3.8 Proceedings Paper

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

期刊

2022 IST-AFRICA CONFERENCE
卷 -, 期 -, 页码 -

出版社

IEEE

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Next generation technologies; implementation science; patient ascertainment; colorectal cancer; Lynch syndrome; mutation detection

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This paper describes a programme focused on identifying familial colorectal cancers, particularly Lynch syndrome, and the use of implementation science. The programme involves genetic testing, counseling, cascade screening, and surveillance colonoscopies conducted by a multidisciplinary team. The paper highlights the economic benefits and value of using this proven precision medicine programme to address inherited cancers in Africa. The combination of selected next-generation DNA sequencing technologies, targeted implementation science programs, skilled multidisciplinary teams, and patient involvement can significantly reduce the incidence, survival, and health-economic impact of Lynch syndrome and other familial colorectal cancers.
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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