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Quake Group Issued Patent for Detection of Fetal Aneuploidy with Next-Gen Sequencing

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By Monica Heger

The US Patent and Trademark Office this week issued Stephen Quake's group at Stanford University a patent for the detection of fetal aneuploidies using next-generation sequencing.

US Patent No. 8,008,018, titled "Determination of fetal aneuploidies by massively parallel DNA sequencing" covers "a method for determining presence or absence of fetal aneuploidy in a maternal tissue sample comprising fetal and maternal genomic DNA … [by] conducting massively parallel DNA sequencing of DNA fragments randomly selected from the mixture of fetal and maternal genomic DNA," according to the patent.

Stanford's Quake has previously licensed technology for aneuploidy detection to Verinata Health, which is developing a sequencing-based diagnostic test for Down syndrome and potentially other trisomies (CSN 5/4/2011) that it is planning to launch either late this year or early next.

Its test would compete directly with Sequenom's sequencing-based trisomy 21 test, which it plans to launch around the same time. Sequenom also holds intellectual property in the space and has previously said that it believes its IP is broad enough to prevent competitors from launching similar tests without first acquiring the rights — a claim that appeared to be strengthened by the recent licensing deal it struck with LifeCodexx to develop a similar test in Europe (CSN 8/17/2011).

Patent No. 6,258,540, "Non-invasive prenatal diagnosis," which Sequenom has licensed from Dennis Lo of the Chinese University of Hong Kong, covers "a method for detecting a paternally inherited nucleic acid of fetal origin performed on a maternal serum or plasma sample from a pregnant female."

While the '540 patent's claims don't specify using next-generation sequencing, the claim does cover performing a prenatal diagnosis on maternal plasma through "nucleic acid analysis."

Sequenom has since struck an additional licensing and collaboration agreement with Lo for intellectual property related to fetal whole-genome sequencing, and size-based genomic analysis of fetal nucleic acids (CSN 8/9/2011).


Have topics you'd like to see covered by Clinical Sequencing News? Contact the editor at mheger [at] genomeweb [.] com.