Fall 2011

Novel Methods for Genetic Testing

Can Help Eliminate Genetic Mutations

Thanks to Dr. Noam Shental's novel research for screening rare mutations in large population groups, accurate and economical genetic testing which can be made available to everyone is getting closer at hand.

Today, genetic testing is largely done by individual sampling. This is time consuming and expensive. Most health systems do not budget for these tests, unless there are 'extenuating circumstances.' If, for example, it is known that a particular group is at higher risk for a certain disease, then that group may be more carefully followed. Take for example, Tay-Sachs disease among Ashkenazi Jews. One organization, Dor Yeshorim, also known as the Committee for Genetic Diseases, a New York-based organization has made major strides in eliminating the incidence of Tay-Sachs among the ultra-Orthodox population, through its simple, sometimes controversial genetic testing program.

But, what if there were a simpler, more effective, significantly less expensive way to handle genetic testing? Not by any one organization, but rather through a government or private health system that was available to all? What if you could literally test everyone, while paying for but a handful of tests? This is closer at hand than you think.

Dr. Noam Shental, senior faculty member in the Open University's Computer Sciences Division, joined forces with Dr. Amnon Amir of the Weizmann Institute, Dr. Or Zuk of the Broad Institute of MIT and Harvard and Dr. Yaniv Erlich of MIT's Whitehead Institute for Biomedical Research. Together they came up with an innovative system -- exceedingly inexpensive, rapid and ultra-efficient -- for conducting genetic tests to uncover rare mutations responsible for diseases and disabilities in large population groups.

Cutting Edge Thinking

They have been able to do so by fusing, for the first time, cutting edge technologies from two different scientific disciplines: the novel mathematical theory of Compressed Sensing with a new technology in the field of genetic sequencing, dubbed Next Generation Sequencing technology to test for rare mutations among large groups.

Rather than checking the DNA of every individual being tested, scientists can now perform group testing. They can take a random selection of individuals from a large group, pool their DNA and test it exactly as they would for a single individual. Their DNA is placed in one test tube. They repeat the procedure a second time (some individuals may overlap), and then a third time, etc. Based on the results of a very small number of such pools, the math of Compressed Sensing enables you to infer information about each of the individuals from the large group tested.

How is this possible? Next Generation Sequencing Technology deciphers the genetic sequencing within a genome, and the math behind this is called compressed se(quen)nsing, which explores the concept of sparseness in nature, whose ramifications are manifold.

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