Next-generation sequencing impact on cancer care: applications, challenges, and future directions

Frontiers in Genetics, Journal Year: 2024, Volume and Issue: 15

Published: July 9, 2024

Fundamentally precision oncology illustrates the path in which molecular profiling of tumors can illuminate their biological behavior, diversity, and likely outcomes by identifying distinct genetic mutations, protein levels, other biomarkers that underpin cancer progression. Next-generation sequencing became an indispensable diagnostic tool for diagnosis treatment guidance current clinical practice. Nowadays, tissue analysis benefits from further support through methods like comprehensive genomic liquid biopsies. However, medicine field presents specific hurdles, such as cost-benefit balance widespread accessibility, particularly countries with low- middle-income. A key issue is how to effectively extend next-generation all patients, thus empowering decision-making. Concerns also quality preservation samples, well evaluation health technologies. Moreover, technology advances, novel assessments are being developed, including study Fragmentomics. Therefore, our objective was delineate primary uses sequencing, discussing its’ applications, limitations, prospective paths forward Oncology.

Language: Английский

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comprehensive genomic profiling: a public health system perspective

Expert Review of Molecular Diagnostics, Journal Year: 2025, Volume and Issue: unknown, P. 1 - 9

Published: March 1, 2025

Introduction Comprehensive genomic profiling (CGP) is gaining ground in modern precision oncology for its ability to potentially analyze multiple tumor alterations and identify actionable ones, guiding targeted anticancer treatments. However, integrating CGP into healthcare systems demands consideration of the available evidence collaboration between shareholders.

Language: Английский

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Pan-Cancer Molecular Biomarkers: Practical Considerations for the Surgical Pathologist

Modern Pathology, Journal Year: 2025, Volume and Issue: unknown, P. 100752 - 100752

Published: March 1, 2025

Language: Английский

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Development and user testing of gene pilot: an electronic health decision support tool for Black cancer patients about tumor genomic profile testing

Frontiers in Communication, Journal Year: 2025, Volume and Issue: 10

Published: April 4, 2025

Introduction Tumor genomic profiling (TGP) is used to optimize cancer treatment but underutilized by Black patients, despite having disproportionately higher morbidity and mortality. No interventions using electronic health decision support tools (eHealth DSTs) have been developed assist patients with understanding this test or address barriers uptake communicating preferences a doctor. Methods Using the Ottawa Decision Support Framework, we systematically Gene Pilot eHealth DST patients. We conducted qualitative focus groups (five groups, N = 33) surveys ( 121), elicited community advisory board feedback 10) devise content communication strategies, then user testing 10). Content was informed commercial marketing techniques - segmentation, perceptual mapping, vector message modeling – elucidate how medical mistrust an important construct in Pilot. Results User (1–7 scale) indicated highly accepted, including ease of use (M 6.67, SD 0.50), that it addressed such as genetic literacy (6.63, 0.52), allowed prepare for 6.44, 0.73) communicate their doctor 6.33, 0.73). Suggestions improved navigability were addressed. Conclusion Overall, found be acceptable, suggesting its readiness efficacy testing.

Language: Английский

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Epigenomic insights and computational advances in hematologic malignancies

Molecular Cytogenetics, Journal Year: 2025, Volume and Issue: 18(1)

Published: April 12, 2025

Hematologic malignancies (HMs) encompass a diverse spectrum of cancers originating from the blood, bone marrow, and lymphatic systems, with myeloid representing significant complex subset. This review provides focused analysis their classification, prevalence, incidence, highlighting persistent challenges posed by intricate genetic epigenetic landscapes in clinical diagnostics therapeutics. The basis malignancies, including chromosomal translocations, somatic mutations, copy number variations, is examined detail, alongside modifications specific emphasis on DNA methylation. We explore dynamic interplay between factors, demonstrating how these mechanisms collectively shape disease progression, therapeutic resistance, outcomes. Advances diagnostic modalities, particularly those integrating epigenomic insights, are revolutionizing precision diagnosis HMs. Key approaches such as nano-based contrast agents, optical imaging, flow cytometry, circulating tumor analysis, mutation testing discussed, particular attention to transformative role machine learning data analysis. methylation episignatures have emerged pivotal tool, enabling development highly sensitive prognostic assays that now being adopted practice. also impact computational advancements integration refining strategies. By combining genomic profiling techniques, innovations accelerating biomarker discovery translation, applications oncology becoming increasingly evident. Comprehensive datasets, coupled artificial intelligence, driving actionable insights into biology facilitating optimization patient management Finally, this emphasizes translational potential advancements, focusing tangible benefits for care synthesizing current knowledge recent innovations, we underscore critical medicine research transforming treatment setting stage ongoing broader implementation.

