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Progress in non-invasive testing for Down's Syndrome

Report of a story in the news   |   By Dr Philippa Brice   |   Published 10 January 2011

Sources: Press release, Businesswire, AsiaNews

The US-based company Sequenom has said it will begin a clinical validation study for a non-invasive prenatal test for Down’s Syndrome (trisomy 21) this month.

Sequenom CEO Harry Hixson said it was "an important step in confirming the trisomy 21 test performance in a large sample cohort" following positive results from a recent verification study. The SensiGene T21 test uses next-generation sequencing technology combined with the technique for identification and analysis of fetal DNA from the mother’s blood pioneered by Professor Dennis Lo of the Chinese University of Hong Kong; Sequenom holds much of the intellectual property (IP) rights for the commercial use of this method. Market launch of an earlier test for trisomy 21 (SEQureDx) by the company, originally due in 2009, was delayed - to the frustration of clinicians and patients around the world - and it appears to have been superseded by the current version. 


Professor Lo continues to develop the innovative technique for new applications (see previous news), and the future for safe, early prenatal diagnosis looks bright. Hong Kong has a growing reputation for genomic research and development, thanks both to internationally renowned individuals and facilities, not least the Beijing Genomics Institute (BGI) genome sequencing centre based there. BGI Hong Kong, R&D centre for theShenzhen-based BGI, will reportedly have the capacity to sequence 1,300 human genomes a day. 

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