 Drafts Complete • 10/14 Drafts Complete Endocrinopathies • Congenital Hypothryroidism (CH) • Congenital Adrenal Hyperplasia (CAH) In Progress • Sickle Cell Anemia (Hb S/S) Hemoglobinopathies • S-Beta Thalassemia (Hb S/A) • Sickle – C Disease (Hb S/C) In Progress Genetic • Cystic Fibrosis (CF) • Severe Combined Immunodeficiency (SCID) • Stakeholder Engagement • In Progress Hearing Loss • Hearing Loss In Progress NBSTRN/NCC-RC Joint Workgroup 18

Next Steps w w w Finish data sets Transfer to National Library of Medicine Next Steps w w w 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 w Summarize, communicate and disseminate w Pilot NBSTRN/NCC-RC Joint Workgroup 19

Conclusions w A national community of specialty providers residing in public health, clinical centers Conclusions w 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. w 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. w We can collect LTFU data to improve outcomes for children identified by newborn screening NBSTRN/NCC-RC Joint Workgroup 20

Acknowledgements NBSTRN is funded by contract HHSN 27520080001 C from the Eunice Kennedy Shriver Acknowledgements NBSTRN is funded by contract HHSN 27520080001 C from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health NCC is funded by U 22 MC 03957, awarded as a cooperative agreement between the Health Resources and Services Administration, Maternal and Child Health Bureau, Genetic Services Branch and the American College of Medical Genetics R 4 P 2: HRSA MCHB U 22 MC 03963 –Region 4 Priority 2 Project Follow-up Activity: Inborn Errors of Metabolism Information System (IBEM-IS) Cameron and Berry NBSTRN/NCC-RC Joint Workgroup 21