Rubicon Genomics today announced that its PicoPlex™ linear whole genome amplification (WGA) technology was proven to be effective in an independent clinical study organized by the European Society for Human Reproduction and Embryology (ESHRE). At a press conference during its 26th Annual Meeting in Rome, ESHRE reported the success of its "groundbreaking proof of principle study" showing that a new approach incorporating PicoPlex could more accurately detect and characterize chromosomal abnormalities in human eggs. The new method of pre-implantation genetic screening (PGS) enables non-invasive testing of human eggs before fertilization by combining Rubicon's highly linear and reproducible PicoPlex WGA kits with BlueGnome's sensitive 24sure™ microarrays. The more rapid, comprehensive and accurate test protocol is designed to improve the success rate of in vitro fertilization (IVF).
"Rubicon is proud to have participated in this pioneering study, which we regard as the most compelling validation to date that our PicoPlex technology achieves the highest levels of reproducibility and reliability for testing single human cells," noted Rubicon CEO James Koziarz. "This advance has the potential to improve the chances of pregnancy for couples undergoing IVF and also opens new opportunities for research and diagnostic testing of single cancer cells and stem cells. Single cell analysis is expected to grow explosively in the next five years and we anticipate that PicoPlex will be a key player in that growth. We look forward to participating in prospective clinical studies to further validate these improved PGS procedures designed to enhance IVF success rates."
In the study conducted by its PGS Task Force reported at the ESHRE meeting, clinical centers in Italy and Germany determined that abnormalities in human eggs could be accurately detected 90% of the time using the Rubicon and BlueGnome technologies. Eggs were harvested from women undergoing IVF, and small fragments of maternal DNA (called polar bodies) that are naturally discarded during development of the egg were analyzed for genetic abnormalities. More than 226 eggs from 41 women were analyzed to identify the 37 eggs that had the correct number of chromosomes. Implantation of the fertilized normal eggs resulted in eight clinical pregnancies. While these results are considered encouraging, a larger, prospective clinical trial must be conducted to determine whether the new PGS method results in statistically significant improvements in pregnancy rate.
PicoPlex is a proprietary method of extracting and amplifying total DNA from single cells and other precious samples—producing microgram amounts of DNA for PCR, array and sequencing analysis in less than three hours. PicoPlex delivers the highest linearity and reproducibility, and the lowest background and allele dropout rates of any amplification kit. Rubicon manufactures PicoPlex for inclusion in the BlueGnome 24sure™ system for the IVF market, and also sells the kits directly for research and development studies in cancer, stem cell and microbiology applications.
Since its launch at the 2009 ESHRE Annual Meeting, PicoPlex has become the industry standard for analysis of single human cells and is currently used extensively by pre-implantation genetic diagnosis (PGD) and PGS testing labs, as well as in cancer research.
"We use the PicoPlex WGA technology because it reproducibly amplifies a large percentage of the genome every time," says Mark Hughes, Chief Scientific Officer of Genesis Genetics Institute, a leading international provider of fertility-related genetic testing services. "And the few genomic alleles that are underrepresented in the one-cell WGA are predictable, making the data sets easy to anticipate and accommodate. We especially like the predictability of this product when examining many alleles from single haploid and diploid cells."
Dagan Wells, Ph.D., FRCPath, in the Nuffield Department of Obstetrics and Gynaecology, University of Oxford, UK, commented, "Using PicoPlex we can combine highly accurate chromosome screening, using array CGH or SNP microarrays, with diagnosis of single gene disorders via PCR amplification plus mutation detection, or by using the SNP arrays. This distinguishes the approach from previous methods."