Careful definition of an at-risk population is critical to avoid unnecessary testing, procedures, treatments, and their concomitant costs. Unsurprisingly, even superb early detection diagnostics may fail in low-prevalence populations where almost no one has disease to be detected. The value of the expected therapeutic impact is similarly critical for patients, physicians, and payers alike—there is little value in the early detection of a benign process or a process in which no intervention is available. Lastly, the diagnostic performance required must be weighed against any existing technologies.
The presentation will use these concepts to describe how recent advances in non-invasive DNA sequencing technology driven by the sequencing of advanced cancer patients are enabling early detection in at-risk populations, and how current efforts may translate into improved patient survival.