Kenneth Gersing MD Anne Pariser MD NCATS NIH August 29 2017 Outline 2 GRDR History and Background Demonstration project 20102013 Data mapping exercise 20152017 Current status Next steps ID: 672782
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Slide1
GRDR Update Webinar
Tiina Urv, PhDKenneth Gersing, MDAnne Pariser, MDNCATS, NIH
August 29, 2017Slide2
Outline
2GRDR History and Background
Demonstration project (2010-2013)
Data mapping exercise (~2015-2017)
Current status
Next stepsSlide3
GRDR Background
3Global
R
are Diseases Patient Registry
D
ata
R
epository (GRDR)
Began in 2010 as a demonstration project (aka proof of concept (POC) pilot)Aims:“…develop a Web-based resource that aggregates, secures and stores de-identified patient information from different registries for rare diseases, all in one place.”1 “…validat(e) and implemen(t) (Common Data Elements) CDEs”“…gaug(e) general interest from the rare disease community”
1
From: The NIH/NCATS GRDR Program, About the GRDRSlide4
GRDR: Demonstration Project
4Demonstration project ran from 2010-2013
Included 12 patient advocacy group (PAG) registries
Goals:
Develop Common Data Elements (CDEs)
Enable information collected from different sources:
Be presented in consistent formats
Be defined in the same way
Use same standards and vocabularyEnable collection, pooling and analysis of registry datasetsGRDR developed a “model registry” of CDEs, predominantly (among others):2Demographic data, family historyDiagnosis, birth historyCommunication and preferences
2
From: The NIH/NCATS GRDR Program, Common Data Elements (CDEs)Slide5
GRDR: Data Mapping Project
5Demonstration project concluded in 2013Next
phase
: use lessons learned from demonstration project to conduct an exercise to test the mapping of data from registries to available standards
Supplemental grant awarded to Harvard Medical School (HMS) Dept. of Biomedical Informatics (DBMI)
Led by Drs. Isaac
Kohane
and Paul
AvilachAims: Integrate existing patient registriesAggregate multiple registries into common data modelFacilitate data sharing data with wider research communityFacilitate discoverySlide6
Data Mapping Result
6Data mapping largely completed
Create a unified database of multiple registries
Mapped to more than 20 ontologies
E.g., ICD9, ICD10,
SnoMED
,
MeSH
, HPO, etc.Imported common model into TranSMART for analysisCreated a data portal for investigators to have accessSlide7
Lessons Learned
7Combining existing Registry data is not scalable
~7000 rare diseases – 12 registries (two years) = 6988
Post Processing of data is not realistic. Need to plan for better data prior to data collection
CDEs: Need to be harmonized with existing standards
CDEs: Need modules for greater efficiency
CDEs: Need to be “tiered”, for example, modules for common core elements (e.g., demographics) as well as disease specific elements
Disease specific creation should be operationalized to insure standardizing
CDEs should focus on connecting phenotype to genotypeSlide8
Current Status
8No additional registries are planned
No additional data mapping is plannedSlide9
Next Steps
9Data from mapping exercise is ready for transfer back to PAGs Mapped to >20 ontologies
In Oracle and CSV formats
Will be stored/archived through
August 2018
Please contact Paul
Avilach
to arrange for transfer of your data back to youSlide10
Next Steps (2)
10Plans to develop an accessible portal for registry building and data standards advice have been initiatedInitial multi-disciplinary meeting “Data Standards for Registries: Facilitating the Flow of Information” was held June 28
th
Next steps – additional meetings and communication vehicles will be plannedSlide11
Next Steps (3)
11GRDR Website to be revised to reflect current innovative directionNew name:
Ra
re
D
ise
a
se
Registries (RaDaR)Link: https://rarediseases.info.nih.gov/radar Slide12
12
RaDaR
PreviewSlide13
13
GUID PreviewSlide14
14
RaDaR
Preview (2)Slide15
NIH CDE Repository PreviewSlide16
16
RaDaR
Preview (3)Slide17
17Slide18
NCATS Toolkit for Patient-focused Drug Development
18Related initiativeInclusive of tools and advice to assist patient groups with furthering their research
Scheduled to launch Sept 8Slide19
19Slide20
20Slide21
Next Steps (4)
21Discuss ideas for continued hosting and curationSlide22
Questions
22Please see attached Frequently Asked Questions Additional questions and discussionSlide23
RaDaR Website
23Please visit the new
RaDaR
Website at:
https://rarediseases.info.nih.gov/radar