New Data at ACMG Shows Cypher’s Software Can Automate Interpretation of Genetic Variants to Advance Non-invasive Prenatal Testing
SAN DIEGO – March 27, 2015 – Cypher Genomics, Inc., the leading genome informatics company, today announced new data showing that, compared to a panel of experts, the Company’s MantisTM technology provided highly equivalent interpretations of whether certain genetic abnormalities were likely to cause disease, and did so in a fraction of the time. Cypher’s Mantis software technology could pave the way for more comprehensive genetic analysis in non-invasive prenatal testing (NIPT) by enabling automated interpretation. The data were presented at the 2015 ACMG Annual Clinical Genetics Meeting, which is being held March 24 to 28 at the Salt Palace Convention Center in Salt Lake City, Utah.
“For many reasons, including the clear clinical interpretation they afford, non-invasive prenatal testing has focused primarily on whole chromosome events like trisomy 21, which causes Down’s syndrome,” said Adam Simpson, president and COO of Cypher Genomics. “However, numerous smaller chromosomal variations with equivalent or worse consequences are more difficult and time-consuming to characterize via manual curation but could be rapidly classified with our automated approach.”
Often not detected until after birth, these copy number variants are associated with significant risks of morbidity and mortality and are seen more frequently than whole chromosome aneuploidies. Collectively, whole chromosome events account for approximately 30 percent of all live births with a chromosomal abnormality. Genetic variations that occur within a chromosome, such as copy number variation (CNVs), account for the remaining 70 percent of live births with chromosomal abnormalities. Intra-chromosomal variations, like CNVs, are more difficult to classify as disease causing, because similar diseases may be caused by a variety of different mutations.
For this study, 91 detected CNVs were manually curated by working groups of genetic counselors and clinical lab directors. The detected CNVs comprised both duplications and deletions, spanning a range of ~1-77 megabases in size. The initial expert review resulted in 59 of 91 CNVs classified as pathogenic or potentially pathogenic. The remaining 32 were considered variants of unknown significance (VUS).
A comparison of the expert’s opinions to Mantis’ automated interpretations showed a high concordance, suggesting Mantis could provide a scalable and automated solution to reporting clinically relevant CNVs. Mantis also was able to characterize more of the CNVs, reducing the number of VUS and highlighting the potential for increased diagnostic information in NIPT via automated classification.
“We developed Mantis to overcome the genome interpretation challenge in genetic testing,” said Ali Torkamani, Ph.D., co-founder and chief scientific officer of Cypher Genomics. “The combination of the rapid, automated interpretation generated by Cypher’s Mantis technology, along with the experience and judgment of a clinical lab director, could provide more comprehensive and clinically relevant information to physicians.”
About Cypher Genomics
Cypher Genomics is a leading genome informatics company offering a highly accurate, rapid and robust interpretation software solution for users of human genome sequencing. The proprietary, automated genomic interpretation platform allows clinical laboratories to tune Cypher Genomics’ market leading sensitivity and specificity profiles to develop molecular tests for diagnostic and prognostic use and pharmaceutical companies to discover biomarkers from whole genome sequence data in sample sizes typical of early stage drug development studies. Through MantisTM, the genome interpretation software as a service offering, and CoralTM, a biomarker discovery service, Cypher Genomics can improve health care and reduce costs by facilitating improved diagnostic accuracy and earlier interventions, optimizing therapeutic approaches and reducing adverse drug reactions. Cypher Genomics is located in San Diego, California.