Understanding recent advances in genomic testing in paediatric oncology

Serena L. Robinson, Nicola Seneviratne, Madhumita Dandapani
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引用次数: 0

Abstract

Advancements in genomics have had a significant impact on our ability to diagnose and treat several health conditions, notably cancer. In this article, we discuss the evolution of genomic methods from the early first-generation genome sequencing methods such as Sanger sequencing to the latest technology. We also discuss how clinicians can decide which test to use depending on what type of result is required. We discuss the clinical significance of genomic testing including identification of cancer predispositions syndromes, the role of genomics in accurately diagnosing a number of cancers, as well as the utility of genomic data to predict response to targeted therapies. Finally, we detail some of the targeted therapies currently available to treat the various types of childhood cancers. The expansion of genomic testing within the NHS and the essential nature of genomic data to accurately diagnose and optimally treat childhood cancers also poses challenges to the healthcare system both in terms of infrastructure and personnel.

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了解儿科肿瘤基因组检测的最新进展
基因组学的进步对我们诊断和治疗多种疾病(尤其是癌症)的能力产生了重大影响。在本文中,我们将讨论基因组学方法的演变,从早期的第一代基因组测序方法(如桑格测序)到最新的技术。我们还将讨论临床医生如何根据所需的结果类型决定使用哪种检测方法。我们将讨论基因组检测的临床意义,包括癌症易感综合征的鉴定、基因组学在准确诊断多种癌症方面的作用,以及基因组数据在预测靶向治疗反应方面的效用。最后,我们将详细介绍目前可用于治疗各类儿童癌症的一些靶向疗法。基因组检测在英国国家医疗服务系统(NHS)中的推广,以及基因组数据在准确诊断和优化治疗儿童癌症方面的重要作用,也给医疗系统带来了基础设施和人员方面的挑战。
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来源期刊
Paediatrics and Child Health (United Kingdom)
Paediatrics and Child Health (United Kingdom) Medicine-Pediatrics, Perinatology and Child Health
CiteScore
1.20
自引率
0.00%
发文量
70
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