The Importance of Diversity in Genetic Testing

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Genetic testing is a medical test that pinpoints differences in chromosomes or genes between populations, which can help identify genetic conditions or the potential for certain groups to develop genetic disorders. In the span of two decades, scientists have used genetic testing to note specific correlations between genetic variations and disease risk. However, it is very common for these studies to be oriented around a less representative sample of mainly white European subjects, thus preventing scientists from researching genetic variants that are applicable to the global population.

By increasing the diversity of a gene pool, scientists are able to observe more changes in genomes, which can help enhance researchers’ overall understanding of the human genome. In a study with subjects with a variety of racial backgrounds alone, researchers and scientists found 27 new gene variations that were associated with severe health conditions. In addition, research supported by the National Institute of Health has also found critical gene differences known for contributing to sickle cell disease in African Americans were also found in Hispanics and Latinos. With a more globally inclusive sample, researchers were able to accommodate new information about genes, which would be beneficial in tailoring new treatments for people with gene-related diseases.

Additionally, through a more diverse genetic study, researchers will be able to help hospitals understand why some individuals will contract infections and others will not, which can help doctors work ahead to treat their high-risk patients. For example, doctors have been aware that people with African, Puerto Rican, and Mexican blood suffer from asthma, but only recently have they figured out the reason for this. These groups share a genetic variant that makes them less sensitive to albuterol, a drug used in inhalers. Over 90% of studies with lung research have only been conducted with mostly white Europeans, which would explain why scientists have taken so long to identify the relationship between African, Puerto Rican, and Mexican people and asthma risk. Equipped with knowledge of this correlation from using a more racially diverse sample, doctors are now able to work ahead to help their patients who are susceptible to asthma and other diseases.

Some might believe that because humans are 99.9% identical on a genetic level, there is no need for racially varied subjects. However, if our world was so homogenous, there would be no vibrancy and uniqueness in our culture, our traditions, and our history. Society is able to thrive on the differences caused by 0.1 percent of our DNA, and that is worth studying. Examining the 0.1 percent of DNA that contributes to our unique characteristics has had multiple advantages, such as when scientists discovered a higher frequency of rare nonsense variants or genetic modifications that cause the untimely termination of a protein in PCSK9 in African Americans. They immediately associated this with African Americans’ risk for heart disease, which sheds light on the best way to help patients from all backgrounds at hospitals. When only studying individuals of European ancestry, while these variations were identified, they were in such minimal numbers that analysis of them was believed to be pointless.

In summation, inclusion of more subjects from different cultures and backgrounds is essential in improving our understanding of the human genome and the study of genetics. With a more racially diverse sample alone, genetic scientists were able to discover numerous genetic variations that could assist doctors in preparing to treat high-risk patients and others who have genetic mutations that make them susceptible to diseases and infections. In addition, the variants they found in people of color were drastically different from those of white European ancestry, further proving that the 0.1% of DNA that makes the world a melting pot is an important factor in genomic studies and should be emphasized more in gene research. Looking into the future, when scientists are conducting genomic research, they should incorporate subjects with ancestries other than white Europeans to further comprehend the complex world of genetics and improve human health altogether.

Sources:

• https://magazine.medlineplus.gov/article/new-study-highlights-need-for-diversity-in-genomic-research

• https://www.pbs.org/wgbh/nova/article/lack-diversity-genetic-research-could-be-costing-us-our-health/

• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614884/

• https://www.genome.gov/about-genomics/fact-sheets/A-Brief-Guide-to-Genomics

• https://www.genome.gov/human-genome-project/What

• https://www.genome.gov/human-genome-project/results

• https://medlineplus.gov/genetics/understanding/genomicresearch/gwastudies/

• https://medlineplus.gov/genetics/understanding/testing/genetictesting/

• https://www.genome.gov/about-genomics/fact-sheets/Genetics-vs-Genomics

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Published July 9, 2021

Written by Mackenzie Chen ~ Graphics created by Jess Moerman