Building the Evidence Base for Genomic Medicine in Routine Clinical Care
This Lancet Series paper reviews the current state of clinical outcome evidence for genomic medicine and identifies the key barrier to broader adoption: insufficient proof of improved outcomes in patients without an existing indication for targeted testing. The authors discuss important features and challenges of designing clinical outcome studies for NGS in routine care settings. Their framework addresses how to build the evidence needed to move genomic sequencing from specialised indications to population-level implementation.
The original study
Building evidence and measuring clinical outcomes for genomic medicine.
- Authors
- Peterson JF, Roden DM, Orlando LA, Ramirez AH, Mensah GA, Williams MS
- Journal
- Lancet (London, England)
- Type
- Journal Article, Review
- PMID
- 31395443
Original abstract
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.