The author declares that he has no conflict of interest.
Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience
Version of Record online: 17 MAR 2013
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 3, pages 203–208, September 2013
How to Cite
Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience..
- Issue online: 12 AUG 2013
- Version of Record online: 17 MAR 2013
- Accepted manuscript online: 1 MAR 2013 12:46PM EST
- Manuscript Revised: 19 FEB 2013
- Manuscript Accepted: 19 FEB 2013
- Manuscript Received: 3 FEB 2013
- cascade carrier testing;
- next-generation sequencing;
- preconception testing;
- premarital testing;
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.