DNA banking for epidemiologic studies: a review of current practices

Epidemiology. 2002 May;13(3):246-54. doi: 10.1097/00001648-200205000-00003.


To study genetic risk factors for common diseases, researchers have begun collecting DNA specimens in large epidemiologic studies and surveys. However, little information is available to guide researchers in selecting the most appropriate specimens. In an effort to gather the best information for the selection of specimens for these studies, we convened a meeting of scientists engaged in DNA banking for large epidemiologic studies. In this discussion, we review the information presented at that meeting in the context of recent published information. Factors to be considered in choosing the appropriate specimens for epidemiologic studies include quality and quantity of DNA, convenience of collection and storage, cost, and ability to accommodate future needs for genotyping. We focus on four types of specimens that are stored in these banks: (1) whole blood preserved as dried blood spots; (2) whole blood from which genomic DNA is isolated, (3) immortalized lymphocytes from whole blood or separated lymphocytes, prepared immediately or subsequent to cryopreservation; and (4) buccal epithelial cells. Each of the specimens discussed is useful for epidemiologic studies according to specific needs, which we enumerate in our conclusions.

MeSH terms

  • Biological Specimen Banks / standards*
  • Cheek
  • Cryopreservation
  • DNA / blood*
  • DNA / isolation & purification*
  • Epidemiologic Studies
  • Genotype
  • Humans
  • Lymphocytes / blood*
  • Mouth Mucosa / cytology*
  • Quality Control
  • Specimen Handling / methods*


  • DNA