NEW YORK – PerkinElmer has started targeting laboratories in different geographies with its Vanadis system for noninvasive prenatal cell-free DNA testing, following the publication of a European clinical validation study this summer. Earlier this month, the company also started accepting clinical samples at its laboratory in the US and an affiliate laboratory in Malaysia, allowing potential customers to familiarize themselves with the technology prior to making a purchase decision. In parallel, the company continues to collaborate with a US hospital on another clinical validation study.
Unlike many other cfDNA-based noninvasive prenatal screening tests, the Vanadis NIPT assay only provides results for the three most common chromosomal trisomies, 21, 18, and 13. Sex determination is available as an option. PerkinElmer, which obtained the underlying technology through its acquisition of Swedish startup Vanadis Diagnostics in 2016, has touted the Vanadis platform as a reliable, easy-to-use, and cost-efficient NIPT option, setting it apart from next-gen sequencing-based NIPT assays that it says tend to be technically complex.
The system, which obtained the CE-IVD mark a year ago, consists of three units: Vanadis Extract for automated cell-free DNA extraction, Vanadis Core for rolling circle amplification and fluorescent labeling of chromosome-specific DNA, and Vanadis View for scanning and counting labeled so-called DNA objects. Results are analyzed using the LifeCycle risk calculation software. According to PerkinElmer, the system allows a single lab technician to process up to 20,000 samples per year.
"The idea is to make NIPT accessible," said Madhuri Hegde, CSO of PerkinElmer Genomics, by enabling large and small laboratories, including hospital labs, to run the assay in house. In contrast to NGS systems, which she said require significant technical expertise, "this really opens it up for every laboratory to adopt it." She said the system is most suitable for labs that anticipate running at least 40 samples per week.
PerkinElmer declined to disclose a list price for the Vanadis system, or whether it might be offered to customers under a reagent rental agreement.
In late October, the firm said it had installed or was about to install 19 Vanadis systems and was on track for 30 total installations this year. According to Hegde, most of the current systems are in Europe, and at least two European labs are already using the platform for clinical testing.
In August, company researchers, in collaboration with customers in Europe, published a clinical validation study in Prenatal Diagnosis, for which they analyzed samples from 1,200 singleton pregnancies, almost 760 of which were processed on a Vanadis system installed at a customer laboratory, Cerba Xpert in France. The study demonstrated 100 percent sensitivity and specificity for trisomy 21; 89 percent sensitivity and 99.5 specificity for trisomy 18; and 100 percent sensitivity and 99.9 percent specificity for trisomy 13, with a test failure rate of 0.4 percent. Hegde noted that the company can resolve 90 percent of the test failures by running the test again on the platform.
In the US and in Asia, the Vanadis system is currently sold for research use only, and Hegde said the company has no plans at the moment to get the platform approved by the US Food and Drug Administration.
In the meantime, PerkinElmer earlier this month started offering the Vanadis NIPT as a lab-developed test at clinical laboratories in the US and Malaysia – the CLIA/CAP PerkinElmer Genomics laboratory in Pittsburgh and DNA Lab in Kuala Lumpur. Prior to the launch, the two labs conducted their own validation studies, Hegde said.
Last month at the National Society of Genetic Counselors annual meeting, PerkinElmer presented results from the Malaysia lab's validation study, showing that Vanadis correctly called all 23 trisomy and all 207 normal samples, with two no-call results. In addition, fetal sex was accurately determined in all samples except one.
PerkinElmer declined to disclose a list price for the test it provides as a service in the US but Hegde said it is "significantly lower than what NGS-based NIPT is." She added that the company may also offer the test as part of a bundle with PerkinElmer's carrier screening and preeclampsia tests.
In addition to offering the Vanadis NIPT test to customers, the Pittsburgh and Malaysia labs will serve as demonstration sites for the Vanadis system, so "customers can come and see a living platform in action," she said. Customers can also test the platform by sending samples to the lab before they decide to invest in it. Finally, the sites will serve as overflow or backup labs for customers who have installed the Vanadis system in house.
Meanwhile, PerkinElmer is working on another clinical validation study with Women & Infants Hospital of Rhode Island that aims to test samples from 2,650 women and is scheduled to be completed in the summer of 2020. The study, called Validation of Lower Cost Aneuploid Screen (VALUE), was launched in 2017 and had 14 enrollment sites last year. It aims to recruit 2,400 women with low-risk and 250 with high-risk pregnancies. Hegde said results will be published next year.
The company is also working on enhancements to the Vanadis assay and is validating it in other settings. For example, the test is currently only available for singleton pregnancies but validation for twin pregnancies is ongoing, Hegde said. PerkinElmer is also evaluating it for sex chromosomal aneuploidies as well as for certain microdeletions and -duplications, though Hegde said the positive predictive value needs to be high, so results would be useful.
Longer term, PerkinElmer is also envisaging other applications for the Vanadis technology. The first one will likely be cancer, Hegde said, but the positive predictive value will be important. The company has also talked about considering the platform for Rhesus factor testing and for RNA detection.