Calabria Inés, Pedrola Laia, Berlanga Pablo, Aparisi María José, Sánchez-Izquierdo Dolors, Cañete Adela, Cervera José, Millán José María, Castel Victoria
Unidad Genómica, Instituto de Investigación Sanitaria La Fe, Valencia, España.
Unidad de Oncología Pediátrica, Hospital Universitario y Politécnico La Fe, Valencia, España; Investigación Clínica y Traslacional en Cáncer, Instituto de Investigación Sanitaria La Fe, Valencia, España.
An Pediatr (Barc). 2016 Nov;85(5):273.e1-273.e7. doi: 10.1016/j.anpedi.2016.05.006. Epub 2016 Jun 24.
Precision Medicine is an emerging approach for the diagnosis, treatment and prognosis of genetic diseases that enables clinicians to more accurately predict which treatment strategy will be optimal in a patient. The aim of Precision Medicine in Oncology is to integrate clinical, histological, and molecular data in order to obtain a deeper knowledge about the biology and genetics of an individual's tumour. Over the last few years, the implementation of new NGS (Next Generation Sequencing) technologies into clinical practice has been essential. There is a wide variety of NGS techniques that can be used in this context. The correct interpretation of molecular changes detected by these techniques is paramount for their appropriate use. In this review, a discussion is presented on the main NGS sequencing technologies that can be used to improve the diagnosis, prognosis, and treatment of oncology patients.
精准医学是一种用于遗传疾病诊断、治疗和预后的新兴方法,它使临床医生能够更准确地预测哪种治疗策略对患者最为合适。肿瘤学中的精准医学旨在整合临床、组织学和分子数据,以便更深入地了解个体肿瘤的生物学和遗传学特性。在过去几年中,将新的下一代测序(NGS)技术应用于临床实践至关重要。在这种情况下,可以使用多种NGS技术。正确解读这些技术检测到的分子变化对于其合理应用至关重要。在本综述中,将讨论可用于改善肿瘤患者诊断、预后和治疗的主要NGS测序技术。