Frequently Asked Questions About RFA-HG-06-032

Frequently Asked Questions About RFA-HG-06-032

Genome-Wide Association Studies in the Genes and Environment Initiative Coordinating Center

November 15, 2006

• What are the differences between the roles of National Center for Biotechnology Information (NCBI)
  and the Coordinating Center?
• How will data be stored at NCBI?
• How will NCBI share study data with investigators?
• What is the Coordinating Center's role in data analysis, as distinguished from the Study Investigator's role?

What are the differences between the roles of the National Center for Biotechnology Information (NCBI) and the Coordinating Center?

NCBI will receive, link, store and distribute individual-level data for study subjects provided by Study Investigators and the genotypes produced by the genotyping facilities. NCBI will provide the study genotype-phenotype dataset to Study Investigators and all others whose requests are approved by the Data Access Committee. NCBI will also perform basic genotype-phenotype correlations, the results of which will be provided through NCBI's Web site.

Study Investigators and the Coordinating Center will be responsible for conducting statistical analyses for individual studies and across studies, respectively. (See: What is the Coordinating Center's role ...). If appropriate, the Coordinating Center will send updated or newly created data (e.g., new variables created as part of a data harmonization effort) to NCBI.

How will data be stored at NCBI?

The current plan is that genotype-phenotype database will be stored as a relational database, with data stored in square tables. Information about each variable will be linked to the documentation provided by the Study Investigator using XML tagging.

How will NCBI share study data with investigators?

The current plan is for NCBI to send to Study Investigators, and all others whose requests are approved by the Data Access Committee, the requested GEI study dataset. There is no current plan to provide access to the data through NCBI's Web site or at NCBI. Thus, investigators will not be able to conduct analyses without obtaining a copy of the requested dataset.

NCBI will perform basic genotype-phenotype correlations, the results of which will be provided through NCBI's Web site.

The National Institutes of Health (NIH) has issued a Request for Information (RFI) related to data-sharing for genome-wide association studies: Proposed Policy for Sharing of Data obtained in NIH supported or conducted Genome-Wide Association Studies (GWAS) [grants.nih.gov].

The deadline for comments has been extended to November 30, 2006: Extended Comment Period for the Proposed Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS) [grants.nih.gov].

The policy will be finalized prior to the initiation of GEI-GWA studies. Final GEI data-sharing policies will be consistent with NIH-wide data-sharing policies or guidelines for genome-wide association studies.

What is the Coordinating Center's role in data analysis, as distinguished from the Study Investigator's role?

Study Investigators will have primary responsibility for analyzing genotype and phenotype data from their own study, but may request assistance from the coordinating center if desired. The coordinating center will be responsible for cross-study functions, such as harmonizing data across studies and leading any cross-study analyses in collaboration with the Study Investigators and NIH staff. The coordinating center may provide support to study investigators for analyses if desired and as funding permits.

As described in the RFAs, applications for both the Coordinating Center - Genome-wide Association Studies in the Genes and Environment Initiative - Coordinating Center [grants.nih.gov] - and for the study investigators - Genome-wide Association Studies in the Genes and Environment Initiative - Study Investigators [grants.nih.gov] - will be evaluated for the quality of their data analysis plans and expertise, recognizing their respective roles (leadership, supporting, individual study, cross-study, etc).