Literature DB >> 34240178

Has translational genomics come of age in Africa?

Michelle Kamp1,2, Amanda Krause1, Michele Ramsay1,2.   

Abstract

The rapid increase in genomics research in Africa and the growing promise of precision public health (PPH) begs the question of whether African genomics has come of age and is being translated into improved healthcare for Africans. An assessment of the continent's readiness suggests that genetic service delivery remains limited and extremely fragile. The paucity of data on mutation profiles for monogenic disorders and lack of large genome-wide association cohorts for complex traits in African populations is a significant barrier, coupled with extreme genetic variation across different regions and ethnic groups. Data from many different populations are essential to developing appropriate genetic services. Of the proposed genetic service delivery models currently used in Africa-Uncharacterized, Limited, Disease-focused, Emerging and Established-the first three best describe the situation in most African countries. Implementation is fraught with difficulties related to the scarcity of an appropriately skilled medical genetic workforce, limited infrastructure and processes, insufficient health funding and lack of political support, and overstretched health systems. There is a strong nucleus of determined and optimistic clinicians and scientists with a clear vision, and there is a hope for innovative solutions and technological leapfrogging. However, a multi-dimensional approach with active interventions to stimulate genomic research, clinical genetics and overarching healthcare systems is needed to reduce genetic service inequalities and accelerate PPH on the continent. Human and infrastructure capacity development, dedicated funding, political will and supporting legislation, and public education and awareness, are critical elements for success. Africa-relevant genomic and related health economics research remains imperative with an overarching need to translate knowledge into improved healthcare. Given the limited data and genetic services across most of Africa, the continent has not yet come of 'genomics' age.
© The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Entities:  

Mesh:

Year:  2021        PMID: 34240178     DOI: 10.1093/hmg/ddab180

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  2 in total

1.  Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.

Authors:  Aimé Lumaka; Nadia Carstens; Koenraad Devriendt; Amanda Krause; Benard Kulohoma; Judit Kumuthini; Gerrye Mubungu; John Mukisa; Melissa Nel; Timothy O Olanrewaju; Zané Lombard; Guida Landouré
Journal:  Orphanet J Rare Dis       Date:  2022-06-16       Impact factor: 4.303

2.  African genomic data sharing and the struggle for equitable benefit.

Authors:  Michèle Ramsay
Journal:  Patterns (N Y)       Date:  2022-01-14
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.