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Exome sequencing gives cheaper, faster diagnosis in heterogeneous disease
Date:6/24/2012

t fast and accurate diagnoses can be made. Even if there is no treatment available, such diagnoses can help parents, patients and clinicians to make well-informed decisions on treatment and care, as well as being able to plan for the future."

A further advantage of the technique is its flexibility. If a new, clinically relevant gene is discovered, it can be added to the testing list and the data reanalysed if necessary. There are limits as to what exome sequencing can do, the researchers say, but these technical difficulties will diminish as the technique matures and evolves, and for now the fact that so many patients that can benefit from the technique, as opposed to time-consuming and costly Sanger sequencing strategies, easily outweighs these disadvantages.

"We need to be able to reduce the price of the exome test yet further before we can offer it more widely", Dr. Nelen will conclude. "In the future I am sure that genome sequencing will become cheaper, and this is really the gold standard; it provides a single test that detects all possible pathogenic genetic variation, whereas exome sequencing still misses mutations due to its more limited nature. But with whole genome sequencing currently costing on average 10 000 and an exome test between 10 and 20 times less we can see significant cost savings, and the less complex nature of the test means that diagnostic results can be available much more quickly. Genetic diagnosis is becoming more and more important in the clinic and we believe that, as it develops, the exome technique will be one of the first tests to be considered by a doctor where a genetic disease is suspected. "
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Contact: Mary Rice
mary.rice@riceconseil.eu
European Society of Human Genetics
Source:Eurekalert

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