100,000 seems to remain the magic number for human genome sequencing milestones, as Saudi Arabia announces plans to create a health linked database of 100,000 genomes over the next five years.
The Saudi Human Genome Program aims to underpin research into links between genetic variants and disease and create a basis for the development of more personalised medicine, including scope for more prenatal and premarital screening for rare diseases to decrease the burden of birth defects.
Of note, the technology that is to be used for the sequencing in fifteen different genome centres across Saudi Arabia, Life Technologies’ Ion Proton™ DNA sequencers, are approved for research use only, and not for diagnostic purposes. Life Technologies is also to provide ‘solutions and services for operations and informatics’ at the centres.
Dr Mohammed Bin Ibrahim Al Suwayl, president of the King Abdulaziz City for Science and Technology (the Saudi Arabian national science agency that is funding the project) said: "We have clear strategy and policy of the importance of science to a knowledge-based society and we believe the Saudi human genome programme will help shape the understanding of health and disease".
Comment: Although the Saudi 100,000 genomes project is being established initially as a research programme, as opposed to integration within a health service as for the UK equivalent, they clearly have clinical application firmly in mind. Birth defects remain a significant cause of childhood mortality, disability and ill-health in many middle Eastern populations, often as a result of rare inherited diseases (including β-thalassaemia and sickle cell anaemia), so concerted moves towards more pre-conceptual and prenatal genetic screening could have a substantial impact. The data will also contribute to global understanding of the differences and similarities between the genomes of different populations.