Genetic risk markers and misrepresentation – The Medium

The Medium recently had the chance to sit down with Dr. EstebanParra, a molecular anthropologist and anthropology professor at the Universityof Toronto Mississauga (UTM).

Parra has hada long and far-reaching journey in science which began in one of the oldestuniversities in Spain, the University of Santiago de Compostela. He began hisstudies in biology and like many students everywhere [he] discovered what [hewas] really passionate about while completing his undergraduate degree.

For Parra, thediscovered passion was anthropology and genetics. After completing his Ph.D.degree, he completed a postdoctoral fellowship at a molecular anthropology labin Spain. He was also a post-doctoral fellow in Rome, Italy, and Pittsburgh,USA, before joining UTM in 2002. Parra advises those interested in graduatestudies to be willing to follow the opportunities that arise. For him, it hasbeen incredibly exciting to see how the UTM campus has changed and grown inthe past seventeen years. We have been attracting incredible new faculty, notonly to anthropology but to many other programs, which has been nice to see,he says.

Parra hascontinued his research at UTM. One of the focuses of his research is toidentify some of the genetic risk markers of traits and diseases such asobesity, type 2 diabetes, cardiovascular diseases, and cancer. This is doneusing a genome wide association study to identify variants that are associatedwith these traits. Parra uses a consortiaa large group of samplesto haveaccess to as much data as possible. The more samples there are, the higherchance there is of finding a common link between the genetics of an individualand the ailments they suffer from.

Parra doesmention that genetics are often not the only cause. For diseases such as cysticfibrosis, ones genes are the primary factor in causing the condition. Thesediseases are termed Mendelian disorders. However, for complex conditions likeobesity and diabetes, ones environment and lifestyle play a huge role.Modifications in your lifestyle, your diet, and physical activity, are thebest way to combat conditions such as obesity and diabetes, said Parra.

An excitingdevelopment Parra is looking forward to is the advancement of precisionmedicine. Precision medicineor personalized medicine as it is sometimesreferred tois when an individuals genetic profile can be used to develop atailor-made treatment program for the individual. Precision medicine is a newfield because it has only recently been made possible by technologicaladvancements, which have also lowered the cost of genetic studies dramatically,and, in turn, opened many doors in the field of genetics.

Parraemphasizes the importance of collecting as much data as possible. The best wayto approach this is to collaborate with other scientists [] there are somestudies that are done with many participating research groups, and they havebeen able to use samples of up to a million individuals.

One of theadvantages of collecting a large number of samples is balanced representationof diverse ethnic groups, which for Parra is very important. He explains thatgenetic studies in the past have primarily been conducted in European countrieswhich is problematic for the future of precision medicine. When you primarilywork in just one population group, it may not be as helpful for the rest of theworld, he says.

In fact, foralmost all non-European groups, underrepresentation is a significant issuewhich is only improving slowly. Underrepresentation can be attributed to avariety of factors such as biasness and the location of the research groups whogenerally choose to perform their research in their own areas. Parra encouragesthose conducting research to overcome these factors since it is absolutelycritical to do more studies and represent these groups.

Parra hascontributed in his own right to the growth of the sample pool. One of thestudies he participated in was part of a large collaboration with researchersfrom around the world. Together, the researchers collected samples from overeighteen thousand individuals of various ethnicities. Since very few studieshad been previously conducted on non-European populations, they focused onlooking for genetic markers of obesity in children. Ultimately, they discovereda new locusa fixed position on a chromosome where a genetic marker is located.The locus they had discovered had not been found in significant numbers inpurely European groups, but appeared consistently in the diverse sample pool,exemplifying the need for more diverse sources.

Despite theshortcomings, Parra is hopeful about the future of the field and its growth. Heencourages greater awareness of the disparity of samples and urges efforts torectify the misrepresentation. He is immensely passionate about anthropologyand genetics and finishes off by stating, DNA is an open bookyou just need toknow how to read it.

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Genetic risk markers and misrepresentation - The Medium