Study: 3.5% of Qataris carry medically actionable genetic variants

In a groundbreaking study, the Qatar Precision Health Institute (QPHI), in collaboration with the College of Health and Life Sciences at Hamad Bin Khalifa University, has uncovered crucial genetic insights that could significantly advance personalized healthcare in Qatar.

The research, published in the European Journal of Human Genetics, reveals that 3.5% of Qataris carry medically actionable genetic variants. These findings have the potential to revolutionize medical treatments in the region.

The study

The study, titled "Analysis of 14,392 Whole Genomes Reveals 3.5 percent of Qataris Carry Medically Actionable Variants," involved a comprehensive analysis of whole genome data from 14,392 individuals.

This large-scale genetic investigation builds on previous research, which identified 2.3% of Qataris with actionable variants in a smaller cohort of 6,045 individuals.

The current study discovered 248 distinct variants in 50 genes, with the most frequent variants found in the TTN, RYR1, and ATP7B genes. These variants are linked to significant health conditions — including cardiovascular diseases like familial hypercholesterolemia and cardiomyopathies — as well as various forms of cancer.

Why does it matter?

The discovery that a significant percentage of the Qatari population carries medically actionable genetic variants is a game-changer for personalized healthcare.

Dr. Amal Elfatih, a Postdoctoral Fellow at HBKU and the study's first author, emphasized the importance of these findings: "Our research has expanded the catalog of deleterious mutations in the Qatari population, providing a crucial resource for developing targeted medical interventions that can significantly improve health outcomes."

The ability to identify and understand these genetic variants enables the development of targeted treatments and preventive strategies, which are particularly important given Qatar's high consanguinity rate.

In addition, these insights into the genetic makeup of the Qatari population hold immense potential for the future of healthcare, paving the way for more precise and effective medical treatments tailored to individuals' genetic profiles.

The context

This study is part of a broader effort to enhance the understanding of genetic predispositions in the Qatari population and establish a foundation for personalized healthcare strategies in the region.

Dr. Hamdi Mbarek, Director of Research and Partnerships at the Qatar Precision Health Institute and senior author of the study, highlighted its significance: "This study not only enhances our understanding of the genetic predispositions in the Qatari population but also establishes a solid foundation for personalized healthcare strategies in Qatar."

The research aligns with international efforts, such as those by deCODE genetics in Iceland, which found that 4% of Icelanders carry an actionable genotype linked to serious diseases. These global comparisons underscore the importance of population-specific genomic research in tailoring precision medicine approaches.

Building on these findings, Qatar Precision Health Institute and Hamad Medical Corporation are launching a project to return these genetic results to participants who consent to receive such information. This initiative aims to enable the prevention and early detection of associated health conditions, marking a significant step towards implementing precision medicine on a national scale.