Researchers in Qatar develop advanced screening tool for genetic diseases

Scientists in Qatar and Weill Cornell Medicine have teamed up to assemble an innovative low-cost screening tool, “QChip1,” that detects genetic diseases.

Researchers from Weill Cornell Medicine’s (WCM) main campus in New York, WCM-Qatar (WCM-Q) and Qatar Foundation (QF), have collaborated to gather a large genomic database on Qatari citizens in order to develop a low-cost high-tech screening device through which genetic diseases can be detected.

According to WCM’s newsletter, the screening device labelled “QChip1” is a “microarray capable of detecting, from a blood sample, more than 80,000 different DNA variations in genes linked to hereditary disorders.”

The QChip1 microarrays will be sold at a price less than $100 and will be used to assess the risks of genetic disorders among newborns, couples planning to build a family, and hospital patients.

This impressive innovation will essentially be advancing personalised medicine in Qatar.

“The QChip1 screening array marks several key milestones for Qatar,” said study co-author Dr. Khalid Fakhro, chief of research at Sidra Medicine.

“First, it represents a significant outcome of Qatar’s early investment in generating genomic knowledge on our population.

Second, this array is a first for the region, and can be adopted by neighboring countries whose populations share ancestry (and disease mutations) with ours.

And finally, it demonstrates the strength of collaboration across the biomedical research community in Qatar, as this truly took a multi-stakeholder effort over several years to achieve a viable product, which will completely transform disease screening for future generations.”

Researchers say the reason behind Qatar’s need for a population-specific screening device is due to the fact that “the Qatari population [has] a largely distinct set of genetic disorder risk variants, 85% of which are not seen in Western populations.”

“The important message here is that advancing precision medicine with genetic screening tools for a given population requires an understanding of the specific set of risk variants found in that population,” said study co-author Dr. Ronald Crystal, chairman of the Department of Genetic Medicine at Weill Cornell Medical College.

The QChip1 knowledge-base collaboration also included the efforts of Sidra Medicine and Hamad Medical Corporation.

Co-first author, Dr. Radja Messai-Badji, from Qatar Foundation’s Genome Program added, “when each entity serves its role within its niche speciality, it leads to well-designed and constantly evolving products for the area of precision medicine.”

The Study Breakdown

Many hereditary human disorders are birthed from pathogenic DNA variations inside single genes, which affects about one percent of the human population in total.

Single-gene disorders (SGD) could either be dominant or recessive. Even if both unaffected parents are carrying recessive SGDs, the child has a 25% chance of ending up affected by this pathogenic variant.

The NPJ Genomic Medicine article further stated that “the tribal nature of marriages, where individuals select a mate from a limited gene pool that are members of the same tribe, contributes to higher chance of homozygosity for a pathogenic founder variant derived from a common ancestor.”

Homozygosity is best-described as the genetic condition in which a person has inherited a similar DNA sequence for a specific gene from both parents.

The study also found that the “most pathogenic variants per genome were observed in the general Arab population”, which would mean that this study also concerns other Middle Eastern societies.

The researchers illustrated QChip1 screening by using the chip to study DNA from 2,707 Qatari individuals. WCM noted that through “this large sample of individuals, they identified a total of 32,674 distinct risk variants, with an average of 134 risk variants per individual.”

The researchers also found that these pathogenic variants were fairly Qatari-specific, which meant that only about 15% of them were detected in the comparative DNA samples from European Americans, South Asian Americans, African Americans and Puerto Ricans.

Also in the DNA samples from Kuwait, Iran and the UAE, only about “half of the detected Qatari variants were evident,” stated WCM.

Future Prospects for QChip1

Co-senior author Dr. Asmaa AlThani, chair of Qatar Genome Program at Qatar Foundation said that “differences between pathogenic variants in different countries are reported on a daily basis, which keeps driving us to pursue our work in genomics, and focusing on pathogenic evolution and potentially pathogenic variants.”

A large portion of SGD databases were gathered from the western population, which pushed Qatar to assemble a more inclusive screening to gather a database which exhibits Qatar-specific variants. This allows for further personalised and effective medicine.

Dr. Asmaa AlThani added that as researchers detect new pathogen variants specific to Qatar, the necessary institutions strive to advance the health care system on both a local and broader regional level.

In their report, the WCM noted that “in order to provide researchers and clinicians access to data for research, the QChip1 knowledgebase and the Qatar Genome Browser were constructed, and will keep expanding as more public data and literature from Qatar becomes available.”

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