Language: Английский

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Analytical Validation and Clinical Sensitivity of the Belay Summit assay for the detection of DNA variants in cerebrospinal fluid of primary and metastatic CNS cancer

Journal of Molecular Diagnostics, Journal Year: 2025, Volume and Issue: unknown

Published: April 1, 2025

In contrast to most solid tumors, cancers of the central nervous system (CNS) pose a unique challenge for effective detection and tracking via plasma due blood brain barrier (BBB). Informed diagnosis primary metastatic CNS tumors can be facilitated using liquid biopsy assay that evaluates tumor derived DNA (tDNA) from cerebrospinal fluid (CSF) potentially increasing efficacy reducing uncertainty morbidities associated with current standard care involves neurosurgical procedures. The Belay Summit tDNA based genomic profiling CSF inform tumors. analytical sensitivity single/multi nucleotide variants indels is 96% at 95% limit 0.30% variant allele fraction (VAF). Analytical chromosomal arm level aneuploidy 91% abs(log2r) 0.09 detection. Clinical across cohort 124 specimens including was demonstrated 90% specificity 95%, supporting potential positive clinical utility. These results demonstrate accurately reproducibly used CSF.

Language: Английский

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Predictors of successful molecularly targeted therapy based on comprehensive genomic profiling data

Science and Innovations in Medicine, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 12, 2025

Aim:To identify predictors of successful comprehensive genomic profiling (CGP) and the application molecularly targeted therapy in patients with advanced solid tumors. Material Methods:A retrospective single-center study was conducted on data from 104 who underwent CGP using sequencing 2019 to 2023. The ESCAT classification used assess clinical significance identified alterations. analyzed mutation spectrum, effectiveness therapy, its impact survival. Logistic regression methods were applied for statistical analysis. Results:CGP successfully performed 87 (83.7%). Potentially targetable alterations detected 44.8% patients, 11 individuals receiving therapy. Key included sufficient tumor tissue volume minimization resampling. Patients demonstrated improved survival metrics, although no statistically significant differences observed (p=0.097). Extraordinary responses noted 3 patients. Conclusion:The findings highlight relevance personalized oncology treatment. emphasize need careful patient selection enhance efficiency accessibility implementation therapies improve treatment outcomes.

Language: Английский

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Personalized Assessment for Cancer Prevention, Detection, and Treatment

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(15), P. 8140 - 8140

Published: July 26, 2024

The intention of this Special Issue is to highlight research that aims recognize cancer’s complexity better prevent or treat its occurrence [...]

Language: Английский

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Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling

Journal of Personalized Medicine, Journal Year: 2024, Volume and Issue: 14(9), P. 975 - 975

Published: Sept. 14, 2024

Background: Comprehensive genomic profiling (CGP) identifies genetic alterations and patterns that are crucial for therapy selection precise treatment development. In Colombia, limited access to CGP tests underscores the necessity of documenting prevalence treatable alterations. This study aimed describe somatic profile specific cancer types in Colombian patients assess its impact on selection. Methods: A retrospective cohort was conducted at Clínica Colsanitas S.A. from March 2023 June 2024. Sequencing performed NextSeq2000 platform with TruSight Oncology 500 (TSO500) assay, which simultaneously evaluates 523 genes DNA analysis 55 RNA; additionally, analyses were SOPHiA DDM software. The tumor mutational burden (TMB), microsatellite instability (MSI), programmed cell death ligand 1 (PDL1) assessed. Results: Among 111 patients, 103 evaluated, gastrointestinal (27.93%), respiratory (13.51%), central nervous system cancers (10.81%) being most prevalent. TP53 (37%), KMT2C (28%), KRAS (21%) frequent mutations. Actionable findings detected 76.7% cases, notably digestive (20 patients) lung (8 patients). MSI stable 82.52% high 2.91%, whilst TMB predominantly low (91.26%). Conclusions: test has facilitated targeted therapies, improving clinical outcomes patients. is expected increase opportunities personalized medicine Colombia.

Language: Английский

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A 5-year review of genomic medicine in breast cancer: insights from C-CAT data on 3776 Japanese patients

Breast Cancer, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 4, 2024

Language: Английский

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