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

  • University of Cape Town

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

2 Scopus citations

Abstract

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.

Original languageEnglish
Title of host publication2022 IST-Africa Conference, IST-Africa 2022
EditorsMiriam Cunningham, Paul Cunningham
PublisherInstitute of Electrical and Electronics Engineers Inc.
ISBN (Electronic)9781905824694
DOIs
StatePublished - 2022
Externally publishedYes
Event2022 IST-Africa Conference, IST-Africa 2022 - Virtual, Online, Ireland
Duration: 16 May 202220 May 2022

Publication series

Name2022 IST-Africa Conference, IST-Africa 2022

Conference

Conference2022 IST-Africa Conference, IST-Africa 2022
Country/TerritoryIreland
CityVirtual, Online
Period16/05/2220/05/22

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being
  2. SDG 17 - Partnerships for the Goals
    SDG 17 Partnerships for the Goals

Keywords

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

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