Sequenom and Illumina join forces for Down's syndrome test

12 July 2011

Sequenom, the company that owns most of the intellectual property relating to non-invasive prenatal diagnosis, has signed a three-year deal with DNA sequencing giant Illumina.

Sequenom holds commercialisation rights for techniques of non-invasive prenatal diagnosis based on the identification and analysis of fetal DNA and RNA from maternal blood samples (see previous news), developed by Professor Dennis Lo. The company has been trialling a new test for Down’s Syndrome (trisomy 21) that could offer vastly improved (safer, earlier) diagnostic testing (see previous news); the cost and speed of sequencing are important factors in developing a suitable market-ready product.
 
Now Illumina will supply sequencing equipment and materials to Sequenom over a three-year period and work with them ‘toward the submission for regulatory approval of an in vitro diagnostic product for the detection of fetal chromosomal abnormalities’ in the US.
 
Comment: This partnership may signal rapid development of the long-awaited commercial non-invasive test for Down’s Syndrome. Other applications that capitalize on the combination of free fetal DNA detection with cutting-edge sequencing methods could follow; Lo has already shown promising results for the diagnosis of a recessive genetic disorder (see previous news). Application of non-invasive testing within health systems (in addition to any direct-to-consumer testing) could have a major impact on antenatal care; see 2009 PHG Foundation report for overview.
 

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