下一代DNA测序技术和实施科学在减少家族性结直肠癌在发展中国家的影响

Rajkumar Ramesar, Ramadhani Salum Chambuso
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引用次数: 1

摘要

本文介绍了我们确定家族性结直肠癌特别是Lynch综合征的方案和实施科学的应用。通过使用下一代DNA测序技术、遗传咨询、级联筛查和监测结肠镜检查提供基因检测,多学科团队对患者进行管理。我们描述了这种干预的经济效益,并强调了使用这种“经过验证的精准医学规划”来解决非洲遗传癌症负担的价值。通过以下结合,有可能降低Lynch综合征和其他家族性结直肠癌的发病率、生存率和健康经济影响:(i)选定的下一代DNA测序技术,(ii)癌症遗传学中有针对性的实施科学计划,(iii)由医学科学家、肿瘤学家和临床专家组成的高技能多学科团队,以及(iv)作为关键利益相关者的患者及其家属。
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Next Generation DNA Sequencing Technologies and Implementation Science in Reducing the Impact of Familial Colorectal Cancers in Developing Countries
This paper describes our programme of ascertainment of familial colorectal cancers specifically Lynch syndrome and the application of implementation science. Patients are managed through a multidisciplinary team by providing genetic testing using next generation DNA sequencing technologies, genetic counselling, cascade screening, and surveillance colonoscopies. We describe the economic benefits of this kind of intervention, and emphasise the value of using this “proven programme of precision medicine” to address the burden of inherited cancers in Africa. It is possible to reduce the incidence, survival, and health-economic impact of Lynch syndrome and other familial colorectal cancers through a combination of the following: (i) selected next-generation DNA sequencing technologies, (ii) targeted implementation science programs in cancer genetics, (iii) highly skilled multidisciplinary teams of medical scientists, oncologists, and clinical specialists, and (iv) patients and their families as the key stakeholders.
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