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Precision Medicine


Figure 1


Distribution of ancestry in the overall catalogue of GWAS studies (left) and individuals


within studies (right), adapted from Sirugo et al 20194


Ancestry category of studies in GWAS catalogue


Ancestry category of individuals in GWAS studies


reported ethnicity and the remaining 8% repre- sents everyone else – including all of Africa, Latin America, Pacific island nations, the Middle East, Central and South Asia and various indigenous tribes across the world (see Figure 1). Despite early efforts to capture a wider range of


human genetic diversity, such as the HapMap5 and 1,000 Genomes Project6, there are major gaps in our understanding of the genomic variants in pop- ulations around the world. One particularly strik- ing example comes from the recent pan-genome analysis of more than 900 individuals of African ancestry, which identified hundreds of millions of bases that are not represented in the current human reference genome7. The conclusion is stark: the vast majority of the


world’s population is not represented in genetic databases. In turn, this means that they cannot benefit from, nor contribute to, advances in genetic medicine to the same extent as people of white European ancestry.


Pharmacogenetics can explain variations in drug response The biomedical research community is slowly becoming more aware of the limitations that come with the lack of diversity in genetic databases, but the problem has persisted for years. Almost two decades of genetic research have consistently been carried out on DNA from people that only repre-


52


sent a small part of the global population, leading to healthcare inequalities where people are misdi- agnosed or receive the wrong treatment and ignor- ing potentially huge sectors of the global pharma- ceutical market. One example is in the treatment of asthma


patients. In the United States, asthma is most prevalent among people of Puerto Rican or African descent, but the commonly-available asthma medi- cation albuterol does not work as effectively in these populations as it does in people of European descent. Recently, a study looking at the genomes of asthma patients appears to have found a genetic factor that explains the variations in response to albuterol, but without further data from people of non-European backgrounds, it has not been possi- ble to repeat the study and come to a definitive conclusion8. Cardiovascular disease is another area where


different parts of the population do not respond in the same way to available treatments. Since the 1980s, clinicians have been aware that certain antihypertensive drugs are more likely to work in people of European background and others are more successful in people of African descent9. In general, it appeared that white people responded well to all types of antihypertensive drugs, while black people benefited more from diuretics or cal- cium channel blockers than from ACE inhibitors or beta-blockers.


Drug DiscoveryWorld Summer 2019


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