Next Generation DNA Sequencing Technologies and Implementation Science in Reducing the Impact of Familial Colorectal Cancers in Developing Countries

被引:0
|
作者
Ramesar, Raj [1 ]
Chambuso, Ramadhani [1 ]
机构
[1] Univ Cape Town, Fac Hlth Sci, Inst Infect Dis & Mol Med, Dept Pathol,Div Human Genet,MRC Genom & Precis Me, ZA-7925 Cape Town, South Africa
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关键词
Next generation technologies; implementation science; patient ascertainment; colorectal cancer; Lynch syndrome; mutation detection; SERVICES; POLYPOSIS; FEATURES; DEFECTS; CARE;
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TP39 [计算机的应用];
学科分类号
081203 ; 0835 ;
摘要
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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页数:11
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