Cataloging Global Diversity in the Human Genome: Promises and Pitfalls

Cataloging Global Diversity in the Human Genome: Promises and Pitfalls

Science Non-Fiction seminar (8th February 2016) with Dr Manjinder Sandhu, Lecturer in Epidemiology, Department of Public Health and Primary Care; Group Leader, Genetic Epidemiology Group – Wellcome Trust Sanger Institute

Cataloging the human genome, its variations and mutations, promises to give us ever-greater understanding of human history, migration patterns, and the diseases and treatments that affect us. However, during our Science Non-Fiction seminar series hosted by CRASSH, Manjinder Sandhu pointed out that the nature of research in this field so far is not without its blind spots.

As with much cutting-edge science, genomic research has to date primarily taken place in well-resourced parts of the world, focused on the interests of those regions. As a result, our understanding of the human genome represents only a sliver of the global picture. This is exacerbated by the fact that the Euro-American gene pool (the principal focus of research so far) is comparatively small, having expanded from a migrant sub-population of people from Africa who themselves represented only a fraction of the genetic diversity on the continent.

The undocumented world is, in effect, far richer in its genetic diversity. Sandhu stressed that, if we are to gain a more complete, nuanced picture of the human genome, we need to research more genetically diverse populations than the ones we currently understand. In particular, he highlighted the importance of mapping genetic patterns of populations that have been isolated or divergent over a long period of time.

The implications of this limited research focus are significant. Substantial resources, both financial and intellectual, have been poured into broadening our understanding of a narrow selection of the global gene pool. This raises questions over the fairness and advisability of the funding patterns that exacerbate an imbalanced distribution of knowledge. Knowledge for knowledge’s sake suffers if diverse genomes remain uncatalogued, and the humanitarian ramifications are pressing.

On the medical front, the lack of large-scale human genomic data sets of African populations in particular, means that accurate prediction of the likelihood of disease for certain genetic types is difficult. Concrete data to indicate accurately the relationship between genetic variation, age, gender and the risk of disease, for example, simply do not yet exist for genetically diverse populations. Instead, risk prediction indices formulated on Euro-American genomic research are projected onto genetic patterns to which they may not apply. Therefore the medication and medical advice dispensed in an African context may  be incorrect.

While Sandhu acknowledged that the large-scale research projects required to remedy the situation are financially and technically challenging in areas with little infrastructure and resources, he believes these barriers are not insurmountable. By capturing the human genome’s variations through the study of more diverse gene pools, research projects like Sandhu’s promise to integrate research with developing public health frameworks and medical support in the populations that are being studied. Broadening and deepening the distribution of global scientific knowledge on the one hand, human health, in the long run, will benefit too.

Written by Clara Elliot on behalf of the Centre for Global Equality

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This seminar is part of a series titled “Science Non-Fiction and the Bottom Billion: Evolving Fairer Frameworks for the Future”, which is funded and hosted by the Centre for Research in the Arts, Social Sciences and Humanities (CRASSH) at the University of Cambridge.

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