Challenges of translating genetic tests into clinical and public health practice

Nat Rev Genet. 2009 Jul;10(7):489-95. doi: 10.1038/nrg2606.


Research in genetics and genomics has led to an expanding list of molecular genetic tests, which are increasingly entering health care systems. However, the evidence surrounding the benefits and harms of these tests is frequently weak. Here we present the main challenges to the successful translation of new research findings about genotype-phenotype associations into clinical practice. We discuss the means to achieve an accelerated translation research agenda that is conducted in a reasonable, fair and efficient manner.

Publication types

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

MeSH terms

  • Delivery of Health Care / economics
  • Delivery of Health Care / trends*
  • Genetics, Medical / economics
  • Genetics, Medical / methods
  • Genetics, Medical / trends*
  • Genomics / economics
  • Genomics / methods
  • Genomics / trends*
  • Genotype
  • Humans