TOPMed Genomic Summary Results
Genomic Summary Results (GSR) are defined by the National Institutes of Health Office of Science Policy as “the output of analyses of genomic data across the many individuals included within a specific study’s dataset.” Association analysis statistics and allele frequency information are two common types of GSR, though GSR may encompass other metrics or summary data calculated from individual-level data.
Individual-level genomic and phenotypic data are typically available through controlled-access. In contrast, access controls for GSR have varied over time (see NOT-OD-19-023 for a historical overview) and can also vary by study. Specifically, GSR are made available through controlled access when a study designates as “sensitive,” a designation that may be motivated by the study of potentially stigmatizing conditions or identifiable or vulnerable study populations. GSR from studies not designated as sensitive can be made publicly available.
The TOPMed program comprises over 80 studies, including many designated as “sensitive” for the purposes of GSR sharing. To accommodate this heterogeneity of study designations while promoting broad access and use of TOPMed GSR by the scientific community, the TOPMed DCC collaborated with the NHLBI Data Access Committee, NHLBI TOPMed program staff, the University of Washington IRB, and TOPMed study PIs to establish a dbGaP accession for the controlled-access sharing of TOPMed GSR: phs001974, “NHLBI TOPMed: Genomic Summary Results for the Trans-Omics for Precision Medicine Program.”
GSR from TOPMed manuscripts and other Working Group analyses may be posted to this accession and made accessible, via controlled access and a General Research Use (GRU) consent designation, to applicants via the normative dbGaP application process.
To apply for access to the TOPMed GSR in phs001974, investigators should follow dbGaP instructions to initiate a project request and submit a Data Access Request (DAR) for phs001974. Investigators with an active dbGaP project may request phs001974 as an additional DAR. Requests for access to phs001974 will be reviewed by the NHLBI Data Access Committee. Please note that an applicants’ proposed Research Use Statement will be evaluated against a GRU consent designation.
NIH, NOT-OD-19-023: “Update to NIH Management of Genomic Summary Results Access” https://grants.nih.gov/grants/guide/notice-files/NOT-OD-19-023.html, November 01, 2018.
NIH, Genomic Data Sharing, https://osp.od.nih.gov/scientific-sharing/genomic-data-sharing/