Genomic Data Sharing

Division Of Basic Sciences - Nci

Investigators

Abstract

The NIH Genomic Data Sharing Policy (GDS) applies to NIH-funded research that generates large-scale human or non-human genomic data. The CCR Director mandates genomic data sharing for rare diseases/cancers with no minimum thresholds. The GDS Policy expanded 11/1/2018 to include public access to Genomic Summary Results. The Office of Science Policy (OSP) released the NIH Policy for Data Management and Sharing (DMS Policy) 10/29/2020 that expands scientific data sharing from NIH-funded or conducted research effective 1/25/2023. OSP convened a Clinical Research Subgroup of the Trans NCI DMS Implementation Working Group and Dr. Calzone has been assigned. At the inaugural meeting it was shared that Genomic Program Administrations (GPA) will NOT be involved in DMS policy implementation except through the working group term. GPAs and GPA Administrators will only be involved in GDS content. The Office of Intramural Research (OIR) will lead DMS policy implementation, the intramural Data Management and Sharing Plan template, mechanisms for plan submission, and will monitor for compliance. This subgroup meets monthly until the DMS policy launch. Investigator Resources: Dr. Calzone is the Genomic Program Administrator (GPA) and primary contact for CCR investigators. The GPA Administrator (GPA-A) position was vacant until Margaux Seyler-Schmidt started 2/7/2022. She serves the secondary contact for CCR investigators, the primary contact for CBIIT and assists with data pulls, study registrations and now auditing old and new portal data. Between, 7/6/2021-2/6/2022 all activities were handled by Dr. Calzone. The role of the GPA and GPA-A include attendance at the OSP and ODS periodic meetings to learn about new policy developments that will impact CCR investigators. The GPA works with the GDS regulatory aspects, leads the CCR Sensitivity Review committee with assistance of the GPA A and reviews all entered determinations and discusses with the committee if there are issues. She enters final sensitivity determinations in iRIS in time for scientific review. She serves as the interface when the need arises to engage ODS. She handles any CCR Exception Requests which this year involved one investigator that has not yet moved forward with submission of the exception justification. Lastly, she maintains and updates all the CCR GDS SOPs with the assistance of the GPA-A. The GPA-A serves as lead for logistical, computer, and portal issues. She's been trained and works under GPA's supervision to: complete the initial reviews of GDSP and IC submissions in the portal, provide timely feedback to investigators if modifications are required, and enter dbGaP study registrations and supports investigators in the data sharing process; enter studies into the Genomic Summary Result online system for review by the CCR Sensitivity Review committee; maintains the CCR GDS Wiki page, the online GDS key information source for CCR investigators; and enters data into the portal tracking database enabling rapid response to investigator queries about the status of a given project or any possible report requests. Project Summary: Genomic Data Sharing Infrastructure: Critical to the infrastructure needed to facilitate investigator Genomic Data Sharing (GDS) is the development and maintenance of CCR GDS Portal https://service.cancer.gov/gds/. The GDS Policy mandates prospectively a Genomic Data Sharing Plan (GDSP) and/or an Institutional Certification (IC) be completed based on whether the study involves human or non-human organisms or cell lines. The GDSP documents data type(s), repository for submission, and proposed submission and release timeline. This form is required of human (including human cell lines) model organisms, non-human cell lines, and infectious organisms. The IC documents consent for data sharing, data use limitations and whether Genomic Summary Results (GSR) must be maintained in a controlled access environment based on a sensitivity determination. The portal (version 4) launched this year provides the platform for GDS form creation, review, approval, revision if indicated, and retrieval. Version 4 was required because the existing platform, Jira, was no longer going to be supported by NCI so there was a required transition to Service Now with the transition handled by CBIIT. Portal activities this past year included the rebuild of the portal in Service Now which also addressed the following issues: 1-GDSP's and ICs are linked to a project. 2-Improve portal login issues for the GPA and GPA Admin, which greatly reduced the load time. The GDS Tracking Database moved into the existing GDS portal, though the tracking arm is not visible to end users. The portal is organized by project which can be clinical or animal research protocols or laboratory projects of any organism or cell line. Portal projects and documents are established by the investigator or their designee. Despite multiple tests prior the launch of Version 4 there have been several problems including integrity of data migration from Version 3, completed forms not accurately linked to the project, incorrect status reports on form completion, and inconsistency in notifications to the investigator and GPA/GPA Admin that there are documents that require review and sign off. Unfortunately, given the magnitude of the problems, including problems which were CBIIT reportedly fixed but persist, or new problems arising ultimately resulted in us escalating this to the supervisor Larry Brem. This had some limited impact initially but there remain unresolved problems. The GPA and GPA Admin meet weekly with CBIIT representative Jae Song to resolve ongoing issues. Statistics from 7/3/2021-7/4/2021: During data pulls from the new dashboard, we identified additional issues that still require resolution which impact some of the numbers we can report. For example, when the studies were migrated to the new portal, the date the migration occurred became the data the study was created. In addition, form migration from the old to new portal continues as an issue which also impacts data accuracy. So, while we are reporting data below, we plan perform a full audit of all forms/data elements which will begin in 8/2022. Tracking Portal: 514 studies are in the GDS Tracking portal. 39 GDSP's were reviewed and 37 approved. 31 IC's were reviewed 27 approved. No exception requests were submitted in this reporting period however preliminary discussions with Dr. Aldape about submitting an exception but he has not provided the justification. Since version 4 launched mid 3/1022 there have been 12 projects created with 24 GDSPs and 28 ICs. New Studies: GSR Sensitivity Determinations: 63 studies were reviewed, 27 Sensitive, 36 Not Sensitive. Data Sharing: 465 studies are registered in dbGaP, 408 are minimal registrations, 18 in the past year and 57 full registrations, 5 in the past year. Data was submitted on 40 studies, 8 in the past year. Three new versions of existing studies were submitted this year. Lastly there are 14 closed studies without data submission which are awaiting data submission by the PI. With the move to DMS policy when compliance will be overseen by OIR, we will work with these investigators to data share before OIR oversight starts 1/31/2023.