Sequenom's noninvasive prenatal diagnostic uncovers signs of cancer in 40 women

Sequenom's Dirk van den Boom

Sequenom ($SQNM) has long depended on its noninvasive prenatal diagnostic test to drive growth and fuel expansion. But now, the company unveiled new results which show that its MaterniT21 test can detect signs of cancer in pregnant women, a potential game-changer as Sequenom looks to expand its market reach.

The San Diego, CA-based company said that MaterniT21, which uses a maternal blood sample to screen for fetal abnormalities, identified changes abnormal changes in 40 women and yielded accurate results in 26 cases, Reuters reports. Tests from Sequenom and other prenatal diagnostic companies such as Natera, Illumina ($ILMN) and recent Roche ($RHHBY) buyout Ariosa use sequencing technology to scan the mother's DNA and fetal DNA from the placenta, identifying fetal abnormalities such as Down's Syndrome. But as tumors shed their DNA into the bloodstream, the tools could also pick up on abnormalities that signify cancer.

Sequenom is still gathering data on women whose tests indicated abnormalities and is not aware of any false positive results, Dr. Dirk van den Boom, the company's chief scientific officer, told Reuters. But the tests are also raising ethical concerns, as Sequenom is weighing whether or not to tell women before they are screened that MaterniT21 could identify cancer. Van den Boom said the company has struggled about what to do with results, but favors disclosing the information.

Scientists are making headway on prenatal tests that can screen pregnant women for signs of cancer. Researchers at the University of Leuven in Belgium developed a blood test that can pinpoint Hodgkin's lymphoma after uncovering the illness in pregnant women. And Dr. Diana Bianchi of Tufts University told Reuters that noninvasive prenatal tests represent "the biggest clinical implementation of genomic medicine to date," with more than 1 million having been performed since 2011.

Meanwhile, Sequenom continues to forge ahead with its noninvasive prenatal diagnostic technology, looking to cash in on a market estimated to triple over the next 6 years to $3.6 billion in 2019. In January, the company said it would team up with Cypher Genomics to develop a noninvasive prenatal test using Cypher's advanced genome interpretation screening technology. The new tool will screen relevant fetal subchromosomal DNA variants in maternal blood to better uncover genetic abnormalities in the fetus.

- read the Reuters story

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