Accelerating the Development and Validation of Liquid Biopsy for Early Cancer Screening and Treatment Tailoring DOI Open Access

Denis Horgan,

Tanja Čufer, Francesco Gatto

et al.

Healthcare, Journal Year: 2022, Volume and Issue: 10(9), P. 1714 - 1714

Published: Sept. 7, 2022

Liquid biopsy (LB) is a minimally invasive method which aims to detect circulating tumor-derived components in body fluids. It provides an alternative current cancer screening methods that use tissue biopsies for the confirmation of diagnosis. This paper attempts determine how far regulatory, policy, and governance framework provide support LB implementation into healthcare systems situation can be improved. For reason, European Alliance Personalised Medicine (EAPM) organized series expert panels including different key stakeholders identify steps, challenges, opportunities need taken effectively implement technology at country level across Europe. To accomplish change patient care with approach, it required establish collaboration between multiple stakeholders, payers, policymakers, medical scientific community, organizations, both national international level. Regulators, pharma companies, payers could have major impact their own domain. Linking efforts EU vice versa help Europe, while patients, scientists, physicians, kit manufacturers generate pull by undertaking more research biomarkers.

Language: Английский

Circulating tumor nucleic acids: biology, release mechanisms, and clinical relevance DOI Creative Commons
Pavel Stejskal, Hani Goodarzi, Josef Srovnal

et al.

Molecular Cancer, Journal Year: 2023, Volume and Issue: 22(1)

Published: Jan. 21, 2023

Despite advances in early detection and therapies, cancer is still one of the most common causes death worldwide. Since each tumor unique, there a need to implement personalized care develop robust tools for monitoring treatment response assess drug efficacy prevent disease relapse.

Language: Английский

Citations

132
Practical recommendations for using ctDNA in clinical decision making DOI
Stacey A. Cohen, Minetta C. Liu, Alexey Aleshin

et al.

Nature, Journal Year: 2023, Volume and Issue: 619(7969), P. 259 - 268

Published: July 12, 2023

Language: Английский

Citations

84
Bridging biological cfDNA features and machine learning approaches DOI Creative Commons
Tina Moser, Stefan Kühberger, Isaac Lazzeri

et al.

Trends in Genetics, Journal Year: 2023, Volume and Issue: 39(4), P. 285 - 307

Published: Feb. 13, 2023

Liquid biopsies (LBs), particularly using circulating tumor DNA (ctDNA), are expected to revolutionize precision oncology and blood-based cancer screening. Recent technological improvements, in combination with the ever-growing understanding of cell-free (cfDNA) biology, enabling detection tumor-specific changes extremely high resolution new analysis concepts beyond genetic alterations, including methylomics, fragmentomics, nucleosomics. The interrogation a large number markers complexity data render traditional correlation methods insufficient. In this regard, machine learning (ML) algorithms increasingly being used decipher disease- tissue-specific signals from cfDNA. Here, we review recent insights into biological ctDNA features how these incorporated sophisticated ML applications.

Language: Английский

Citations

67
Cell type signatures in cell-free DNA fragmentation profiles reveal disease biology DOI Creative Commons
Kate E. Stanley, Tatjana Jatsenko, Stefania Tuveri

et al.

Nature Communications, Journal Year: 2024, Volume and Issue: 15(1)

Published: March 12, 2024

Abstract Circulating cell-free DNA (cfDNA) fragments have characteristics that are specific to the cell types release them. Current methods for cfDNA deconvolution typically use disease tailored marker selection in a limited number of bulk tissues or lines. Here, we utilize single transcriptome data as comprehensive cellular reference set disease-agnostic cell-of-origin analysis. We correlate cfDNA-inferred nucleosome spacing with gene expression rank relative contribution over 490 plasma cfDNA. In 744 healthy individuals and patients, uncover type signatures support emerging paradigms oncology prenatal care. train predictive models can differentiate patients colorectal cancer (84.7%), early-stage breast (90.1%), multiple myeloma (AUC 95.0%), preeclampsia (88.3%) from matched controls. Importantly, our approach performs well ultra-low coverage datasets be readily transferred diverse clinical settings expansion liquid biopsy.

Language: Английский

Citations

27
Recommendations for the Equitable and Widespread Implementation of Liquid Biopsy for Cancer Care DOI Creative Commons
Phillip G. Febbo, Mina Alsaraf Allo,

Emma B. Alme

et al.

JCO Precision Oncology, Journal Year: 2024, Volume and Issue: 8

Published: Jan. 2, 2024

Liquid biopsies—tests that detect circulating tumor cellular components in the bloodstream—have potential to transform cancer by reducing health inequities screening, diagnostics, and monitoring. Today, liquid biopsies are being used guide treatment choices for patients monitor recurrence, promising work multi-cancer early detection is ongoing. However, without awareness of barriers adoption this new technology a willingness build mitigation efforts into implementation widespread biopsy testing, communities could most benefit may be last access use them. In work, we review challenges likely affect accessibility both general population underserved populations, recommend specific actions facilitate equitable all patients.

