Bridging the Diversity Gap in Genomics

Exploring the Importance of diverse and inclusive samples in genomic studies.

FREMONT, CA: Genomics is the study of a person's genes and how they interact with each other and the environment to better understand how genetics affects health and disease. Precision medicine relies on genomic studies to help doctors choose medicines that are most likely to be beneficial depending on a patient's unique genes, environment, and lifestyle. Although genome research is an important part of medication development and health research, the majority of volunteers in genomic studies have been of European heritage. As the field of genetic-based precision medicine expands, those who are underrepresented in the data may be denied access to medical care that could help to prevent the spread of diseases among specific groups, notably minorities. In a new study conducted the Pennsylvania State University in the United States, researchers have taken a significant step forward in genomics. The research, which was just published in Human Genetics and Genomics Advances, found that employing a varied group of genomic samples can help researchers discover novel genetic markers for health disorders, potentially improving precision medicine.

Even though genomic studies are not the only medical field lacking in diversity, the historically over-representation of certain groups in medical research 

may be due to the ease of recruitment in certain populations—particularly when studies rely on volunteers or clinical populations. Furthermore, these groups may be more engaged in research because they have more access to resources, have more trust in the medical establishment, and are less marginalised. 

Many of the available samples were of Northern European ancestry when the Genome-Wide Association Studies began in 2007. Despite considerable progress in terms of big samples from all around Europe and East Asia, as of early 2022, the majority of genome-wide association study samples were still of European heritage. Among the findings from this research, one of the most interesting findings was a secondary genetic signal that was revealed in the gene ADCY5. Additionally to its association with obesity, it has been previously associated with diabetes and adverse birth outcomes. In addition to the previous descriptions of this region, the discovery of a new (or secondary) signal in this region explains even more of the variability in human populations.

Scientists would be able to comprehend the ramifications of any form of pharmaceutical or public health intervention on the complete range of variation in human populations if such sections of the genome were fine-mapped.