Written by Gul Karen Aca
The Human Genome Project, the endeavor to map the human genomic sequence, earned the reputation of “the first draft of the human book of life” because most of the participants are of European descent (5). Since then, genetic studies have revolved around comparing the 0.1% identical DNA and the Human Genome Project - hence - European ancestry. 78% of the genomic data on the [European] population comprises only 16% of the global population paralyzing genetic research, increasing health disparities, and possibly leading to erroneous clinical practice (11,4). To illustrate, a non-European government that implements a public health policy based on European research can be at risk of incomplete implementation.
The weak points of unbalanced population representation derive largely from the constantly evolving and changing nature of the human genome. When small and unique genetic changes create dramatic effects—from disease to immunity—restricting genomic research studies to a single population becomes impractical for well-informed research. Can the exclusion of genetically distinct populations ignore genetic variation (11)? For example, consider the case of an underrepresented African population in genetic studies (10)—from which modern humans evolved. This situation has the potential to unravel the controversies of human genetics and generate new insights into clinical care for African people.
The omission can give not only results but also incorrect genomic results because the existing data may not correspond to that of a non-European person: in a study carried out in Africa, genetic tests incorrectly determined that patients had a genetic predisposition to heart disease; However, the experiment turned out to be based on data from the white population (10).
The aforementioned deficiencies stemming from genetic differences in underrepresented populations reduce the utility of genomic findings on underserved populations and increase health disparities. While well-represented populations may benefit from precision medicine approaches that rely on genetic markers, underrepresented ethnicities are more likely to be disadvantaged due to limitations in generalizability, limitations in translation to health care, and documentation of gene deficiency—especially those in European ancestry suffer less. (3,7). For example, companies such as 23andMe provide their customers with information about their risk of developing type 2 diabetes. Predictably, the estimated accuracy rate in Europeans is 6-5 times higher than in people of other ancestries (2). As CRISPR-Cas9 technology leads genomic research, the inclusion of different ancestries will provide room for advancement in research. provide genetics and human health. Of course, this time path-breaking activities -CRISPR-Cas9 and inclusion- can participate -eg. revealing which gene sequence to manipulate—and guide each other to overcome the above problems.
In this concept, inclusion will improve our ability to understand genetic architecture which, ultimately, will lead to future genomic studies by increasing knowledge about genetic variation and evaluating the accuracy of genomic findings (5,8 ). For example, Latino origin accounts for only 1% of genomic research participants and 4% of findings. Those of European origin, on the other hand, are 78% of the research subjects, but only 54% participated; Thus, inclusion provides insight into the resilience and flexibility of the human genome's nature (5). In addition, correlations between certain disease characteristics and variants specific to the European population can be false-positive. In fact, examining a broad representation of the population can reveal insights that would otherwise be missed and lend credibility to CRISPR-Cas9 studies (6).
In addition, the analysis of different populations is critical for the identification of genetic diseases and the development of accurate and effective therapies for all individuals (9). However, controversy continues to affect the population: Africans, Puerto Ricans, and Mexicans are known to have unusually high rates of asthma-related deaths. A recent study revealed that these groups often carry genetic variants that make them less sensitive to albuterol, a drug used in inhalers (11). In addition, it is necessary to identify genetic variants that affect drug metabolism in order to improve human health and accurately predict drug response (4).
A clear concern is that diverse representation in genetic and genomic research is greatly needed to improve future genetic research and improve human health. The only way to solve the problem is to break the cycle and start collecting samples from previously neglected populations (11). Despite the difficulties of the process, for example. The "Cohort Preferred" effect, the aforementioned disadvantages - such as inaccurate genomic findings and public health policies - and potential benefits - the renewal of genetic research and human health emphasize that decisive action is urgently needed (1).
References:
1. Bentley, A. R., Callier, S., & Rotimi, C. N. (2017). Diversity and inclusion in genomic research: why the uneven progress?. Journal of community genetics, 8(4), 255–266. https://doi.org/10.1007/s12687-017-0316-6.
2. Floyd JS, Psaty BM. The Application of Genomics in Diabetes: Barriers to Discovery and Implementation. Diabetes Care. 2016 Nov;39(11):1858-1869. doi: 10.2337/dc16-0738. PMID: 27926887; PMCID: PMC5079615.
3.Latrice, G. L., Nadya, A., David R. W., Heidi L. R., Vence, L. B. (May 2018). Lack of Diversity in Genomic Databases is a Barrier to Translating Precision Medicine Research into Practice. Retrieved March 2, 2021, from Health Affairs, 37-5. doi: 10.1377/hlthaff.2017.1595.
4. Lowe WL Jr, Reddy TE. Genomic approaches for understanding the genetics of complex disease. Genome Res. 2015;25(10):1432-1441. doi:10.1101/gr.190603.115
5. Mapes, Diane (2019, June 19). Lack of diversity in genetic research a problem. Retrieved February 26, 2021, from https://www.fredhutch.org/en/news/center-news/2019/06/lack-diversity-genetic-research-problem.html.
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