A new study has developed a method using public databases to predict the risk of cardiometabolic disease accurately in different ethnic populations, based on genetic information. The method was demonstrated on Arab populations but is easily extended to other ethnic populations underrepresented in public databases.

The research, published in Nature Communications, resulted from an international collaboration led by scientists from Massachusetts General Hospital, the Broad Institute of MIT and Harvard, and Harvard University in the USA, along with the King Faisal Specialist Hospital and Research Center (KFSH&RC) and King Abdullah University of Science and Technology (KAUST) in Saudi Arabia.

While the scientific community has gathered genetic data on millions of people, most of them are of European descent. Consequently, the proportion of Arabs and individuals from other ethnicities in these databases is relatively small. Therefore, individuals at high risk within these underrepresented groups may not be properly identified using standard analysis methods. Focusing on Arab communities, the study presents a new framework that utilizes the same databases alongside public computational tools to determine polygenic scores, offering a more accurate prediction of heart disease.

Dr. Akl Fahed, a cardiologist and scientist at Mass General Hospital and the Broad Institute, and senior author of the study, highlighted the significance of this work, stating, "The power of this work lies in leveraging a framework to develop new polygenic scores for populations with limited genomic data using publicly available sources."

Another senior author of the study, KAUST Professor Dr. Xin Gao, added, "We have developed a general, pragmatic framework consisting of four steps that can be employed to optimize polygenic risk scores for new populations. This pragmatic framework proves particularly valuable for populations that are underrepresented in current genome-wide association studies and large biobanks."

By examining the records of over 5,000 Arab patients, the researchers successfully associated genomic risk with disease severity using their framework. Furthermore, the study demonstrates that genetic risk complements conventional risk factors such as obesity, providing valuable insights into clinical utility.

Dr. Fowzan AlKuraya, a medical geneticist and senior author from KFSH&RC, explained that gaining a better understanding of the risk should prompt changes in both patient and physician behavior.

"The hope is that by presenting a high polygenic score to someone, they will be motivated to take more proactive measures to address modifiable risk factors. This also applies to their physicians, who should reconsider interventions based on the polygenic score, including more frequent and earlier disease screenings," he stated.