Clinical application of whole exome sequencing: not (yet) ready for primetime.


DOI:10.1097/MOP.0b013e32835a1996 Extraordinary advances in sequencing technology have ushered in a new era in personalized genomic medicine. We now stand upon the precipice of a revolution in medicine wherein base pairs will become vital signs in the routine assessment of all patients. Even with the hyperbole surrounding it, it is likely that whole genome sequencing (WGS) will surpass our expectations in unlocking the mysteries of human health and disease. However, like many new technologies, the potential for widespread personalized genome sequencing has already presented ethical and technical questions and challenges that have yet to be adequately addressed. This is understandable, given the rapid evolution of genome sequencing, from a several billion dollar, decade-long, government-sponsored effort to an almost routine clinical test. The history of genome sequencing has unfolded before our eyes. It is remarkable that only a decade has passed since the completion of the Human Genome Project, which took 13 years and over US$ 2 billion [1]. Following this groundbreaking achievement, rapid advances in technology enabled massively parallel next-generation sequencing (NGS), allowing whole genomic sequences to be completed for a fraction of the time and cost of traditional Sanger methodology. Dr James D. Watson’s genome was the first complete human genome to be sequenced by NGS, and this project was completed in just 4 months and US$ 1.5 million in 2008 [2]. In the meantime, sequencing the protein-coding exonic sequences, so-called whole exome sequencing (WES), has emerged as an efficient, cost-effective alternative to WGS. Technology has continued to improve so that the once imaginable goal of sequencing an entire genome in a matter of hours for under US$ 1000 is close to becoming a reality ( home/about-us/news-gallery/press-releases/2012/ life-techologies-itroduces-the-bechtop-io-proto. html.html). WES has propelled a research boom that will likely exceed that of the 1990s that took advantage of microsatellites to map so many single gene disorders. WES overcomes many of the limitations of

DOI: 10.1097/MOP.0b013e32835a1996

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@article{Sutton2012ClinicalAO, title={Clinical application of whole exome sequencing: not (yet) ready for primetime.}, author={Amelia L M Sutton and Nathaniel H Robin}, journal={Current opinion in pediatrics}, year={2012}, volume={24 6}, pages={663-4} }