After 15 years of ear and skin infections, recurrent hospitalization, and ineffective treatments due to lack of a precise diagnosis, a 20-year-old Khalid was referred to clinical genomics and genetic counseling center at Al Jalila Children’s specialty hospital in Dubai. This new center provides genetic counseling to aid in accurately diagnosing patients and developing personalized treatment plans.

The results revealed that the patient has a rare, life-threatening immunodeficiency syndrome. Consequently, he was moved to another clinical center abroad, where he received an effective medical intervention that cured all the symptoms of his chronic illness.

A group of researchers from Al Jalila Children’s specialty hospital reported the patient’s story in their recent study of rare diseases in the Middle East. They have also said that around 60% of patients who tested positive for genetic conditions in their study were given new treatment plans, indicating the potential for clinical genomic testing to enhance healthcare in the region. 

The approach to tailor disease prevention and treatment plans for patients based on their unique genetic makeup, environment, and lifestyle is termed precision medicine. In recent decades, it has become an established part of healthcare systems in numerous countries worldwide.

SCARCITY OF DIAGNOSTICS AND COUNSELORS 

Unfortunately, the benefits of precision medicine have yet to be fully realized in the Middle East, with over 400 million people. Genomic diagnostics and counseling services like those offered in Al Jalila Hospital are scarce in the region, hindering access to these health benefits.

A team of researchers based in Saudi Arabia, Qatar, and the UAE have estimated that there are merely 40 genetic counselors in the Arab region, which equates to 0.1 per million people. Furthermore, even fewer certified clinical molecular geneticists are practicing in the Middle East, exacerbating the issue.

“Even if genomic diagnostic services were available, the tailored treatment plans are either unavailable or inaccessible to a large segment of the population due to its high cost,” says Mohamed Salama, Associate Professor at the Institute of Global Health and Human Ecology in the American University in Cairo, Egypt. 

“We lack large-scale genomic studies in the region that would allow scientists to categorize patients into various groups, enabling the customization of targeted therapies for each group,” Salama adds.

Historically, most large-scale genomic databases and studies were dominated by data obtained from individuals of European descent. This has left many other ethnic groups underrepresented and unable to benefit fully from precision medicine.

Although there has been a recent push for more diverse representation in genomic databases, individuals with Middle Eastern ancestry remain underrepresented, hindering progress toward precision medicine in the region.

“We need a push from within,” says Rifat Hamoudi, Professor of Molecular, Cellular & Computational Medicine at the College of Medicine at the University of Sharjah, UAE.

WHERE DO WE STAND?

He argues that each region has its unique disease demographics. By adopting precision medicine, the Middle East can prioritize the prevention of diseases that are prevalent in its population, such as metabolic diseases like diabetes and genetic disorders that occur due to high rates of consanguinity in the Arab region.

Where do we stand?

Natalie Zgheib, a tenured Professor at the Department of Pharmacology and Toxicology at the American University of Beirut, stresses the importance of regularly assessing the progress of precision medicine in the Middle East to identify areas for improvement.

She says that conducting recurrent evaluations can help pinpoint gaps in progress and identify areas where more targeted efforts are needed. In one of her studies that evaluated genetic and genomic research on breast cancer and diabetes produced by MENA institutions and published between 2000 and 2015, Zgheib and her colleagues found that few of the findings could be translated into useful clinical applications. 

That’s because most studies were conducted on small sample sizes, lacked diversity, and very few investigated how genes of Middle Eastern populations impact their response to medications. 

Zgheib adds, “The conclusion is that in terms of research, we are still lagging, very much behind.” She argues that to move forward, we need more large genomics studies investigating how unique genetic variations in our population affect disease susceptibility, progression, and treatment. Despite this, a recent study published in Frontiers in Public Health journal in 2021 reports that health expenditure and life expectancy have improved in the MENA region since 1995.

LACK OF FUNDING

Rana Dajani, professor of Molecular Cell Biology at Hashemite University in Jordan and the president of the Society for the Advancement of Science and Technology in the Arab World, believes that this indicates that policymakers in the region are concerned about health.

“There’s growing investment in health services, but not enough funding is allocated for the research needed to create a foundation for precision medicine,” says Dajani.

“If policymakers understood the political, social, and economic benefits of this innovative medical approach, we would soon witness a new era for precision medicine in the region,” adds Dajani. 

However, the lack of funding is not the only issue; there is also a significant shortage of experts in molecular genetics, bioinformatics, and computational biology required to establish and operate new genome testing technologies and analyze large genomic datasets for relevant clinical results.

Fowzan Alkuraya, a human genetics professor and principal clinical scientist, and senior consultant at King Faisal Specialist Hospital and Research Center in Riyadh, Saudi Arabia, believes that the region’s traditional brain drain of talented individuals relocating overseas in search of professional growth is the main reason for this shortage.

Moreover, some pivotal infrastructures for precision medicine are still underdeveloped in many countries in the region. This includes biobanks that collect and store biological samples and their associated data for research purposes.

In a research paper published last year in the Journal of BMC Medical Ethics, biobank managers from Egypt, Sudan, and Jordan revealed that they struggle to sustain their facilities due to scarcity of funds, well-trained personnel, and deficit awareness of their role among stakeholders, including policymakers and physicians.

Salama stresses that establishing central biobanks connected to national disease registries could revolutionize precision medicine by allowing researchers to analyze large amounts of samples and data to identify unique genetic factors that impact health and disease. 

Despite the various obstacles, experts remain hopeful about the progress made in several Middle Eastern countries.

In the last few years, several countries, including Qatar, UAE, Saudi Arabia, Turkey, and Egypt, have launched national genome projects to map their populations’ genetic material, paving the way for precision medicine. Research groups in UAE, Qatar, and Egypt, among others, have successfully constructed a reference genome from healthy people, which could be used to discover disease-causing genetic variations compared to the genome of patients of a certain disease. 

Extensive studies that have uncovered single mutations causing genetic disease have been conducted in several Gulf countries, along with other but fewer studies focusing on more genetically complex diseases like cancer. 

While challenges remain, experts believe these developments can pave the way for wider regional collaborations, build research capacity, and lower the costs of technologies.

“There is no question that precision medicine will no longer be a luxury. Policymakers will have to grapple with the fact that it not only saves lives but also saves money. The continuing decline in the cost of genomics will bring even resource-limited countries on board, including in the Middle East,” says Alkuraya.