Over the past five years, QGP has worked relentlessly to establish the first Arab genome, using extensive research and data, according to Dr. Said Ismail, Director of Qatar Foundation’s QGP.
The genetic information in the global genomics databases dominantly includes those of European descent, which counts for roughly 75-80 percent of the information, followed by 10 percent Asian, two percent African, one percent Hispanic, and less than 1 percent for all other groups.
Genomics is the study of a person’s genes, including interactions of those genes with each other and the environment. A complete set of an organism’s DNA is called its genome.
Dr. Ismail said creating the Arab genome can provide several benefits to the field of medicine. “For any ethnicity to benefit from precision medicine, the first step is to sequence and understand its genomes,” he said.
The Arab reference genome will add much-needed information to the global genomics database. This, according to Dr. Ismail, is what makes QGP’s research and work very important not only to Qatar, but to the Arab region in general.
“We have sequenced around 20,000 Qatari genomes and are in the process of sequencing 3,000 of the country’s non-Qatari Arab residents to create the first comprehensive Arab reference genome,” said Dr. Ismail.
In genomics, sequencing means determining the exact order of the bases in a strand of DNA. Since bases exist as pairs, the identity of one determines the other.
Every single cell in the body contains a complete copy of the approximately 3 billion DNA base pairs, or letters, that make up the human genome. To better grasp an understanding of it, one can look at it as a puzzle, in which every ethnicity represents a certain part of the puzzle.
Currently, some parts of the puzzle are very well defined (Europeans), while others are present but missing some pieces (Africans and Asians). On the other hand, the Arab piece to the puzzle remains absent, with little to no information to complete it.
This explains why this research is extremely important, given that around 400 million Arabs exist but are largely unaccounted for in global genomic studies.
“To figure out any anomalies in the base pairs, we need a standard that we can compare it to – this is what is called a reference genome. It is a template genome incorporating the most up-to-date information we have on human genomics, created by putting together a large number of genomes,” explained Dr. Ismail.
Comparing a sequenced genome to a reference genome allows us to identify the similarities and differences between the two. Unfortunately, the current reference human genome lacks mutations specific to the Arab population. This means that if an Arab person’s genome is compared to a European reference human genome, there is a possibility they will either be misdiagnosed or undiagnosed.
According to Dr. Ismail, this is because the same disease can manifest through different mutations in different ethnicities.
First comprehensive Qatari genome
“So far, we have sequenced 20,000 Qatari genomes, and within the next few months we hope to have sequenced 10 percent of the Qatari population. While the end-goal is to sequence the vast majority of the population, scientifically, 10 percent is good enough to capture most of the medically relevant gene variants.
“This has also allowed us to establish the first comprehensive Qatari reference genome. We now know what the main components of the Qatari reference genome are. In this process, we have identified markers that have never been reported before and are unique to the Qatari population,” Dr. Ismail said.
Dr. Ismail added that the team’s next step is to shift gears from research to clinical implementation, slowly taking a step closer to changing Arab medicine in the region.