Innovative genomic technologies for non-invasive cancer screening

Cancer is a leading cause of mortality worldwide and the focus of priority programs and strategies for scientific and technological development in public health and health promotion. Modern screening technologies are aimed at early cancer diagnosis to improve treatment outcomes; however most of them are characterized by invasiveness and low patient compliance. Therefore, non-invasive cancer diagnosis is a promising field in molecular biology and oncology. Advances in molecular genetics and bioinformatics have enabled the identification of a wide range of diagnostic, prognostic, and predictive biomarkers, which can be analyzed not only in tumor tissue samples but also in peripheral blood. the purpose of the study was to analyze and summarize current scientific and practical data in the field of non-invasive cancer screening using molecular biological analysis, development of innovative test systems and diagnostic kits, as well as issues of legal regulation and integration into medical and social insurance programs.

Material and Methods. The study was based on Russian and international scientific databases, including the National Library of Medicine using the PubMed electronic resource, Elibrary, and Google scholar search results. Open internet resources were also searched using the keywords: cancer; malignant neoplasm; tumor; diagnostic; non-invasive; early; blood; Blood-based tests; test system; screening; pancancer; multi-cancer; sequencing; PCR; marker; DNA; cfDNA; multi-cancer early detection; MCED. The analytical review included clinical trial reports, meta-analyses, systematic reviews, and cohort randomized trials for the period 2008–2025.

Results. There is a steady trend worldwide towards the widespread adoption of universal, non-invasive methods for early cancer diagnosis. Retrospective and prospective multicenter studies and meta-analyses conducted over the past 15 years have demonstrated advances in interdisciplinary multimodal analysis of diverse patient data (clinical, genomic, transcriptomic, epigenomic, etc.), emphasizing the cost-effectiveness of these methods.

Conclusion. Currently, large-scale population-based studies considering race and ethnicity are vital for validating methodological approaches and evaluating the effectiveness of non-invasive cancer screening methods, especially in diverse nations like Russia.

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