Cancer Biomarkers in the era of precision oncology: Addressing the needs of patients and health systems.

The technical development of high-throughput sequencing technologies and the parallel development of targeted therapies in the last decade have enabled a transition from traditional medicine to personalized treatment and care. In this way, by using comprehensive genomic testing, more effective treatments with fewer side effects are provided to each patient-i.e., precision, or personalized, medicine. In several European countries-such as in England, France and Denmark-the governments have adopted national strategies and taken "top-down" decisions to invest in national infrastructure for precision medicine. In other countries-such as Sweden and Germany, with regionally organized healthcare systems-the profession has instead taken "bottom-up" initiatives to build competence networks and infrastructure to enable equal access to precision medicine. In this review, we summarize key learnings at the European level on the implementation process to establish sustainable governance and organization for precision medicine at the regional, national and EU/international levels. We also discuss critical ethical and legal aspects of implementing precision medicine, and the importance of access to real-world data and performing clinical trials for evidence generation, as well as the need for improved reimbursement models, increased cross-disciplinary education and patient involvement. In summary, precision medicine represents a paradigm shift, and modernization of healthcare and all relevant stakeholders-i.e., healthcare, academia, policy makers, industry, and patients-must be involved in this system transformation, to create a sustainable, non-siloed ecosystem for precision healthcare that benefits our patients and society at large. This article is protected by copyright. All rights reserved.

Implementation of precision medicine in healthcare - a European perspective.

Genetic diagnostics of hematological malignancies has evolved dramatically over the years, from chromosomal banding analysis to next-generation sequencing, with a corresponding increased capacity to detect clinically relevant prognostic and predictive biomarkers. In diagnostics of patients with chronic lymphocytic leukemia (CLL), we currently apply fluorescence in situ hybridization (FISH)-based analysis to detect recurrent chromosomal aberrations (del(11q), del(13q), del(17p) and trisomy 12) as well as targeted sequencing (IGHV and TP53 mutational status) for risk-stratifying purposes. These analyses are performed before start of any line of treatment and assist in clinical decision-making including selection of targeted therapy (BTK and BCL2 inhibitors). Here, we present the current view on the genomic landscape of CLL, including an update on recent advances with potential for clinical translation. We discuss different state-of-the-art technologies that are applied to enable precision diagnostics in CLL and highlight important genomic markers with current prognostic and/or predictive impact as well as those of prospective clinical relevance. In the coming years, it will be important to develop more comprehensive genomic analyses that can capture all types of relevant genetic aberrations, but also to develop highly sensitive assays to detect minor mutations that affect therapy response or confer resistance to targeted therapies. Finally, we will bring up the potential of new technologies and multi-omics analysis to further subclassify the disease and facilitate implementation of precision medicine approaches in this still incurable disease.

https://www.frontiersin.org/articles/10.3389/fonc.2023.1146486/pdf

Precision diagnostics in chronic lymphocytic leukemia: Past, present and future

Simple Summary Next-generation sequencing (NGS) is a cutting-edge technology that enables rapid, high-throughput sequencing of DNA and RNA. Researchers and clinicians can identify genetic mutations, gene fusions, and other alterations that may drive cancer growth. This is particularly important in precision oncology as it is applied in the context of Molecular Tumor Boards (MTBs). The latter are multidisciplinary teams of experts who use NGS and bioinformatics tools to analyze patients’ genetic profiles and develop personalized treatment recommendations for cancer patients. Thus, a crucial process for MTB decision-making is the analysis, compilation, and presentation of high-dimensional sequencing data, which are used for both preparation of and case presentation to all stakeholders. MIRACUM-Pipe precisely addresses these requirements and offers an easy-to-use, one-prompt standardized solution to analyze NGS data, including quality control, variant calling, copy number estimation, annotation, visualization, and report generation. Abstract (1) Background: Next-generation sequencing (NGS) of patients with advanced tumors is becoming an established method in Molecular Tumor Boards. However, somatic variant detection, interpretation, and report generation, require in-depth knowledge of both bioinformatics and oncology. (2) Methods: MIRACUM-Pipe combines many individual tools into a seamless workflow for comprehensive analyses and annotation of NGS data including quality control, alignment, variant calling, copy number variation estimation, evaluation of complex biomarkers, and RNA fusion detection. (3) Results: MIRACUM-Pipe offers an easy-to-use, one-prompt standardized solution to analyze NGS data, including quality control, variant calling, copy number estimation, annotation, visualization, and report generation. (4) Conclusions: MIRACUM-Pipe, a versatile pipeline for NGS, can be customized according to bioinformatics and clinical needs and to support clinical decision-making with visual processing and interactive reporting.

/pdf/miracum-pipe-an-adaptable-pipeline-for-next-generation-v438mz0w.pdf

MIRACUM-Pipe: An Adaptable Pipeline for Next-Generation Sequencing Analysis, Reporting, and Visualization for Clinical Decision Making

Precision Medicine in Cancer - A Paradigm Shift.

Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany.

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Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany.