Integrated Genetics unveiled its diagnostic assay for DNAtesting using high throughput mutational analysis in apresentation last weekend at a genetics meeting inMinneapolis.
The technology _ Multiple Allele-Specific DiagnosticAssay (MASDA) _ simultaneously can analyzehundreds of DNA samples for the presence of more than100 mutations in a single test.
Phase one of the test combines DNA probes, eachspecific to one mutation, into a single assay. Each probebinds to a sample only if the targeted mutation is present.In the second phase, for the positive samples, themutations are identified by removing the captured probeand subjecting it to modified DNA sequencing.
Integrated Genetics, a Framingham, Mass., division ofGenzyme Corp., expects to have MASDA up and runningin its laboratories for research applications within three tofour months, and available for clinical testing in thesecond half of next year, said Ann Merrifield, vicepresident, marketing and business development.
To validate the technology, Integrated Genetics analyzed500 patients for 106 different disease-related mutations inseven genes.
Some technologies, Merrifield said, allow for hundreds ofsamples, but they can be asked only a few questions.Others allow for lots of questions but take a long time.MASDA combines the ability to test many samples withthe ability to ask many complex genetic questions of eachsample.
"Theoretically there is no limit to the number ofmutations we can identify with the MASDA technology,"said Tony Shuber, the company's senior research scientistand manager of technology development. He conceivedand is developing MASDA.
"Until MASDA there has been no technology that wouldallow DNA testing for known mutations that could meetthese requirements for complexity and accuracy at areasonable price," Shuber said.
Initially, Integrated Genetics will use MASDA in theclinical lab setting to test for monogenic disorders, thenuse it for predispositional testing for adult-onset diseases.It also plans to work with others to establishmultinational data bases, and to establishgenotype/phenotype correlations in its clinical studieslaboratories. It also is talking to potential partnersregarding use in other diagnostic areas and furtherautomation of the procedure. n
-- Jim Shrine
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