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Technical Advances in Circulating Cell-Free DNA Detection and Analysis for Personalized Medicine in Patients' Care
Monica Sorbini1, Tullia Carradori1, Gabriele Maria Togliatto2
1Department of Medical Sciences, University of Turin, 10126 Turin, Italy.
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 the recent literature, several challenges remain, represented by a low abundance, a 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 allows us to monitor patients' conditions in an easy and non-invasive way, offering a more personalized care. Nevertheless, cfDNA analysis is still considered a diagnostic marker to be further validated, and very few centers are implementing its analysis in routine diagnostics. As technical improvements are enhancing the performances of cfDNA analysis, its application will transversally improve patients' quality of life.
Insights
Circulating cell-free DNA (cfDNA) offers a revolutionary non-invasive diagnostic tool for oncology, prenatal testing, and organ transplantation. Ongoing technical advancements are overcoming challenges like low abundance, paving the way for broader clinical adoption and personalized patient care.
Area of Science:
- Biomarker Discovery
- Molecular Diagnostics
- Genomic Medicine
Background:
- Circulating cell-free DNA (cfDNA) comprises DNA fragments from cell death in bodily fluids.
- cfDNA analysis has transformed non-invasive diagnostics in oncology, prenatal testing, and organ transplantation.
- Challenges include low cfDNA abundance, assay sensitivity requirements, and analytical complexities.
Purpose of the Study:
- To review technical advances in cfDNA analysis methodologies.
- To examine current cfDNA applications across various diagnostic fields.
- To discuss the growing clinical consensus and future potential of cfDNA.
Main Methods:
- Comprehensive literature review of cfDNA analysis techniques.
- Examination of methodologies applied in oncology, prenatal testing, and transplantation.
- Discussion of analytical challenges and technical improvements.
Main Results:
- cfDNA analysis enables non-invasive monitoring and personalized patient care.
- Significant progress has been made in cfDNA detection and quantification technologies.
- Despite challenges, cfDNA is gaining clinical acceptance.
Conclusions:
- cfDNA analysis holds immense promise for improving patient outcomes through non-invasive monitoring.
- Further validation is needed for routine diagnostic implementation.
- Continued technical advancements will expand cfDNA applications and enhance patient quality of life.
