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Clin Genet. 2013 Sep;84(3):203-8. doi: 10.1111/cge.12131. Epub 2013 Mar 17.

Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience.

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Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.


Consanguinity is practiced by around one tenth of the world population but its global distribution is far from uniform. In countries where consanguinity is common, a corresponding increase in the frequency of autosomal recessive diseases is usually observed owing to increased risk of homozygosity for ancestral haplotypes (autozygosity or identity by descent) that harbor pathogenic alleles. The burden of these diseases becomes more apparent as the healthcare system makes gains in its fight against communicable diseases in these countries. Recent advances in molecular genetics make it possible to leverage the mechanism by which consanguinity predisposes to the occurrence of autosomal recessive diseases in order to uncover the causal mutations at an efficient and cost-effective way compared to outbred populations. The identification of these mutations at an unprecedented scale has the potential to significantly reshape the practice of clinical genetics in these populations and to offer opportunities for innovative public health policies. This review discusses the impact that new genomic tools have had on a sample patient population and how they can inform future public health policies in ways that might be relevant to other consanguineous populations.


PGD; autozygosity; cascade carrier testing; exome; homozygosity; next-generation sequencing; preconception testing; premarital testing; termination

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