4.6 Article

Individualized Medicine in Africa: Bringing the Practice Into the Realms of Population Heterogeneity

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FRONTIERS IN GENETICS
卷 13, 期 -, 页码 -

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FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2022.853969

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individualized medicine; Africa; population heterogeneity; effective size; genetics

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Personalized, stratified or precision approaches aim to put individual variation at the center of scientific medicine, using genomic and biomarker information to predict disease risk and treatment response. However, these approaches overlook the hierarchical nature of human variation and the importance of population differences.
The declared aim of personalized, stratified or precision approaches is to place individual variation, as ascertained through genomic and various other biomarkers, at the heart of Scientific Medicine using it to predict risk of disease or response to therapy and to tailor interventions and target therapies so as to maximize benefit and minimize risk for individual patients and efficiency for the health care system overall. It is often contrasted to current practices for which the scientific base is rooted in concepts of a universal biology and a typical or average patient and in which variation is ignored. Yet both approaches equally overlook the hierarchical nature of human variation and the critical importance of differences between populations. Impact of genetic heterogeneity has to be seen within that context to be meaningful and subsequently useful. In Africa such complexity is compounded by the high effective size of its populations, their diverse histories and the diversity of the environmental terrains they occupy, rendering analysis of gene environment interactions including the establishment of phenotype genotype correlations even more cumbersome. Henceforth Individualized methods and approaches can only magnify the shortcomings of universal approaches if adopted without due regard to these complexities. In the current perspective we review examples of potential hurdles that may confront biomedical scientists and analysts in genomic medicine in clinical and public health genomics in Africa citing specific examples from the current SARS-COV2 pandemic and the challenges of establishing reference biobanks and pharmacogenomics reference values.

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