Biobanks and personalized medicine

Clin Genet. 2014 Jul;86(1):50-5. doi: 10.1111/cge.12370. Epub 2014 Mar 27.


We provide a mini-review of how biobanks can support clinical genetics in the era of personalized medicine. We discuss types of biobanks, including disease specific and general biobanks not focused on one disease. We present considerations in setting up a biobank, including consenting and governance, biospecimens, risk factor and related data, informatics, and linkage to electronic health records for phenotyping. We also discuss the uses of biobanks and ongoing considerations, including genotype-driven recruitment, investigations of gene-environment associations, and the re-use of data generated from studies. Finally, we present a brief discussion of some of the unresolved issues, such as return of research results and sustaining biobanks over time. In summary, carefully designed biobanks can provide critical research and infrastructure support for clinical genetics in the era of personalized medicine.

Keywords: biobanking; biobanks; biorepository; personalized medicine.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biological Specimen Banks / organization & administration*
  • Biological Specimen Banks / trends*
  • Computational Biology / methods*
  • Databases, Genetic / trends*
  • Genetics, Medical / methods*
  • Genetics, Medical / trends
  • Genotype
  • Humans
  • Precision Medicine / methods*
  • Precision Medicine / trends