Building evidence and measuring clinical outcomes for genomic medicine

Lancet. 2019 Aug 17;394(10198):604-610. doi: 10.1016/S0140-6736(19)31278-4. Epub 2019 Aug 5.


Human genomic sequencing has potential diagnostic, prognostic, and therapeutic value across a wide breadth of clinical disciplines. One barrier to widespread adoption is the paucity of evidence for improved outcomes in patients who do not already have an indication for more focused testing. In this Series paper, we review clinical outcome studies in genomic medicine and discuss the important features and key challenges to building evidence for next generation sequencing in the context of routine patient care.

Publication types

  • Review

MeSH terms

  • Diagnostic Tests, Routine
  • Genome, Human
  • Genomics / methods*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Patient Outcome Assessment
  • Precision Medicine / methods*
  • Standard of Care