4.7 Review

African genetic diversity and adaptation inform a precision medicine agenda

Journal

NATURE REVIEWS GENETICS
Volume 22, Issue 5, Pages 284-306

Publisher

NATURE PORTFOLIO
DOI: 10.1038/s41576-020-00306-8

Keywords

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Funding

  1. Fundo Europeu de Desenvolvimento Regional (FEDER) funds through COMPETE 2020, Portugal 2020
  2. Portuguese funds through Fundacao para a Ciencia e a Tecnologia/Ministerio da Ciencia, Tecnologia e Inovacao [POCI-010145-FEDER-007274]
  3. National Institutes of Health (NIH) [U01MH115485]
  4. NIH [U54HG010275, U54HG006938]
  5. South African Research Chair in Genomics and Bioinformatics of African populations - Department of Science and Innovation

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African populations have rich genetic diversity and a long evolutionary history, but recent exposures to new pathogens and lifestyle changes may lead to health risks from certain genetic variants. African genomic studies offer highly valuable insights into the genomics and molecular basis of health and disease, but limited research on African populations globally hinders the applicability of precision medicine approaches.
The deep evolutionary history of African populations, since the emergence of modern humans more than 300,000 years ago, has resulted in high genetic diversity and considerable population structure. Selected genetic variants have increased in frequency due to environmental adaptation, but recent exposures to novel pathogens and changes in lifestyle render some of them with properties leading to present health liabilities. The unique discoverability potential from African genomic studies promises invaluable contributions to understanding the genomic and molecular basis of health and disease. Globally, African populations are understudied, and precision medicine approaches are largely based on data from European and Asian-ancestry populations, which limits the transferability of findings to the continent of Africa. Africa needs innovative precision medicine solutions based on African data that use knowledge and implementation strategies aligned to its climatic, cultural, economic and genomic diversity.

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