Addressing Inequity in Medical Research: The Need to Expand Genomic Databases

by Dr. Khalid Fakhro    Contributor        Biopharma insight

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Precision medicine is fast developing, with genomics being a particularly promising field. As genomic medicine advances, we get steadily closer to being able to identify the root causes of diseases, develop more precise treatments, and even engage in preventative healthcare for illnesses that can be partially pre-empted by genetic testing.

The speed and cost of genome sequencing have dropped dramatically in the past few years, and as technology evolves, cutting-edge solutions such as AI are expected to improve processing times further.

However, in order for genomic medicine to make a truly global impact, we need to develop diverse databases of human genomic information. Without sufficient global representation, we will not have enough power to make breakthrough discoveries in health conditions and treatments. And while global genomic databases are promisingly expanding for this purpose, databases in the Middle East in particular need to be further developed.

 

Why does database diversity matter?

The underrepresentation of some populations hinders the development of equitable and effective healthcare solutions. As it stands, findings derived from existing databases will not accurately account for genetic variations linked to certain ethical groups. Disease susceptibility and treatment approaches can vary according to genetic makeup, and our current approaches generalize the findings of one group to others when, in fact, not everyone is genetically prone to the same diseases. Lack of database diversity can also result in less effective care, as the efficacy of certain treatments will vary between groups.

More than 400 million people make up the current Middle Eastern population, and yet they are among the most underrepresented in genome databases. Similarly, local pediatric databases are in particular in need of expansion as the needs of children can differ from those of adults. This lack of database diversity not only leads to inequality in healthcare but also limits medical research in these regions from making discoveries that serve both patients and the general population. If we want to achieve equity and inclusivity in medicine, we need to expand our reach.

 

The database development challenge

Broadening genetic databases is not a simple task; it relies on both external and internal research factors to succeed. For example, researchers building definitive databases need to ensure that the data they produce meets rigorous international standards and is available to global partners while protecting patient privacy and consent. The latter is important to foster a research mentality within the population, and we at Sidra Medicine (part of the Qatar Foundation) have found people to be very willing to participate in research, particularly with the understanding that the goal is ultimately to help others.

When it comes to funding, government and academic support are essential, along with partnerships with industry. A challenge of genomic research is to persevere and educate widely on the benefits of supporting the pursuit of innovation in fields like precision medicine. Increasing the international pharma and tech presence in the Middle Eastern region is therefore crucial to success and requires long-term vision. The global next-generation sequencing (NGS) informatics market is growing and can be expected to reach a valuation of $4.3 billion by 2030. As more tech and pharma companies expand into the region and partnerships increase, research bodies, big tech, pharma, and local populations will all benefit from groundbreaking research and treatment development.

 

Meeting the problem

With funding and participants in place, expanding genomic databases needs to attract the best scientists to engage with the research question being studied. We are already seeing efforts to this end worldwide to improve our understanding of health. Genetic profiling and the identification of biomarkers from big datasets are already revolutionizing the ways we diagnose and treat some forms of cancer. Similarly, in our recent BARAKA-Qatar study on the genomic architecture of autism spectrum disorder in Qatar, we established a regional resource on ASD research in collaboration with MSSNG, one of the largest ASD genomic repositories in the world. Nevertheless, there is a long way to go in the process of making genome databases representative of global populations.

Ultimately, ensuring every patient has access to the care they need across the global community is the overarching goal. On a more local level, working to expand databases in Qatar means we can make discoveries that serve both patients and the general population on a daily basis, give children in Qatar access to groundbreaking treatments, and provide databases for research that are beneficial to individuals of Arab ancestry living around the globe.

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