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

PLANNING FOR LONG-TERM PLANNING FOR LONG-TERM FOLLOW-UP DATA COLLECTION FOLLOW-UP DATA COLLECTION AFTER NEWBORN SCREENING TO AFTER NEWBORN SCREENING TO ADVANCE RESEARCH AND ADVANCE RESEARCH AND IMPROVE SERVICE DELIVERY AND IMPROVE SERVICE DELIVERY AND HEALTH OUTCOMESHEALTH OUTCOMES

PLANNING FOR LONG-TERM PLANNING FOR LONG-TERM FOLLOW-UP DATA COLLECTION FOLLOW-UP DATA COLLECTION AFTER NEWBORN SCREENING TO AFTER NEWBORN SCREENING TO ADVANCE RESEARCH AND ADVANCE RESEARCH AND IMPROVE SERVICE DELIVERY AND IMPROVE SERVICE DELIVERY AND HEALTH OUTCOMESHEALTH OUTCOMES

Susan A. Berry, M.D. and Amy M. Brower, Ph.DSusan A. Berry, M.D. and Amy M. Brower, Ph.D

for the Joint Committeefor the Joint Committee

NBSTRN Clinical Centers Workgroup NBSTRN Clinical Centers Workgroup

andand

NCC/RC Long-Term Follow-Up WorkgroupNCC/RC Long-Term Follow-Up Workgroup

Newborn Screening Saves Lives Newborn Screening Saves Lives ActAct

2007 Amendment to the Public Health Service 2007 Amendment to the Public Health Service Act Act

HRSA to award grants: Regional CollaborativesHRSA to award grants: Regional Collaboratives Expands ACHDNCExpands ACHDNC Clearinghouse: Genetic AllianceClearinghouse: Genetic Alliance CDC QACDC QA Interagency coordinationInteragency coordination Hunter Kelly Newborn Screening Research Hunter Kelly Newborn Screening Research

ProgramProgram

NBSTRN/NCC-RC Joint Workgroup 2

Hunter Kelley Newborn Hunter Kelley Newborn Screening Research ProgramScreening Research Program


4

Regional Genetics and Newborn Screening Regional Genetics and Newborn Screening CollaborativesCollaboratives

NBSTRN/NCC-RC Joint Workgroup

Do You Know Which RC is in YOUR Neighborhood?

Where to find your RCWhere to find your RC

Through NCC: www.nccrcg.org, orThrough NCC: www.nccrcg.org, or NEGC: NEGC: http://www.negenetics.org/http://www.negenetics.org/

NYMAC: NYMAC: http://www.wadsworth.org/newborn/nymac/wg3member.html http://www.wadsworth.org/newborn/nymac/wg3member.html

SERC: SERC: http://southeastgenetics.org/ http://southeastgenetics.org/

Region 4: Region 4: http://region4genetics.org/ http://region4genetics.org/

Heartland: Heartland: http://www.heartlandcollaborative.org/ http://www.heartlandcollaborative.org/

MSGRCC: MSGRCC: http://www.msgrcc.org/ http://www.msgrcc.org/

WSGSC: WSGSC: http://www.westernstatesgenetics.org/ http://www.westernstatesgenetics.org/

5NBSTRN/NCC-RC Joint Workgroup

Why was the NBSTRN Needed?Why was the NBSTRN Needed?


NBSTRN Coordinating CenterNBSTRN Coordinating Center


Coordinating Center

NBSTRN Scope of WorkNBSTRN Scope of Work

1. Network of State NBS Programs and Clinical Centers

2. National Research informatics system

3. Repository of dried blood spots (virtual or real)

4. IRB, consent, policy expertise and support

5. Facilitate research on new technologies

6. 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


Joint CommitteeJoint Committee


Hans Andersson, MDKathleen Arnos, PhD, FACMGRichard Auchus, MD, PhDSusan Berry, MD (co-chair)Louis Bartoshesky, MD, MPH, MALSAnne Comeau, PhDPatty Duffner, MDJames Eckman, MDLisa Feuchtbaum, DrPh, MPHNancy Green, MDKatharine Harris, MBAKathryn Hassell, MD (co-chair)Carolyn Hoppe, MDStephen Kahler, MD

Celia Kaye, MD, PhDDwight Koeberl, MD, PhDStephen LaFranchi, MDJill Levy-FischNicola Longo, MD, PhDJulie LuedtkeJohn Moeschler, MD, MSArti Pandya, MD, MBAJennifer Puck, MDKiki Sarafoglou, MDRobert Saul, MDDari ShiraziRani Singh, PhD, RD, LDPhyllis Speiser, MDJanet Thomas, MD

