As genetic testing becomes increasingly preemptive and predictive, healthcare institutions are advocating for genetic screenings to reduce the prevalence of certain diseases, enable early intervention and devise suitable treatment plans. Particularly in young couples, prior testing helps identify risks of genetic conditions the newborn could possibly inherit. In pregnant women, genetic screening helps detect possibilities of congenital disorders, allowing professionals to formulate the needed healthcare solutions to prevent any complications.
The genomic field in the Middle East is undergoing rapid transformation in terms of research, screening, testing, treatments and medicine. Premarital, prenatal as well as newborn screenings are now conducted in Saudi Arabia and the UAE, with local capacities and capabilities constantly being optimised and improved to meet the requirements of its population.
Dr. Fowzan Alkuraya, Chairman of Transnational Genomics at King Faisal Specialist Hospital and Research Centre (KFSH & RC) in Saudi Arabia, said that the region has an increased frequency of a subset of genetic diseases known as autosomal recessive disorders that occur when a patient inherits two copies of mutated genes from their parents. The research centre specialising in Genetics at the hospital found that autosomal recessive disorders cause many cases of intellectual disability and developmental delay in children. He further stated that some genomic diseases such as sickle cell anaemia and thalassemia are commonly found in the region, while others are so rare that most doctors may have never heard of them.
The Centre also provides some of the most advanced genetic services including genotyping, expression analysis, bioinformatics, molecular karyotyping, and next-generation sequencing services.
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As part of its Vision 2030, the Saudi Genome Program was introduced with the intention of using advanced genomic technologies to provide better diagnosis, therapy and prevention. The programme will include implementation of premarital and newborn screening, cancer screening and targeted therapy, and better management of other multifactorial genetic diseases such as diabetes and loss of vision/hearing.
The UAE also launched the National Genome Strategy, aimed at creating a comprehensive framework of laws and regulations to support the development and implementation of genomic programmes, improving public health priorities and wellbeing in the UAE. Over the next decade, the program will accelerate solutions for personalised, preventive and precision medicine to combat chronic, genetic and rare diseases.
Over 400,000 citizens have already submitted cheek swabs or blood samples for analysis with the aim being to collect one million samples. Automated sequencing machines will provide information about an individual’s genetic makeup based on the samples, allowing doctors to understand the kind of treatment required to be administered.
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Dr. Alkuraya believes that genomics will continue to play an integral role in the evolution and innovation of healthcare and medicine and that the study of human genomics is not only limited to hereditary diseases, as the human DNA interacts with that of numerous other organisms, including plants and pathogens.
“Genomics is, and will remain, an invaluable interdisciplinary field that can improve the protection of biological ecosystems by enabling cost-effective health strategies that will enhance the well-being of populations through early disease detection, timely intervention, and development of precision and individualised medicine like never before,” he said.
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