400 million Arabs missing from global genomics database

Genomics is bold and brave; it promises to revolutionize the future of healthcare. But it is also frustrating because of its lack of diversity. The future it promises is not for everyone, at least not for Arabs as yet.

“Diversity in genomics is a real problem. Between 75-80 percent of the genetic information in the global genomics databases is of people of European descent, followed by 10 percent Asian, 2 percent African, 1 percent Hispanic, and less than 1 percent for all other groups,” said Dr. Said Ismail, Director of Qatar Foundation’s Qatar Genome Programme (QGP).

The human genome is akin to a puzzle, every ethnicity represents a part of the puzzle. At present, some parts of the puzzle are very well defined such as Europeans. Other parts are present but still missing some pieces such as Africans and Asians. Yet another part of the puzzle is almost absent – it is just one large gaping hole – and this part represents Arabs. Around 400 million Arabs exist but are largely unaccounted for in global genomic studies.

“For any ethnicity to benefit from precision medicine, the first step is to sequence and understand its genomes. This is exactly what QGP has been focusing on during the past five years, working relentlessly not only on behalf of Qatar, but also the region and the Arab world – to add the much needed information to the global genomics database. 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,” added Dr. Ismail.

Genomics is the study of the entirety of the genes that make up an organism – called the genome. When using it for disease diagnosis, the first step is to sequence the genome of an affected person; simply put – it is figuring out the order of over approximately 3 billion base pairs that make up a person’s genome.

“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. Here is where the problem is, the current reference human genome is very much lacking mutations specific to the Arab population. What this means is, 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.

The same disease can manifest through different mutations in different ethnicities, according to Dr. Ismail. “Examples include hereditary disorders like thalassemia, cystic fibrosis and also familial cancers like breast and colon cancer, where you’ll find that different populations may have different causative mutations along the relevant genes.

“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.

Genomic information is the main driver of precision medicine, and the team at QGP has worked hard over the past five years to create a repository of sequenced genomes and get the research community in Qatar to mine the data. “The next step is to shift gears from research to clinical implementation, and we hope to initiate this in collaboration with Hamad Medical Corporation, Sidra Medicine and other health care providers in the very near future,” Dr. Ismail added.