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Personalized translational Genomics and Stem Cell research in the long-term have major benefits in the society towards the development of new knowledge-based economy (biotechnology production, investment in technology) and the diagnosis, prevention and treatment of many diseases, e.g. cancer, diabetes, neurological diseases & others. Now that we have high density single nucleotide polymorphism (SNP) genomic information available at affordable prices for clinical applications, and with the $1000 genome not far away, we are encountering challenges to the implementation of personalized translational medicine. For example, we recognize that the sequence of the genome is only a part of the information required, and additional “omic dimensions” such as transcriptomics and epigenomics must be integrated. In addition, association data on large and adverse populations across these dimensions will be critical to attain highly predictive and personalized diagnostic information.
In Saudi Arabia like other countries in the developing world first cousin marriages account for almost 60-70% of all marriages, leading to uniquely common disorders. A review of our patients files over 15 years period, documented more than 150 varieties of neurodegenerative disease among 2,000 children; 27 of which constitute more than half of these files. Some autosomal recessive disorders are common e.g. sickle cell anemia and thalassaemia. Others are unique e.g. Al-Aqeel-Sewairi syndrome. Some others are diagnostic challenges, like mitochondrial disorders of which lactic acidosis in the new born is the most common, for which no standard treatment is available. Therefore adapting strategies for the diagnosis and the management of these patients is the most challenging, not only from the clinical aspects but from the psychological aspects.
For the last seven years pre- implantation genetics diagnosis and newborn screening for genetics metabolic disorders are the most important preventive programs in Saudi Arabia. The Stem Cell Therapy Program was also established at King Faisal Specialist hospital and research centre with launching of ten projects.
These rapidly changing technologies which involve human subjects raise complex ethical, legal, social and religious issues. For example the field of cloning, stem cell research and pre-implantation genetics diagnosis causes debate and challenges not only among scientists but also among ethicists, religious scholars, governments and politicians. There is no consensus on the morality of human cloning, even within specific religious traditions. In countries in which religion has a strong influence on political decision making, the moral status of the human embryo is at the center of the debate. This ethical debate will need to produce acceptable policy and regulatory compromises so that the regulatory burden can be reduced and investors' risk aversion can be overcome.
In conclusion; personalized translational medicine should not be limited to diagnostic and prognostic approaches, and must include personalized therapeutic strategies taking into account the psychological aspect of each family in these challenging disorders. From the various genetic techniques available, each country should adopt strategies most suitable to its genetic needs and should prioritize the programs to be used in prevention and biotechnology research that is consistent with the ethical, social and religious values, in the presence of the challenges of having resources and expertise, a based among others. Therefore we will explore the challenges as well as the progress in the implementation of personalized translational genomics in the clinical setting, including diagnostic, and preventive strategies, e.g. pre-implantation genetic diagnosis and new therapeutic strategies like stem cell therapy and their applications for the development of knowledge- based economy.
Key Words: Genomics, New technologies, Prevention, Personalized Translational Medicine, Knowledge- based economy.
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