Genome-Wide Association Studies (GWAS)

Genome-Wide Association Studies (GWAS)

The NIH defines Genome-Wide Association Studies (GWAS) as "any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition." Under the NIH Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS) (http://grants.nih.gov/grants/guide/notice-files/NOT-OD-07-088.html), institutions must certify that plans for the submission of genotype and phenotype data from GWAS to the NIH meet the expectations of the policy.

In order for the institution to certify the plan, the PI should create a data sharing plan and provide a copy to the IRB for review. In addition, the consent form should include the appropriate GWAS language. See the sample consent form for an example of this language. The data sharing plan is expected to describe how the expectations of the policy will be met. Once the IRB reviews and approves the data sharing plan, UAB's Institutional Official, Dr. Marchase, will sign a GWAS Data Submission Certification. Please see the NIH GWAS web site at www.grants.nih.gov/grants/gwas for further guidance about such studies.

The data sharing plan should include:

What data will be shared?
  • Describe the data elements (e.g., genotype, phenotype, outcomes, traits, other variables)
  • Describe the study populations (e.g., all study participants or only those that gave consent for data sharing)
  • Describe the study documents (e.g., study protocol, manual of operations, questionnaires, data abstraction forms) The minimum expectation by NIH is the data generated and used for the funded analyses and documentation sufficient for interpretation of the data.
Whose data will be shared?
  • Data from all study participants included in the analyses?
  • Subset? Provide rationale: (e.g., participants who did not give consent for sharing data will be excluded)
When will the data be shared?
  • Timeline for data-sharing
  • After the data have been cleaned? Expected timeline for cleaning to be complete? (e.g. 2 months after genotyping is finished, month 12 of the proposed study timeline)
  • Incrementally? (e.g., Baseline clinical data and the genomic data before experimental clinical experiments are completed?)
Will there be restrictions on use limitations for the shared data?
  • Is use limited by the informed consent to studies of specific conditions or traits (e.g., hypertension, diabetes, cancer)
  • Certain types of uses (e.g., non-commercial use only) or users (e.g, qualified investigator)
  • Is additional consent needed for data sharing? Is additional consent possible? (e.g., due to the age or the data/specimens)?
  • Could the sharing of the data be harmful to individuals or groups?
Is there a plan to release the data to qualified researchers who wish to collaborate with the investigators?
  • How will the availability of the data be advertised?
  • How will the data be made available?
    • Through a secure site?
    • Maintained by whom?
    • Sent on encrypted physical media via trackable mail?

Page updated: May 8, 2013