This research effort not only writes a new narrative journey of a population but adds diversity to the genomic knowledge dataset that will be used to shape precision medicine
In-depth analysis of the genomes of over 6,000 people in the independent emirate of Qatar compared to others has produced key findings and genomic knowledge that will contribute to how hospitals approach precision medicine for specific populations.
This Qatari genomics study was made possible by a partnership between Sidra Medicine’s Department of Human Genetics in Doha, Qatar, and Weill Cornell Medicine-Qatar.
“What is unique in our study is that we looked at more than 6,000 Qatari genomes, the first time this has ever been done at this scale,” stated lead researcher Younes Mokrab, PhD, Assistant Professor at Weill Cornell Medicine in Qatar and Head of the Medical and Population Genomics Laboratory at Sidra Medicine, as part of an interview published in Medical News Today.
For perspective, Encyclopedia Britannica describes Qatar as a small, island peninsula of low-lying desert. The soil there lacks organic material and precipitation is scarce. Most Qataris today live an urban and coastal lifestyle, according to Britannica, which also notes that people from Pakistan, India, and Iran far outnumber Qatari nationals. In addition, the area is believed to hold one of the world’s largest reserves of petroleum and natural gas.
“As well as establishing ancient events in this population, we also compared the data to that of modern populations from various continents,” Mokrab added. “This comparison is one of the essential components of this research that contributes to precision medicine discoveries specific to Arab populations.”
The results of the study are designed to be a benchmark for providing genomic medicine to the people of the Middle East and the Arab world. The researchers have used the data to build a reference panel to impute genetic variation, according to a Sidra Medicine news release.
Population-Specific Insights Driven by Genetic and Genomic Testing
Precision Medicine Institute readers may recall that in April 2022 we reported on a special computer chip technology—QChip— that was used for genetic screening in Qatar. Genetic and genomic testing appear to have come together here for new knowledge of Arab populations.
Researchers have observed:
- higher rates of rare diseases,
- greater diversity in Arab individuals than previously thought, and
- improved genomic insights into this specific population.
The study also provides data into the human migration history of Arab populations.
“The genomic database of the Qatari population and the QChip technology provide an extremely accessible, low-cost, and powerful resource for reducing the incidence of a wide variety of inherited diseases,” stated Amal Robay, PhD, of Weill Cornell Medicine-Qatar in January.
Addressing Reference Bias, Need for More Reference Genomes
Another interesting aspect of the Qatari genome sequencing project is that it adds diversity to the world’s genomic database. Experts say this is one step to solving a problem they call “reference bias.”
“Reference bias is a known issue in human genome resequencing for variant detection, and modifications to the reference can improve calling accuracy and interpretability,” researchers wrote in a 2016 article published in Human Genome Variation. “The region of the Middle East and North Africa (MENA) is an example of such an under-studied meta-population where the rising adoption of precision medicine could benefit greatly from a specific reference genome,” stated the article.
Population genetics looks at genetic mutations in a large number of genomes to establish how populations are related and traces back when they started diverging from each other, according to the Sidra Medicine news release. “In this study we used state of the art statistical methods to measure those relationships and date the splitting events that happened in the past which shaped modern Arab populations,” Mokrab explained.
“For a very long time, Arabs have been considered to form one more-or-less homogenous population,” Mokrab said. “However, by looking at even the relatively small population of Qatar, we found multiple diverse distinct genetic groups, which reflect the wider Arab and Middle Eastern region.
Researchers also found a higher degree of interrelationships in genetic patterns, increasing the risk of rare diseases. “This is a real challenge and, at the same time, a tremendous opportunity for discovery,” Mokrab added.
Deeper Understanding of Disease Risk for Population Studied
This large research project lays an important foundation for precision medicine by providing genomic references for the specific populations studied.
“The idea is that by using sequences of well-defined genomes for a given population, if you want to sequence the next few thousand persons—you won’t necessarily need to go and physically sequence all of their genomes from scratch, you can just copy that,” Mokrab told Medical News Today. “This has a tremendous impact on how fast we can scale up things and the saving we can make on that. Having such a panel for Arab and Middle Eastern populations, it is a game changer for many countries in the region.”
Andrew Clark, PhD, one of the researchers and a population genetics expert at Weill Cornell Medicine, New York agreed with Mokrab. “This data will help shape our understanding of disease risk and etiology in populations that have long been under-represented in world studies,” Clark told NewsMedical.net.
Population-specific discoveries such as this should be of interest to hospital leaders participating in or promoting the use of precision medicine.
The Qatari genomic study not only writes a new a narrative journey of a population but shows that genetic traits and unmet medical needs of populations can differ. This is one of the reasons why there is emphasis on increasing diversity in genomic knowledge in the precision medicine movement. More details can be found in the Nature Communications article, titled, “Thousands of Qatari Genomes Inform Human Migration History and Improve Imputation of Arab Haplotypes.”
—Caleb Williams
Related Information:
Qatari Genome Study Provides Insight into Diversity of Arab Populations
The Qatar Genome: A Population-Specific Tool for Precision Medicine in the Middle East
Qatar Genomics Study Reveals Key Historical and Social Insights into Arab Populations
Qatar Genomic Study Unlocks Secrets of Past to Help Shape Future of Healthcare
Precision Medicine Screening Tool Developed for Citizens of Qatar