The analysis phases of sequencing, an ethical problem

Publié le : 16 November 2012

With the techniques for sequencing the genome improving all the time and becoming cheaper and faster, it is possible today to "imagine new applications for sequencing, such as assistance in diagnosing patients." However, the time needed for analysing the data produced by this sequencing is an obstacle to this. 

For example, the sequencing may enable the detection of many genetic diseases in newborn babies, as "nearly one third of them admitted into intensive care have a genetic disease. However, because a complete panel of clinical symptoms is a complicated task, it is often difficult to draw up a diagnosis." Thus, "the (rapid) sequencing of the genome could help clinical practitioners to put a name on the condition, or on the gene responsible for it, in newborn babies." On this subject, "the team of S.F Kingsmore has developed a specific tool for interpreting the sequencing data […] [which makes it possible] to analyse the genome by concentrating on a sub-group of genome regions linked to certain genes that may be responsible for the clinical signs that have developed." Moreover, "this technique reduces to 50 hours, instead of 4 to 6 weeks, the overall time needed for sequencing the genome and for the bioinformatic analysis concentrated on the suspected genetic disorders.

In recent years, the acceleration of the sequencing of genomes has led to the growth of many companies proposing "a service for the interpretation of these data." However, the article points out that "these companies are based on the sharing of the information on these genomes, which raises a real problem concerning the protection of data, so necessary in the medical field." So, "even if these techniques enable doctors, even non specialists in genetics, to use the genome for a diagnosis, it is still very important to protect the data of patients and above all to explain these genetic data to the patients, as this information could have a significant psychological impact."

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