Lincoln D. Nadauld

Summary Multicancer early detection (MCED) blood tests can detect a cancer signal from circulating cell-free DNA (cfDNA). PATHFINDER was a prospective cohort study investigating the feasibility of MCED testing for cancer screening. In this prospective cohort study done in oncology and primary care outpatient clinics at seven US health networks, a convenience sample of adults aged 50 years or older without signs or symptoms of cancer consented to MCED testing.

The appropriate use of genomic tests (whole-genome, exome, or multigene tumor profiling acquired through a sequencing platform) in clinical oncology largely depends on an evidence-based assessment of all the benefits and risks that accrue from test results, commonly known as clinical utility.1 In the currently evolving context of personalized medicine, the capacity of genomic testing is expanding to deliver greater benefits for patients and health systems.

Genomic rearrangements are alterations of large genomic segments, sometimes spanning megabases. Rearrangements are composed of structural variants (SVs), of which there are several classes, including large insertions, large deletions, inversions, duplications, and translocations. Germline SVs are a significant source of variation among normal genomes [1] while somatic SVs are widely observed among many different cancers [2, 3].