NEW YORK (GenomeWeb) – PerkinElmer said today that it is collaborating with Women & Infants Hospital (WIH) of Rhode Island to evaluate the performance of its Vanadis noninvasive prenatal testing system.
The technology, which PerkinElmer acquired in 2016 when it bought Vanadis Diagnostics, screens for trisomies 21, 18, and 13. But unlike existing NIPT technologies which require platforms such as sequencing or microarrays, the Vanadis platform measures fetal chromosomal trisomies in maternal plasma by labeling and counting specific cfDNA fragments using imaging. Vanadis is currently under development and not available for clinical use in the US, PerkinElmer said.
The study with WIH — which the company discussed in March — is called VALUE (Validation of a Lower Cost Aneuploidy Screen). It aims to test samples from approximately 2,650 women, most from an average risk pregnancy population, with additional high-risk cases added. The researchers are looking to determine how the Vanadis platform performs in terms of detection and false positive rates, turnaround time, associated costs, fetal sex determination, and quality metrics.
The study is being funded by PerkinElmer with an undisclosed amount, but WIH staff will be in charge of the design, implementation, analyses, and reporting. The hospital will serve as the primary study center and laboratory site. Fourteen enrollment sites across North America are currently participating in the study.
"All pregnant women should have access to reliable, low-cost NIPT as a follow-up to aneuploidy screening, but this has not previously been possible, as the current approaches are complex, have limited capacity and require the expertise of specialized genetic laboratories," Linh Hoang, vice president of reproductive health at PerkinElmer, said in a statement. "By incorporating novel technology and analytics, the Vanadis assay has the potential to fundamentally change the cost structure and workflow for NIPT and give more women access to cfDNA screening. Our solution is designed to make it simpler for any laboratory to provide high-precision NIPT with a fully automated platform that they can integrate into their current screening programs and workflow."
Glenn Palomaki — a professor of pathology at WIH and the Alpert Medical School of Brown University, and head of the VALUE study — told GenomeWeb in March that the equipment, bioinformatics, and license fees involved in current NIPT systems generally add up to more than $1 million, making them cost prohibitive, whereas the reagent rental model planned for the Vanadis system is something smaller hospitals and labs like his could more easily afford.
"We believe the technology will work," he said at the time. "What we are specifically focusing on is, 'Does it really require far less tech time? Instead of three to four techs to run 10,000 samples a year, can you do it with one tech? Does it use fewer reagents, less time to set up?'"