ADNI Data and Publications: A Unique Model of Open Data Access
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1 ADNI Data and Publications: A Unique Model of Open Data Access Robert C. Green, MD, MPH Associate Director for Research, Partners Center for Personalized Genetic Medicine Division of Genetics, Department of Medicine Brigham and Women s Hospital, Harvard Medical School
2 NIH Grant Funding U01 HG (Green) R01 HG (Green) R01 HG (Green) K24 AG (Green) R01 AG (Qiu) P50 HG (Church) R21 HG00603 (Wang) U01 AG (Weiner) R01 AG (Tschanz) R01 HG06615 (Holm) P60 AR (Karlson/Katz) R01 HG (Wolf)* RC1 HG (Holm)* R21 DK (Grant)* *recently completed
3 ADNI Data and Publications Committee
4 ADNI DPC Responsibilities Manage access to ADNI data Design and update policies for data access Approve access for each user Maintain table of users and their goals Obtain annual renewal for each user Troubleshoot data access for users Manage publication process for ADNI users Review each manuscript for compliance Track publications Intervene with journal editors when necessary
5 ADNI is a unique experiment in open data access credit to Mike Weiner, Arthur Toga and the Informatics Core (Ivani Dos Santos, Karen Crawford), and the Executive Committee
6 Four Interlocking Policies Create Innovative Data Sharing System 1. Consent for sharing 2. Applications for data access 3. Data downloads 4. Manuscript management
7 Consent for Sharing broad sharing explicitly requested willingness to trust
8 Consent for Sharing
9 RORR Statement Locations in ADNI Consents ADNI n = 58 ADNI-GO n = 55 ADNI-2 n = 56 PET-PIB n = 15 Total n = 184 Access to research records Benefits Confidentiality Procedures Risks Sample storage and future use Incidental findings Use of results in clinical care What else do you need to know?
10 RORR Statement Referenced in ADNI Consents (ADNI-2) Type of data referenced in RORR statement Routinely returned Not returned If clinically significant No statement present Total Biomarker Genetic Imaging, MRI Imaging, PET Imaging, Florbetapir Imaging, Nonspecific Lab tests Lumbar puncture Neuropsychological Nonspecific statement Total
11 Applications for Data Access simple application process rapid review of applicants low threshold for acceptance no control over analysis plans
12 ADNI Data Use Agreement
13 Number of Applications Number of Accepted and Rejected Applications per Year Total Accepted 300 Rejected Academic Year
14 Number of Accepted Applications Number of Accepted Applications by Sector per Year University/Research Industry Government Other Academic Year
15 Number of Accepted Applications Number of Accepted Applications by Country Per Year USA United Kingdom China Japan Canada Other Academic Year
16 Number of Investigators in Applications Number of Investigators of Approved Applications by Education Level of User Applicants Per Year Bachelor's 300 Master's PhD/MD Academic Year
17 Data Download available in real time (no embargo) re-sharing not permitted
18 Individuals Downloading Data Number of Users that Downloaded Each File at Least Once Imaging Non-imaging Zip files Individual files Table B2: Non-imaging downloads and imaging downloads aggregated by number of users that downloaded a file at least once per year. Each unit in the count refers to
19 Number of Image Downloads Imaging Downloads Per Year Academic Year
20 Manuscript Management rapid administrative review limited scientific review publication tracking
21 ADNI Publications
22 Manuscripts from ADNI Total Reviewed by ADNI DPC 515 Total Published 247 Total Epubs 24 Total In Press 5 Total Under Revision 2 Total In Submission 220 Total Withdrawn 11 Under Review by ADNI 6 Total Using ADNI Data Not Reviewed by DPC 35 In compliance with requirements 6 Not in compliance with requirements 29 Total Manuscripts Using ADNI Data 550
23 Manuscripts Submitted to DPC Requiring 1 or No Revisions No Revision Required 1 Revision Required 53% 47%
24 Manuscripts Published Without Compliance to ADNI Publishing Policy: 35 Paper s published without reviewed by DPC 6 Published in compliance with ADNI Data requirements, although they did not receive formal DPC review 29 Published without compliance to ADNI Data Protocol 20 Missing or Incomplete ADNI Acknowledgement with Authorship 19 Missing or Incomplete Acknowledgement of Grants and Sponsors 7 Missing or Incomplete Methods Section
25 Number of Published Manuscripts Number of Published Manuscripts with and without DPC Review per Year Number of Published Manuscripts Reviewed by DPC Number of Published Manuscripts Not Reviewed by DPC Calendar Year
26 ADNI Sequencing Initiative Lead: Co-Lead: Structure: Robert C. Green Andy Saykin Arthur Toga Genetics Core Informatics Core Data & Publications
27
28 Medical sequencing: a disruptive technology Time Period Genomes NIH reference 2. Celera reference Turnaround time FTEs Cost per genome ~5 years ~5,000 ~$2-3 billion additional ~6 months Dozens $300,000 30, weeks 3-4 $10,000 1, Millions 15 minutes <<1 $ machines each machine generates 1.2 Mb 1 machine generates 400 Mb per day In development 150 Mb in 6 hours
29 The first humans to be sequenced
30 It is estimated that 30,000 genomes will be sequenced by the end of 2011, with over 9000 in the USA. From: Genomes by the thousand Nature 467.
31
32 Too Much Data? Translational scientist 40 foot wall of data
33 Too Much Data?
34 Too Much Data?
35 Variant Filtration 2 5 Million Variants Pathogenic Annotation (DB Truncating Specific) GeneTests Genes Predicted Impact (Tool Specific) Frequency <1% Familial Segregation Other Bins Variants to Be Manually Assessed 0-2 Causative Variants Slide courtesy of Sandy Aronson
36 ADNI Cases Sent for Sequencing N = 818 AD ~ 128 MCI ~ 415 Controls ~ 267 Unstable ~ 8
37
38 Questions??
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