A new article has been published in Nature Genetics which discusses the potential and challenges faced by the Greater Middle East (GME) in terms of genomic research on rare diseases.
The GME region is unique in terms of genetic diversity, largely driven by a long history of migration, environmental bottlenecks, and high consanguinity rates. Largely as a result of the latter, genetic disorders which are rare in the rest of the world are more prevalent in the GME, sometimes to the point of being considered common. As such, the region has great potential to yield new findings in the field of genomics, further demonstrated by the initial identification and documentation of multiple rare diseases in the GME.
Despite these advantages, genomic research in the GME is challenging due to cultural attitudes, funding limitations and expertise gaps, and an inconsistent regulatory landscape. Cultural stigma surrounding genetic disorders, language barriers and low genetic literacy can make patients reluctant to participate in research activities. It is therefore vital to ensure that studies are designed using culturally sensitive methodologies, particularly when topics such as endogamy or polygamy will be discussed.
Beyond cultural considerations, the region has become unattractive for long-term research investments due to geopolitical instability and economic uncertainties, limitations which are compounded by gaps in technical expertise. Genomic research must also overcome the heterogeneity of national policies, since specific communities of interest typically transcend modern borders. Regional cooperation is therefore a necessity in order to conduct uniform studies and facilitate data collection and analysis.
Despite these challenges, there are a number of ongoing genomic initiatives in the GME which are contributing to the global knowledge on genetic disorders. For example, the Center for Genomic Discovery in the United Arab Emirates has made strides in novel gene discoveries and resolving undiagnosed cases, while the Moroccan Human Mutation Database and other North African initiatives are providing insights into the region’s genetic landscape.
Looking forward, the article identifies several opportunities which could help expand genomic research in the GME. Actions such as increased implementation of public-private partnerships, investment in regional centres of excellence, and developing a regional framework for health data sharing could help facilitate research and advance understanding of rare diseases for both the GME and the rest of the world.
