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A multi-cancer early detection blood test using machine learning detects early-stage cancers lacking USPSTF-recommended screening

Janet L. Vittone, David Gill, Alex Goldsmith, Eric A. Klein, Jordan J. Karlitz

2024npj Precision Oncology31 citationsDOIOpen Access PDF

Abstract

US Preventive Services Task Force (USPSTF) guidelines recommend single-cancer screening for select cancers (e.g., breast, cervical, colorectal, lung). Advances in genome sequencing and machine learning have facilitated the development of blood-based multi-cancer early detection (MCED) tests intended to complement single-cancer screening. MCED tests can interrogate circulating cell-free DNA to detect a shared cancer signal across multiple tumor types. We report real-world experience with an MCED test that detected cancer signals in three individuals subsequently diagnosed with cancers of the ovary, kidney, and head/neck that lack USPSTF-recommended screening. These cases illustrate the potential of MCED tests to detect early-stage cancers amenable to cure.

Topics & Concepts

MedicineCancerCancer screeningStage (stratigraphy)Internal medicineCervical cancerOncologyBiologyPaleontologyCancer Genomics and DiagnosticsGenetic factors in colorectal cancerBRCA gene mutations in cancer
A multi-cancer early detection blood test using machine learning detects early-stage cancers lacking USPSTF-recommended screening | Litcius