SACHDNC Position Statement on LTFUSACHDNC Position Statement on LTFU• Care coordination through a medical homeCare coordination through a medical home• Evidence-based treatmentEvidence-based treatment• Continuous quality improvementContinuous quality improvement• New knowledge discoveryNew knowledge discovery

NCQA and SACHDNC Subcommittee effortsNCQA and SACHDNC Subcommittee efforts HRSA supported demonstration and pilot HRSA supported demonstration and pilot

projectsprojects CDC supported projectsCDC supported projects

Focus on Long-Term Follow-UpFocus on Long-Term Follow-Up


LTFU Data SetsLTFU Data Sets

OBJECTIVE:OBJECTIVE: Develop a minimum data set with Develop a minimum data set with

accompanying informatics tools to enhance accompanying informatics tools to enhance health services delivery, empower research health services delivery, empower research and facilitate surveillance in support of a broad and facilitate surveillance in support of a broad group of stakeholdersgroup of stakeholders


Related Newborn Screening Related Newborn Screening InitiativesInitiatives

HRSA EffortsHRSA Efforts Regional Collaborative EffortsRegional Collaborative Efforts Pilot Projects: Priority 2 projects (R4P2)Pilot Projects: Priority 2 projects (R4P2) ClearinghouseClearinghouse

NICHD EffortsNICHD Efforts Natural HistoryNatural History Pilot ProjectsPilot Projects NBSTRNNBSTRN Rare Disease ConsortiaRare Disease Consortia


Goals and DeliverablesGoals and Deliverables

Create data sets to supportCreate data sets to support Translational researchTranslational research Service delivery and quality improvementService delivery and quality improvement Epidemiological research and surveysEpidemiological research and surveys

DeliverablesDeliverables Uniform data setUniform data set Disease specific data setsDisease specific data sets New conditions data set(s)New conditions data set(s)


MethodologyMethodology

Literature and Key Effort ReviewLiterature and Key Effort Review HRSA Demonstration ProjectsHRSA Demonstration Projects CDC Surveillance ProjectCDC Surveillance Project

Stakeholder EngagementStakeholder Engagement Expert workgroupsExpert workgroups

HemoglobinopathiesHemoglobinopathies EndocrinopathiesEndocrinopathies Metabolic DisordersMetabolic Disorders CFCF Hearing LossHearing Loss SCID, LSDSCID, LSD

Standardization and CodingStandardization and Coding


NBS StakeholdersNBS Stakeholders


Defining a Uniform Data SetDefining a Uniform Data Set


Progress to DateProgress 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

Hemoglobinopathies• Sickle Cell Anemia (Hb S/S)• 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

Next StepsNext Steps

Finish data setsFinish data sets Transfer to National Library of Medicine (NLM)Transfer to National Library of Medicine (NLM) Review with Effective Follow-Up WorkgroupReview with Effective Follow-Up Workgroup Stakeholder buy-inStakeholder buy-in Data dictionary & standardized languageData dictionary & standardized language Develop data collection toolDevelop data collection tool

BedsideBedside Electronic, Web accessElectronic, Web access Interface with EMRInterface with EMR Local and national warehouseLocal and national warehouse Subcontract with CHOPSubcontract with CHOP

Summarize, communicate and disseminateSummarize, communicate and disseminate

PilotPilot


ConclusionsConclusions

A national community of specialty providers A national community of specialty providers residing in public health, clinical centers and residing in public health, clinical centers and academic research centers can reach academic research centers can reach consensus regarding priorities for data consensus regarding priorities for data collection for long-term follow-up.collection for long-term follow-up.

Creates a foundation for a uniform minimum Creates a foundation for a uniform minimum data set to ascertain the clinical history of data set to ascertain the clinical history of screened disorders and for both public health screened disorders and for both public health and research-related activities.and research-related activities.

We can collect LTFU data to improve outcomes We can collect LTFU data to improve outcomes for children identified by newborn screeningfor children identified by newborn screening


AcknowledgementsAcknowledgements


NBSTRN is funded by contract HHSN27520080001C from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health

NCC is funded by U22MC03957, 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

R4P2: HRSA MCHB U22MC03963 –Region 4 Priority 2 Project Follow-up Activity: Inborn Errors of Metabolism Information System (IBEM-IS) Cameron and Berry

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