Deeper understanding of genomics support researchers discover new perceptions

In genomic studies, researchers look at a population’s DNA to figure out how genetics affects health and disease. Even though genetic research has been conducted for more than a decade, the majority of volunteers have been of European heritage.

Increasing levels of genomic samples can enhance researchers’ capacity to spot significant genetic markers for health conditions, according to a new study led by Lindsay Fernández-Rhodes, assistant professor of bio behavioral health at Penn State, and Mariaelisa Graff, associate professor of epidemiology at University of North Carolina at Chapel Hill.

Precision medicine

One of the objectives of genetic research is to produce precision medicine, which is the administration of the specific treatment or medication that a person needs at the precise moment that they require it.

Precision medicine is a great idea, but it only works if we study the full diversity of the populations that we may see in the clinic. We cannot treat people with precision if we do not have the relevant data. Previous large-scale genomic studies have largely overlooked Hispanic/Latino people.”

Lindsay Fernández-Rhodes, Assistant Professor, Bio Behavioral Health, The Pennsylvania State University

“Since the United States is becoming increasingly diverse, our ability to provide appropriate medical treatment will suffer if the gaps in our genomic data are not addressed,” Fernández-Rhodes added.

The Hispanic/Latino Anthropometry Consortium

Over 100 researchers from all over the world accompanied Fernández-Rhodes and Graff to establish the Hispanic/Latino Anthropometry Consortium. To increase the diversity of genomic investigations, the collaboration pooled research skills and genetic information on people of Hispanic/Latino heritage.

Kari E. North, Professor of Epidemiology at the University of North Carolina, one of the consortium’s multiple principal investigators, and co-author of this research states, “Our consortium fills a major research gap in genomic studies. Inclusion of individuals of diverse ancestral backgrounds is imperative, both from the perspective of scientific necessity and equity.”

“By embracing diversity, we are discovering novel genomic associations and moving the field forward,” North added.

The value of diversity in genomic studies

Fernández-Rhodes and Graff led a study of genetic data from more than 70,000 Hispanic/Latino people published in Human Genetics and Genomics Advances. The data came from 18 smaller studies, which were pooled with two other consortia to provide a total sample of nearly 470,000 persons. The research is the largest genetic analysis of body measurements in Hispanic/Latino people yet published.

The scientists discovered sections of the genome that are linked to three body measurements: BMI, height, and the waste-to-hip ratio. Doctors most commonly utilize BMI, which is a weight-to-height ratio, to assess obesity. The waist-to-hip ratio illustrates where people carry extra weight on their bodies.

Scientists from the Consortium discovered 42 previously unknown areas of the human genome linked to BMI, height, and waist-to-hip ratio. Previous genome research had looked into these qualities, but the consortium’s pooled data made it easier to locate the regions because of the Hispanic/Latino people’s distinct ancestry and experiences.

Researchers may be able to learn more about how people grow, develop, and, probably most significantly for human health and develop fat—thanks to the newly discovered sections of the genome. Interestingly, the regions appear to be important for everyone’s health and development, independent of ancestry. The findings, according to the researchers, show that there is a universal need to develop larger, more diversified data sources.

There is a very large gap between who is experiencing obesity and who is being included in genomic studies. The consortium is working to close one part of that gap. Hopefully, this is the first step of many toward increased diversity in genomic studies. Researchers need to ensure that all people are represented in our scientific knowledge base. We need to harness the power of diversity to uncover the genes that pattern human health and disease.”

Lindsay Fernández-Rhodes, Assistant Professor, Bio Behavioral Health, The Pennsylvania State University