Language: Английский

Citations

26
Use of ctDNA in early breast cancer: analytical validity and clinical potential DOI Creative Commons
François Panet, Andri Papakonstantinou, María Borrell

et al.

npj Breast Cancer, Journal Year: 2024, Volume and Issue: 10(1)

Published: June 19, 2024

Abstract Circulating free tumor DNA (ctDNA) analysis is gaining popularity in precision oncology, particularly metastatic breast cancer, as it provides non-invasive, real-time information to complement tissue biopsies, allowing for tailored treatment strategies and improved patient selection clinical trials. Its use early cancer has been limited so far, due the relatively low sensitivity of available techniques a setting characterized by lower levels ctDNA shedding. However, advances sequencing bioinformatics, well methylome profiles, have led an increasing interest application from screening curative evaluation minimal residual disease (MRD) detection. With multiple prospective trials this setting, may become useful practice. This article reviews data regarding analytical validity currently tests detection potential cancer.

Language: Английский

Citations

19
Tumor Fraction Correlates With Detection of Actionable Variants Across > 23,000 Circulating Tumor DNA Samples DOI
Hatim Husain, Dean C. Pavlick,

Bernard J. Fendler

et al.

JCO Precision Oncology, Journal Year: 2022, Volume and Issue: 6

Published: Oct. 20, 2022

Profiling of circulating tumor DNA (ctDNA) is increasingly adopted in the management solid tumors, concurrent with increased availability more comprehensive ctDNA panels. However, variable shed can result assay sensitivity. We studied relationship between fraction (TF) and detection actionable alterations across cancer types.A total 23,482 liquid biopsies (LBx) submitted September 2020 October 2021 were sequenced using a hybrid capture panel that reports genomic (GAs) biomarkers 324 cancer-related genes. The primary end points prevalence targetable GAs by type to TF. Sensitivity LBx was assessed 1,289 patients available tissue results.94% (n = 22,130) had detectable ctDNA, median TF 2.2%. profiling detected National Comprehensive Cancer Network category 1 genes 37% lung, 30% prostate, 36% breast, 51% colon cases. Potential germline flagged on clinical including BRCA1/2, PALB2, CHEK2, ATM. Polyclonal mutations associated resistance such as AR, ESR1, RB1, NF1 detected. sensitivity detect driver identified biopsy from same patient ranged 58% 86% but consistently at or near 100% cases ≥ 10%.Elevated both high negative predictive value for GAs. presence elevated suggests adequate may reduce subsequent reflex confirmatory testing results.

Language: Английский

Citations

66
Circulating Tumor DNA—A Novel Biomarker of Tumor Progression and Its Favorable Detection Techniques DOI Open Access
Xiaosha Wen, Huijie Pu, Quan Liu

et al.

Cancers, Journal Year: 2022, Volume and Issue: 14(24), P. 6025 - 6025

Published: Dec. 7, 2022

Cancer is the second leading cause of death in world and seriously affects quality life patients. The diagnostic techniques for tumors mainly include tumor biomarker detection, instrumental examination, tissue biopsy. In recent years, liquid technology represented by circulating DNA (ctDNA) has gradually replaced traditional with its advantages being non-invasive accurate, high specificity, sensitivity. ctDNA may carry throughout circulatory system through cell necrosis, apoptosis, exosome secretion, etc., carrying characteristic changes tumors, such as mutation, methylation, microsatellite instability, gene rearrangement, etc. this paper, mutation objects to describe preparation process before analysis, detection methods two gene-level changes, including a series enrichment derived from PCR, sequencing-based techniques, comprehensive are combined new materials. addition, role various stages cancer development summarized, early screening, diagnosis, molecular typing, prognosis prediction, recurrence monitoring, drug guidance. summary, an ideal involved whole development.

Language: Английский

Citations

40
Diagnostic value of liquid biopsy in the era of precision medicine: 10 years of clinical evidence in cancer DOI Creative Commons
Vincenza Caputo, Fortunato Ciardiello, Carminia M. Della Corte

et al.

Exploration of Targeted Anti-tumor Therapy, Journal Year: 2023, Volume and Issue: unknown, P. 102 - 138

Published: Feb. 28, 2023

Liquid biopsy is a diagnostic repeatable test, which in last years has emerged as powerful tool for profiling cancer genomes real-time with minimal invasiveness and tailoring oncological decision-making. It analyzes different blood-circulating biomarkers circulating tumor DNA (ctDNA) the preferred one. Nevertheless, tissue remains gold standard molecular evaluation of solid tumors whereas liquid complementary many clinical settings, such treatment selection, monitoring response, clonal evolution, prognostic evaluation, well detection early disease residual (MRD). A wide number technologies have been developed aim increasing their sensitivity specificity acceptable costs. Moreover, several preclinical studies conducted to better understand utility. Anyway, issues are still limitation its use false positive negative results, results interpretation, standardization panel tests. Although there rapid development research these fields recent advances setting, trials needed make an instrument routine. This review provides overview current future applications opening questions particular attention ctDNA biopsy.

Language: Английский

Citations

39
Real-Time Nanopore Q20+ Sequencing Enables Extremely Fast and Accurate Core Genome MLST Typing and Democratizes Access to High-Resolution Bacterial Pathogen Surveillance DOI Creative Commons
Gabriel E. Wagner, Johanna Dabernig‐Heinz,

Michaela Lipp

et al.

Journal of Clinical Microbiology, Journal Year: 2023, Volume and Issue: 61(4)

Published: March 29, 2023

Next-generation whole-genome sequencing is essential for high-resolution surveillance of bacterial pathogens, example, during outbreak investigations or source tracking and escape variant analysis. However, current global bioinformatic bottlenecks a long time to result with standard technologies demand new approaches.

Language: Английский

Citations

33