Genomic Research Essay Example
Although nearly every human is deemed physically distinct, we are all minimally connected at the genomic level. Thus, it has been concluded that genomic research allows for scientists to reach general conclusions about the human race that may aid in early diagnosis of diseases such as breast cancer and Lynch Syndrome (1). However, the majority of genomic studies and research fails to consider socioeconomic factors that limit minorities’ access to participate and contribute to said genomic studies (2). Individuals benefit most from genomic research conducted in people with similar ancestral backgrounds to them (5) and failure to involve a diversity of races inhibits contributions and advancements to genomics and genetics.
It is undoubtedly true that increasing the diversity of populations that engage in genomic research would benefit all of humanity. The lack of minority representation only hinders our ability to improve universal human health. Although ethnicity is not determined by our DNA and biological qualities, certain ethnic groups correlate to specific allele frequencies, similar environments, and consequently create similar genomes within these ethnic groups (6). Homo sapiens evolved from Africa nearly 300,000 years ago, generating variation in the human genome (7). Logically, there should be a relatively equal racial representation in the population of individuals who partake in genetic studies. Yet, socioeconomic aspects such as limited access to genetic studies and services, unawareness, and distrust of how genetic information will be used results in a predominantly European-descent population (1). Said socioeconomic factors directly contribute to European overrepresentation and an absence of ethnic variation in genetic research and studies.
This lack of ethnic diversity skews the data and results of genetic research to European genetic tendencies and puts minorities who do decide to undergo genetic testing at a disadvantage due to the reduced utilization of genomic research. For example, Cystic Fibrosis (CF) is an autosomal recessive disease common in Europeans but rarer -- and often underdiagnosed -- in African-descent individuals most commonly caused by a three base deletion in the 508th codon, accordingly naming the causative allele △F508 (3, 4). The △F508 allele accounts for over 70% of cases of CF in Europeans but only about 29% of cases of CF in people of African descent (4). However, the mutation 3120+1G→A accounts for 15% to 65% of CF cases in African-descent individuals living in South Africa (4). Since the population of individuals that participate in genomic testing is European dominant, then scientists would conclude that the △F508 allele is the primary cause of CF in human; alterations would be made to the process of risk assessment testing for CF such that the detection of the △F508 allele would be the key focus in early recognition of CF. Although this adjustment would most likely increase early diagnoses of CF in European individuals, the African-descent population would actually be harmed, as early CF detection would not be catered to their genetic tendencies, the 3120+1G→A mutation. Hence, increasing ethnic diversity in genomic research directly benefits minorities who have been consistently underrepresented.
Nonetheless, the results of European dominant genetic studies may still be used in favor of other ethnic groups. After all, every human is genetically similar and advancements regarding similarities in the general human genome create opportunities to improve human health. For instance, analyzing mutations that occur in the PCSK9 gene, which regulates cholesterol, in West African populations allowed for advancements in genetics and genomics that led to a new class of drugs that benefit all humans, regardless of their race and ethnicity (7). Therefore, it is completely incorrect to denote genetic and genomic findings useless simply because of the lack of ethnic diversity in populations contributing to genetic studies, but increasing the activity of minorities and non-European individuals in the field of genetics will significantly benefit the global population rather than a small portion.
Progress made by genetic and genomic studies, though beneficial, have the potential to be even more advantageous to humanity as a whole if more people of color had more access and knowledge to engage in genetic studies and research. Thus, every effort should be made to include more minority individuals in genomic research because as a world of humans built on uniqueness, we must try our best to encompass all ethnicities such that all of humankind benefits from genomic research.
