Week 4 Post 2-Genetic Testing Inequities

     The use of human genetic material for scientific research purposes has exploded since the creation of the Human Genome project, mostly brought on by the popularization of at home genetic testing. However, these research studies are innately flawed because they lack the necessary genetic diversity to have the results of any research be applied to the population as a whole. Including greater genetic diversity, in both region and ethnicity, is critical to any genetic research, because it can account for the innate small, but significant genetic differences in people that have evolved from different environmental factors. Not having diversity in the genetic materials used for data can lead to an overlooking of certain aspects in genetics that people of different ethnicities possess, a missing out of certain important mutations, and can perpetuate the continuing legacy of unequal healthcare in the United States and the rest of the world.  The increasing amount of genomic data helps further hereditary disease research and possibly treat or eliminate those diseases. By having access to the specific genome sequence of a person it is easier to pinpoint the specific mutations giving them a disease. However, just as people with different diseases have different genomes than others, people from certain regions of the world also have different genomes, due to evolutionary traits caused by their specific environment. Currently the majority of data on genomes comes from people whose ancestors were from Europe, which limits the accuracy of any claims made about a genetic disease. The danger of only using an insular population to base genetic research and discoveries off of has already been shown in small samples, such as with quantitative red blood cell traits, the loci of which are important to genetic research. A study by the Population Architecture Using Genomics and Epidemiology (PAGE) program looked at genetic loci that are related to red blood cell traits specifically comparing African American and Hispanic populations to European ones and found that a certain locus had unique signaling that was previously unknown and was only present in the African American and Hispanic participants. This study is emblematic of the many potential opportunities for understanding that are missed if diverse populations are not included. In addition to missing certain genetic traits that are included in different populations of racial groups, not having diverse regions of study can lead to missing out on genetic variants that may only be relevant to specific demographics across the world. There are different diseases and mendelian traits that only become notable with certain geographies. Studying just people who originated from Europe can ignore these traits and potentially cause the overlooking of potential solutions for these genetic problems. Certain variants, called common causative variants, in a gene can create a disease across all populations, but in many genes, called different causative variants, a condition will only be present if a person is under a certain environmental condition, which could include diet or climate. These variations then tend to pop up only in populations which share a genetic ancestral home. Not including a diverse population in studies of genomes can lead to a total overlook of certain relevant genetic variants that are physically expressed. Both of these impacts of not having diverse genetic data have the same consequence-worse healthcare for minority communities. Not knowing the genetic variations of non-European populations leads to a lack of consideration for how effective medical treatments may be for these populations, if they are created for European ones. This also can lead to research ignoring problems that adversely impact non-European populations or are only present under certain environmental conditions that people in the research were not under. These lacking treatments would only further the diaspora of morality rates between Europeans and non-Europeans that exists both nationally and globally. Europeans have had an increase in life expectancy and a decrease in adult and infant mortality that has been much greater than that of non-European populations. The disparity is already present in the genetic testing field as commercial genetic tests who often tout their ability to give risk scores for different diseases, calculate that risk is based on their predominantly European data, meaning the risk predictions are much more accurate people of European descent. These differences are bound to be increased if the data collected on genetics is not diversified.

    Learning about the inequities in genetic databases in important because it has real world consequences for many communities. It is also a problem that is holding back scientific discovery, and stopping new possibly helpful technologies from being discovered. This problem is also one that is very solvable, and with a little effort and funding could be connecting. Understanding why lack of genetic diversity in databases is a problem, is helpful to create an argument for why there should be more funding in to the expand them. This could be helpful when writing a thesis because it is a current problem that is effecting the science community but is also emblematic to societal problems.