Concerns surrounding genome sequencing

Publié le : 14 March 2014

 A study published this week by a team at Stanford University (California, USA) focused on the capacity of genome sequencing for correctly identifying individual health risks.

It concluded that there is a considerable potential for saving lives based on the information gleaned from mutations associated with certain diseases but current technology does not enable the genome to be completely sequenced.  This has led to a sizing problem in terms of interpreting results.

The team, led by cardiologists Euan Ashley and Thomas Quertermous, sent its results to the Journal of the American Medical Association. They declared, amongst other things, that the two sequencing services they used, namely Illumania in San Diego, California and Complete Genomics in Mountain View, California, did not sequence 10 to 19% of the disease-related genes in the same way. Both services also contradicted themselves in 2/3 of cases regarding the presence or absence of worrying gene mutation.

The cost of sequencing and interpreting data amounts to $11,000 (8,000€), which is less than that forecast by the team. Stanford University has just launched a pilot programme offering this service to hospitals. The first people to benefit from this will be patients "who have reasons to undergo genetic testing".

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