March 29, 2010

Sequencing system to increase accuracy, reduce genetic test cost

A new “next-generation” DNA sequencing system will allow Emory geneticists to greatly increase screening capacity, provide greater accuracy in detecting mutations, and reduce the cost of genetic testing.

The Applied Biosystems SOLiD system will enable Emory Genetics Laboratory to analyze multiple genes at the same time, making it easier to analyze disorders with many possible candidate genes. Identifying genetic mutations is important for confirming a diagnosis, genetic counseling, risk assessment and carrier screening.

The current gold standard for genetics sequencing technology allows geneticists to sequence approximately 800 megabases per day. A megabase measures the length of DNA fragments and is equal to 1 million nucleotides (segments of DNA made up of the chemical bases A,C,T,G). The new technology will generate more than 6,000 megabases per day. The instrument also uses two-base encoding, which means each base is sequenced twice, providing greater accuracy and confidence in detecting mutations.

“This new sequencing capability will help lower the barrier to genetic testing for complex disorders and will be an important step in ending the diagnostic odyssey that families now face,” says Madhuri Hegde, senior director of Emory Genetics Laboratory.

“For example, the use of next generation sequencing technology will enable us to offer panel testing, at a reasonable cost, for disorders such as X-Linked Intellectual Disability, a disorder for which many genes have been implicated. The more of these genes we can analyze, the better our chances of finding what is causing the disorder.”

Emory Genetics Laboratory is an integrated clinical genetics testing laboratory, specializing in molecular genetics, cytogenetics and biochemical genetics.

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