Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Technical Advances in Circulating Cell-Free DNA Detection and Analysis for More Personalized Medicine in Patients’ Care

Version 1 : Received: 25 March 2024 / Approved: 26 March 2024 / Online: 26 March 2024 (06:40:21 CET)

A peer-reviewed article of this Preprint also exists.

Sorbini, M.; Carradori, T.; Togliatto, G.M.; Vaisitti, T.; Deaglio, S. Technical Advances in Circulating Cell-Free DNA Detection and Analysis for Personalized Medicine in Patients’ Care. Biomolecules 2024, 14, 498. Sorbini, M.; Carradori, T.; Togliatto, G.M.; Vaisitti, T.; Deaglio, S. Technical Advances in Circulating Cell-Free DNA Detection and Analysis for Personalized Medicine in Patients’ Care. Biomolecules 2024, 14, 498.

Abstract

Circulating cell-free DNA (cfDNA) refers to small fragments of DNA molecules released after programmed cell death and necrosis in several body fluids such as blood, saliva, urine, and cerebrospinal fluid. The discovery of cfDNA has revolutionized the field of non-invasive diagnostics in the oncologic field, in prenatal testing, and in organ transplantation. Despite the potential of cfDNA and the solid results published in recent literature, several challenges remain, represented by low abundance, need for highly sensitive assays and analytical issues. In this review, the main technical advances in cfDNA analysis are presented and discussed, with a comprehensive examination of the current available methodologies applied in each field. Considering the potential advantages of cfDNA, this biomarker is increasing its consensus among clinicians, as it consents to monitor patients’ conditions in an easy and non-invasive way, offering a more personalized care. Nevertheless, cfDNA analysis is still considered a research marker to be further validated, and very few centers are implementing its analysis in the real-life assistance. As technical improvements are enhancing the performances of cfDNA analysis, its application will transversally improve patients’ quality of life.

Keywords

cell-free DNA; Next-generation Sequencing; digital PCR; liquid biopsy; non-invasive diagnostics

Subject

Biology and Life Sciences, Biochemistry and Molecular Biology

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