Sequenom Announces Positive Data on Down Syndrome Detection and Unveils DNA Approach to Prenatal Diagnostics
News Feb 02, 2009
Sequenom, Inc. has announced new positive data from the prospective clinical studies using the Company’s noninvasive SEQureDx™ technology, enabling the detection of fetal aneuploidy from maternal blood.
The data presented consist of 459 new, high prevalence samples from the prospective, blinded studies performed at Sequenom, bringing the total number of samples studied to 858. Based on the results from the total study samples, including samples as early as 8 weeks of pregnancy, the Sequenom SEQureDx RNA-based technology demonstrated a 100% positive predictive value (PPV) and a 99.9% negative predictive value (NPV).
According to Sequenom, the SEQureDx technology achieved a better than 99% detection rate, with less than a 1% false positive rate. The current standard of care, screening tests, perform at less than a 99% detection rate; however, statistically, if these screening tests could perform at a 99% detection rate, their false positive rate would be in the 10% to 25% range. SEQureDx compares favorably to the current invasive procedures, such as amniocentesis.
In addition to data on the RNA-based technology, the Company unveiled a technology which further enhances Sequenom’s SEQureDx technology. This new DNA approach has demonstrated in early studies universal ethnic coverage, high sensitivity and specificity, and the ability to detect Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) in a single test. This technology is being developed as a “reflex test” for unresolved results from the current SEQureDx Trisomy 21 technology will be available at the time of the launch of the Trisomy 21 laboratory developed test (LDT) in June 2009.
Genetic Discovery Helps Determine the Difference Between Aggressive & Benign Bone TumorsNews
The first genetic marker for the bone tumor, osteoblastoma, has been discovered. Whole-genome and transcriptome sequencing of human bone tumors revealed that a genetic change that affects the transcription factor, FOS, is a hallmark mutation of osteoblastoma. The results will help clinicians correctly distinguish benign osteoblastoma tumors from aggressive osteosarcoma tumors and direct the correct treatment.READ MORE
Improved Method for Isolating Extracellular RNANews
In a breakthrough that could lead to powerful new ways to diagnose and track a wide range of medical conditions, scientists at The Rockefeller University have devised an improved method for isolating and identifying tiny fragments of RNA in human blood products.READ MORE
Giant Viruses Invent Their Own GenesNews
Three new members have been isolated and added to the Pandoravirus family. This strange family of viruses, with their giant genomes and many genes with no known equivalents, surprised scientists when they were discovered a few years ago. This new study notes that pandoraviruses appear to be factories for new genes – and therefore new functions.