bims-tumhet 2023-12-31 papers

Issue of 2023‒12‒31
four papers selected by
Sergio Marchini, Humanitas Research

Ann Oncol. 2023 Dec 23. pii: S0923-7534(23)05114-1. [Epub ahead of print]

Liquid Biopsy Response Evaluation Criteria in Solid Tumors (LB-RECIST).

M A Gouda, F Janku, A Wahida, L Buschhorn, A Schneeweiss, N Abdel Karim, D De Miguel Perez, M Del Re, A Russo, G Curigliano, C Rolfo, V Subbiah.

Current evaluation of treatment response in solid tumors depends on dynamic changes in tumor diameters as measured by imaging. However, these changes can only be detected when there are enough macroscopic changes in tumor volume, which limits the usability of radiological response criteria in evaluating earlier stages of disease response and necessitates much time to lapse for gross changes to be notable. One promising approach is to incorporate dynamic changes in circulating tumor DNA (ctDNA), which occur early in the course of therapy and can predict tumor responses weeks before gross size changes manifest. However, several issues need to be addressed before recommending the implementation of ctDNA response criteria in daily clinical practice such as clinical, biological, and regulatory challenges and, most importantly, the need to standardize/harmonize detection methods and ways to define ctDNA response and/or progression for precision oncology. Herein, we review the use of liquid biopsy to evaluate response in solid tumors and propose a plan towards standardization of Liquid Biopsy Response Evaluation Criteria in Solid Tumors (LB-RECIST).

Keywords: Circulating Tumor DNA; Evaluation; Liquid Biopsy; Response; Survival

DOI: https://doi.org/10.1016/j.annonc.2023.12.007

BMJ Open. 2023 Dec 27. 13(12): e074205

Direct-to-consumer tests advertised online in Australia and their implications for medical overuse: systematic online review and a typology of clinical utility.

Patti Shih, Pauline Ding, Stacy M Carter, Fiona Stanaway, Andrea R Horvath, Daman Langguth, Mirette Saad, Andrew St John, Katy Bell.

OBJECTIVES: The objective of this study is to map the range and variety of direct-to-consumer (DTC) tests advertised online in Australia and analyse their potential clinical utility and implications for medical overuse.DESIGN: Systematic online search of DTC test products in Google and Google Shopping. DTC test advertisements data were collected and analysed to develop a typology of potential clinical utility of the tests at population level, assessing their potential benefits and harms using available evidence, informed by concepts of medical overuse.
RESULTS: We identified 484 DTC tests (103 unique products), ranging from $A12.99 to $A1947 in cost (mean $A197.83; median $A148.50). Using our typology, we assigned the tests into one of four categories: tests with potential clinical utility (10.7%); tests with limited clinical utility (30.6%); non-evidence-based commercial 'health checks' (41.9%); and tests whose methods and/or target conditions are not recognised by the general medical community (16.7%). Of the products identified, 56% did not state that they offered pretest or post-test consultation, and 51% did not report analytical performance of the test or laboratory accreditation.
CONCLUSIONS: This first-in-Australia study shows most DTC tests sold online have low potential clinical utility, with healthy consumers constituting the main target market. Harms may be caused by overdiagnosis, high rates of false positives and treatment decisions led by non-evidence-based tests, as well as financial costs of unnecessary and inappropriate testing. Regulatory mechanisms should demand a higher standard of evidence of clinical utility and efficacy for DTC tests. Better transparency and reporting of health outcomes, and the development of decision-support resources for consumers are needed.

Keywords: decision making; health services accessibility; health services administration & management; pathology

DOI: https://doi.org/10.1136/bmjopen-2023-074205

Clin Chim Acta. 2023 Dec 25. pii: S0009-8981(23)00548-X. [Epub ahead of print] 117746

Liquid biopsy for precision diagnostics and therapeutics.

Kuttiappan Anitha, Bhargavi Posinasetty, K Naveen Kumari, Santenna Chenchula, R Padmavathi, Satya Prakash, Chikatipalli Radhika.

Liquid biopsy (LB) has emerged as a highly promising and non-invasive diagnostic approach, particularly in the field of oncology, and has garnered interest in various medical disciplines. This technique involves the examination of biomolecules released into physiological fluids, such as urine samples, blood, and cerebrospinal fluid (CSF). The analysed biomolecules included circulating tumour DNA (ctDNA), circulating tumour cells (CTCs), cell-free DNA (cfDNA), exosomes, and other cell-free components. In contrast to conventional tissue biopsies, LB provides minimally invasive diagnostics, offering invaluable insights into tumor characteristics, treatment response, and early disease detection. This Review explores the contemporary landscape of technologies and clinical applications in the realm of LB, with a particular emphasis on the isolation and analysis of ctDNA and/or cfDNA. Various methodologies have been employed, including droplet digital polymerase chain reaction (DDP), BEAMing (beads, emulsion, amplification, and magnetics), TAm-Seq (tagged-amplicon deep sequencing), CAPP-Seq (cancer personalized profiling by deep sequencing), WGBS-Seq (whole genome bisulfite sequencing), WES (whole exome sequencing), and WGS (whole-genome sequencing). Additionally, CTCs have been successfully isolated through biomarker-based cell capture, employing both positive and negative enrichment strategies based on diverse biophysical and other inherent properties. This approach also addresses challenges and limitations associated with liquid biopsy techniques, such as sensitivity, specificity, standardization and interpretability of findings. This review seeks to identify the current technologies used in liquid biopsy samples, emphasizing their significance in identifying tumor markers for cancer detection, prognosis, and treatment outcome monitoring.

Keywords: Biomarkers; Cell-free nucleic acids (cfNAs); Circulating tumor DNA (ctDNA); Circulating tumor cells (CTCs); Exosomes; Liquid biopsy; Oncology

DOI: https://doi.org/10.1016/j.cca.2023.117746