Cypher Genomics, Inc., the leading genome informatics company, and Sequenom, Inc. (NASDAQ: SQNM), the leading molecular diagnostics company, today announced a development agreement for next generation noninvasive prenatal tests (NIPT). Through this agreement, Sequenom will utilize Cypher's genome interpretation technology, called Mantis™, to advance analysis of clinically-relevant fetal sub-chromosomal variants detected in maternal blood. Often not detected until after birth, sub-chromosomal variants comprise greater than 50 percent of rare chromosomal abnormalities beyond the more common aneuploidies and are associated with significant risks of morbidity and mortality.
"We are excited to announce this development agreement with Sequenom, the pioneer of noninvasive prenatal testing," said Adam Simpson, president and COO of Cypher Genomics. "We have been working closely with Sequenom to validate our automated Mantis technology to classify clinically-relevant sub-chromosomal genomic structural variations, such as copy-number variations (CNVs), in circulating fetal DNA from maternal blood samples, which may have applications in the development of a new, more comprehensive NIPT offering."
Sequencing-based NIPT has been largely focused on whole chromosome events, such as aneuploidies and trisomies. Sub-chromosomal structural variations, such as microdeletions and microduplications or CNVs, which may occur de novo, are more difficult to detect and classify but represent a larger proportion of clinically relevant abnormalities. The physical boundaries of CNVs implicated in similar diseases can vary greatly, creating a substantial challenge in accurately classifying the pathogenicity of these structural variations for use in NIPT. As an automated and scalable solution, Cypher's proprietary Mantis technology can help overcome the genomic interpretation challenge and can potentially support Sequenom's development of a next generation NIPT offering.
"Given the clinical relevance and frequency of microdeletions and microduplications in the general population, detecting and classifying sub-chromosomal genomic variations would broaden the clinical utility of our prenatal testing offerings," said Dirk van den Boom, Ph.D., chief scientific and strategy officer of Sequenom. "In our continued effort to advance pregnancy care, next generation NIPT offerings will expand the opportunity for physicians to provide parents with more comprehensive information to improve pediatric outcomes."
Dr. van den Boom concluded, "We have been impressed with the performance of Cypher's industry-leading Mantis technology in our research validation studies, and we look forward to advancing our collaboration with Cypher Genomics as we develop a next generation NIPT offering and expand into new areas outside of prenatal testing."
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