Illumina is set to start selling a scaled-up version of its VeriSeq noninvasive prenatal testing (NIPT) analysis software to clinical labs in the European Union. The latest iteration handles batches of 48 samples, three times as many as was possible using the old software.
Sales of the new version are set to begin now Illumina has declared the conformity of the software with the IVD Directive—EU legislation covering in vitro diagnostics—and applied the CE mark to the product. VeriSeq looks for abnormal chromosome counts in genome sequencing data derived from cell-free DNA fragments found in the blood of women after 10 weeks or more of gestation.
The expanded version of the software furthers the objective of the original product, namely to make it possible for more clinical labs to offer NIPT services. Illumina’s 16-sample VeriSeq tried to achieve this goal by enabling labs to provide NIPT without having in-house bioinformaticians and dedicated infrastructure. The latest version builds on this platform with new features intended to make NIPT viable for more clinical labs.
By tripling the sample capacity of the software, Illumina thinks it can enable clinical labs to boost throughput while driving down the cost of NIPT.
“With this software, Illumina is enabling more clinical laboratories to implement NIPT testing efficiently and affordably in-house, increasing overall workflow efficiency and reducing the costs of testing,” Illumina VP Jeff Hawkins said in a statement.
Each 48-sample run takes five hours on an onsite server, a timeline Illumina sees opening the door to one-day turnarounds from sampling to results.
The latest version of the VeriSeq software also adds paired-end sequencing, a process in which both ends of each DNA fragment are analyzed. Illumina thinks this will enhance the software’s ability to differentiate between maternal and fetal cell-free DNA and, in doing so, improve the signal-to-noise ratio of the assay.
With the software now cleared for sale in the EU, Illumina’s next step is to put together its VeriSeq NIPT Solution. This offering will include CE-IVD marked assay specific reagents.