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Harnessing Dynamic Data for

Newborn Screening Research

NBSTRN Network Meeting

Bethesda, MD

September 9th, 2016

Themes

Opportunity

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

Systems

Process

Data networking

People

Challenge

Themes

Cu

ltu

res

Behavioral economics

Vibrant data communities- PubMed Central

- ExAC server

- TCGA

- Facebook

- Linux

• Well-defined roles/rules

• Simple roles/rules

• Actor-oriented

• Incentivized participation

Systems People

Process

Data socialization

Questions:• Can I share?

• What should I share?

• How can I share?

• Why would I share?

Landscape

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

100 users

20,000 elements

1.1M data points

70 disorders

1900 subjects

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

LPDR community

CCHMC

• Nick Felicelli

• Michael Kuhlmann

• Guillaume Labilloy

• Andy Rupert

• Prakash Valayutham

• Michael Wagner

• Pete White

NBSTRN

• Bruce Bowdish

• Amy Brower

• Chris Day

• Steve Grimaldi

• Jen Loutrel

• Mike Watson