A step too far in new generation sequencing?

Publié le : 11 October 2013

 After whole genome sequencing, the spotlight turns to the whole exome sequencing of an individual, i.e. "all protein-coding genes". This test was recently introduced "into clinical practice for molecular diagnostics when a patient’s disorder is indicative of genetic origin". This test, which was performed on a cohort of 250 patients, was conducted in a clinical laboratory at the Baylor College of Medicine (Houston) and "managed to identify the underlying mutation in 1 out of 4 patients", for a cost of 7,000 dollars, mostly refunded to the tune of 80% by the medical insurance company. Nevertheless, a key question hangs in the balance, namely the cost-efficacy ratio. For editorial writer, Howard Jacob, Director of the Human and Molecular Genetics Center at Wisconsin Medical College, although "this success rate (25%) represents a marked improvement compared to the results obtained in genetic testing[…] used in current practice", this new type of sequencing nevertheless has its limits: "most probably [the] lack of knowledge of the action of genes and variants, hence the significance of many of the latter is uncertain". In response to the publication of these studies, Laurent Alexandre, Chairman of DNAVision, states that this sequencing "heralds the industrialisation of routine sequencing". 

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