It is preferred that study sites have at least 3,000 patients with electronic medical records as well as completed genotyping data for these patients using platforms with at least 550,000 SNPs, and biorepository samples for advanced genetic technologies. Such sample sizes are generally needed to ensure adequate study power and, in general, large sample sizes will be viewed more favorably. There may be situations, however, in which smaller sample sizes could present other compelling benefits. Applicants proposing smaller samples should provide clear justification of the other advantages presented by their sample(s) with sizes smaller than those outlined in the RFA.
The RFA will not provide funding for genome-wide genotyping. Investigators must demonstrate access to existing genome-wide genotyping data with appropriate platforms as described above, and data submitted to dbGaP as described below, to be considered for award.
It is preferable that genome-wide association studies (GWAS) be completed and that the data be submitted to the database of Genotypes and Phenotypes (dbGaP), National Center for Biotechnology Information (NCBI) at the time the application is submitted. Although, the application will be considered responsive if it demonstrates that the GWAS, including genome-wide genotyping of at least 550,000 SNPs, data cleaning for quality control, and genome-wide association analyses, will be completed and the data are submitted to dbGaP at the time of funding (July 1, 2011).
Yes, studying varying phenotypes is encouraged and any phenotypes that can be identified through electronic medical records (EMRs) are acceptable. However, applicants need to demonstrate that there is adequate statistical power to detect genome-wide associations for each phenotype.
Consent for general research use is desirable, but consents limited to the disease areas in which they were consented originally will also be considered. Applicants should also address the potential need and procedures for re-consent for returning incidental genetic findings.
Rongling Li, M.D., Ph.D.
Phone: (301) 594-6524
Last Updated: January 2, 2011