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Outside the Lab Profession, Precision medicine, Genetics and epigenetics

The Spice of Life

Precision medicine is an exciting new approach to disease treatment and prevention that tailors therapy to an individual’s lifestyle, environment, and – most importantly – genetic background. As the push toward precision medicine picks up pace, one area of research is integral to its future success: genomics. Since the first human genome was sequenced in 2003, there has been an explosion in the number of genome-wide association studies (GWAS), with around 3,700 carried out to date (1). This ever-growing area of research has led to important discoveries about human health and behavior, including the identification of thousands of genetic risk variants and their biological function.

But precision medicine isn’t a one-size-fits-all approach – in fact, it’s often called by another name: “personalized medicine.” Its wider success fundamentally relies upon the collection of genomic data from diverse and representative study populations whose genetic backgrounds form the basis of new targeted therapies. For example, a number of complex diseases, such as diabetes and coronary heart disease, are associated with multiple genetic variants and their interaction with social and environmental factors. The complex interaction of polygenic traits means that thousands of variants, each with a small influence on an individual’s phenotype, combine to have a greater total effect – which may differ from one person to the next. Therefore, it’s vital to characterize genetic variants from as many individuals as possible to ensure that potential therapies are applicable to everyone.

Although the National Institutes of Health (NIH) introduced a policy in 1993 that requires minority groups to be equally included as clinical research subjects (2), current evidence suggests that little has changed over the past 30 years. As a result, the field of genomics could be facing a large-scale diversity problem. Despite non-European ancestry groups’ accounting for 40 percent of the total US population, not even two percent of the more than 10,000 cancer clinical trials since 1993 have included enough minority participants to satisfy the NIH’s own diversity policy (3).

The consequences of this underrepresentation of non-European ancestry groups could be severe. A lack of diversity in genetic databases is predicted to lead to health disparities when precision medicine research is translated into clinical practice. Ultimately, this could render certain treatments unsuitable for and even dangerous to underrepresented groups.

But why is there such a considerable lack of diversity in genomic research? Is it a reluctance among minority groups to participate? Is there an element of scientific racism? Or is there a lack of effort from researchers to expand their study populations beyond the easily accessible European ancestry samples? We hear from two experts who open up about the diversity crisis and discuss how we can combat it to ensure that the future benefits of precision medicine are felt by all, regardless of ancestry.

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About the Author

Luke Turner

While completing my undergraduate degree in Biology, I soon discovered that my passion and strength was for writing about science rather than working in the lab. My master’s degree in Science Communication allowed me to develop my science writing skills and I was lucky enough to come to Texere Publishing straight from University. Here I am given the opportunity to write about cutting edge research and engage with leading scientists, while also being part of a fantastic team!

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