Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment.

IF 1.3 4区 生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2024-11-14 DOI:10.1186/s13039-024-00698-w
Antonia A Gazola, William Lautert-Dutra, Leticia Frohlich Archangelo, Rodolfo B Dos Reis, Jeremy A Squire
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Abstract

In recent years, the expansion of molecularly targeted cancer therapies has significantly advanced precision oncology. Parallel developments in next-generation sequencing (NGS) technologies have also improved precision oncology applications, making genomic analysis of tumors more affordable and accessible. Targeted NGS panels now enable the rapid identification of diverse actionable mutations, requiring clinicians to efficiently assess the predictive value of cancer biomarkers for specific treatments. The urgency for timely and accurate decision-making in oncology emphasizes the importance of reliable precision oncology software. Online clinical decision-making tools and associated cancer databases have been designed by consolidating genomic data into standardized, accessible formats. These new platforms are highly integrated and crucial for identifying actionable somatic genomic biomarkers essential for tumor survival, determining corresponding drug targets, and selecting appropriate treatments based on the mutational profile of each patient's tumor. To help oncologists and translational cancer researchers unfamiliar with these tools, we review the utility, accuracy, and comprehensiveness of several commonly used precision medicine software options currently available. Our analysis categorized selected genomic databases based on their primary content, utility, and how well they provide practical guidance for interpreting somatic biomarker data. We identified several comprehensive, mostly open-access platforms that are easy to use for genetic biomarker searches, each with unique features and limitations. Among the precision oncology tools we evaluated, we found MyCancerGenome and OncoKB to be the first choice, offering comprehensive, accurate up-to-date information on the clinical significance of somatic mutations. To illustrate the application of these precision oncology tools in clinical settings, we evaluated three case studies to see how use of the platforms could have influenced treatment planning. Most of the precision oncology software evaluated could be easily streamlined into clinical workflows to provide updated information on approved drugs and clinical trials related the actionable mutations detected. Some platforms were very intuitive and easy to use, while others, often developed in smaller academic settings, were more difficult to navigate and may not be updated consistently. Future enhancements, incorporating artificial intelligence algorithms, are likely to improve integration of the platforms with diverse big data sources, enabling more accurate predictions of potential therapeutic responses.

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精准肿瘤学平台:在癌症治疗中利用基因组数据库的实用策略。
近年来,癌症分子靶向疗法的推广极大地推动了精准肿瘤学的发展。与此同时,下一代测序(NGS)技术的发展也改善了精准肿瘤学的应用,使肿瘤基因组分析变得更加经济实惠、更容易获得。现在,有针对性的 NGS 面板能够快速识别各种可操作的突变,这就要求临床医生有效评估癌症生物标志物对特定治疗的预测价值。肿瘤学决策及时准确的紧迫性强调了可靠的精准肿瘤学软件的重要性。在线临床决策工具和相关癌症数据库是通过将基因组数据整合为标准化、可访问的格式而设计的。这些新平台高度集成,对于确定对肿瘤生存至关重要的可操作体细胞基因组生物标记物、确定相应的药物靶点以及根据每位患者肿瘤的突变情况选择适当的治疗方法至关重要。为了帮助不熟悉这些工具的肿瘤学家和转化癌症研究人员,我们回顾了目前几种常用精准医疗软件的实用性、准确性和全面性。我们的分析根据所选基因组数据库的主要内容、实用性及其为解读体细胞生物标记物数据提供实用指导的程度对其进行了分类。我们发现了几种易于用于基因生物标记物搜索的综合性平台,它们大多是开放获取的,每种平台都有独特的功能和局限性。在我们评估的精准肿瘤学工具中,我们发现 MyCancerGenome 和 OncoKB 是首选,它们能提供有关体细胞突变临床意义的全面、准确的最新信息。为了说明这些精准肿瘤学工具在临床环境中的应用,我们评估了三个案例研究,以了解这些平台的使用如何影响治疗计划。所评估的大多数精准肿瘤学软件都能轻松地简化到临床工作流程中,以提供与检测到的可操作突变相关的已批准药物和临床试验的最新信息。有些平台非常直观且易于使用,而其他平台通常是在较小的学术环境中开发的,比较难以操作,而且可能不会持续更新。结合人工智能算法的未来增强功能可能会改善平台与各种大数据源的整合,从而更准确地预测潜在的治疗反应。
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来源期刊
Molecular Cytogenetics
Molecular Cytogenetics GENETICS & HEREDITY-
CiteScore
2.60
自引率
7.70%
发文量
49
审稿时长
>12 weeks
期刊介绍: Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.
期刊最新文献
Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment. False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up. Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications. Detection of regions of homozygosity in an unusual case of frontonasal dysplasia. Insights into avian molecular cytogenetics-with reptilian comparisons.
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