Building evidence and measuring clinical outcomes for genomic medicine

Josh F Peterson; Dan M Roden; Lori A Orlando; Andrea H Ramirez; George A Mensah; Marc S Williams

doi:10.1016/S0140-6736(19)31278-4

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.

Authors

Josh F Peterson¹, Dan M Roden², Lori A Orlando³, Andrea H Ramirez⁴, George A Mensah⁵, Marc S Williams⁶

Affiliations

¹ Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address: josh.peterson@vumc.org.
² Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.
³ Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, NC, USA.
⁴ Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
⁵ Center for Translation Research and Implementation Science, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
⁶ Genomic Medicine Institute, Geisinger, Danville, PA, USA.

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.

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

Abstract

Publication types

MeSH terms

Grants and funding