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Harnessing Dynamic Data for
Newborn Screening Research
NBSTRN Network Meeting
Bethesda, MD
September 9th, 2016
Awareness creates opportunity
Principles• Immediate access and exploration
• Interoperability, reproducibility, provenance
• Secure environment
• Distribution node (e.g., dbGaP)
NBSmart• Query, reporting, discovery
• Virtual cohorts- Clinical associations
- Genotype-phenotype correlations
LPDR as a Data Commons
Behavioral economics
Vibrant data communities- PubMed Central
- ExAC server
- TCGA
- Linux
• Well-defined roles/rules
• Simple roles/rules
• Actor-oriented
• Incentivized participation
Uncertainty
Reasons given for not sharing data
48% Not required
42% IP/confidentiality
37% Don’t know how/where
31% Cost
26% Data parasites
26% Misinterpretation/misuse
23% Ethical concerns
22% Credit/attribution
12% Not useful
Derived from: Ferguson L, Exchanges Blog, Wiley Publishing, 11-3-14
Role: Domain expert
Objective: Consensus data representation• Shared authorship
• Consistency and interoperability
• Governance process
Outcome: Standardized data models
Engagement: Leadership and recognition
Actor-oriented participation
Actor-oriented participation
Role: Data provider
Objective: Consistent data provisioning• Standardized data
• Best data practices
• Distributed data collection
Outcome: Aggregation of high-quality data
Engagement: Grants, re-use
13
Subject Longitudinal Care Record
2000 Today
• Intake • Visit • Study Status
Dem
ogra
phic
s
• Consent
• Diagnosis
• Race
Health H
isto
ry
• Prenatal
• Neonatal
Initia
l Testing
• NBS
• Genotype
Fam
ily H
isto
ry
• Parents
• Siblings
Healt
h H
isto
ry
• Immunizations
• Sick Visits
• Procedures
Exam
• Growth
• DevelopmentA
ncil
lary • Care Coordination
• Education
• Emergency
Management
Stu
die
s • Labs
• Home Monitoring
• Imaging
Pu
lmo
na
ry
Stu
dy S
tatu
s
PT
Neu
rolo
gy
• Pharmacotherapy
Tre
atm
en
t
• Nutrition
• Therapy
Data capture
Role: Data consumer
Objective: Compelling NBS research• Appropriate access to longitudinal data
• Clinical, observational, and molecular data
• Integrity, consistency, accuracy
• Query, report, and explore
Outcome: New discoveries
Engagement: Insights, academic output
Actor-oriented participation
LPDR successes:• Consensus representation
• Data technologies
• Access immediacy
Challenges:• Scaling best data practices
• Participation incentives• Clinicians
• Researchers
• Appropriate governance model
• Role-based compliance management
LPDR