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Revvity Launches NGS Panel, Workflow to Complement Current Newborn Screening


NEW YORK – Revvity has launched a next-generation sequencing-based panel and workflow for newborn screening that it hopes will complement existing screening programs, which largely employ biochemical testing.

With the assay, which is currently offered as a so-called minimum viable product (MVP) — an early-access version that could still be modified — and for research use only, Revvity is hoping to bring sequencing to the newborn screening space, where it is showing emerging utility.

"We are in the very early days of understanding how sequencing fits in the equation of newborn screening," said Revvity CSO Madhuri Hegde. "Our goal is really to empower the newborn screening laboratories to start looking at this technique as a confirmatory assay or as a complementary assay."

Revvity’s new NGS newborn screening workflow covers DNA extraction of dried blood spot samples, sample QC and quantification, automated library preparation, and sequencing, as well as data analysis and reporting.

Underpinning the workflow is a hybridization-based NGS panel designed to identify variants in over 390 genes that are relevant for newborn screening, according to Hegde.

"There was a lot of work that was put into selecting the genes to be put into the gene panel," Hegde said, adding that it was designed to be "globally adaptable and work hand in hand with the current newborn screening infrastructure."

The company’s clinical laboratory directors designed the panel with input from many newborn screening laboratories, she said, and it includes genes implicated in early-onset disorders that are currently covered by newborn screening.

Additionally, the panel contains genes the company has deemed to be important based on results from its internal healthy newborn genome sequencing study as well as from a systematic evaluation of 2,100 clinical genome sequencing index cases performed in Revvity’s clinical laboratory.

"Those two papers taught us a lot about what genes should go into this panel," Hegde noted, adding that the company plans to gather experience and feedback from early adopters, based on which it will continue to tweak the panel.

Labs that may not want to look at all the genes included in the panel can mask the genes at the analysis stage, she said.

For sequencing, Revvity has a partnership with Element Biosciences in place that incorporates the Aviti platform into the workflow. While Element’s instrument is "really suited to what we were trying to achieve here," Hegde said, the workflow can also be carried out on any other sequencing platform.

Another important pillar of Revvity’s workflow is the cloud-based data management and analysis software systems, Hegde noted. These include the laboratory information management system (LIMS) for secure data management, the primary and secondary variant analysis platform, and software for tertiary analysis and variant reporting.

The workflow can be adopted by clinical labs across the globe under appropriate compliance. Despite being designed as an "end-to-end" solution, it is also modular, Hegde said, meaning labs can adopt any component of it based on their existing infrastructure.

For labs interested in outsourcing parts of the workflow, Revvity's clinical lab offers a range of services, from delivery of a sample collection kit to the final report.

Revvity is not the only company eyeing the NGS-based newborn screening market; however, others are not targeting existing newborn screening laboratories. San Diego-based startup Fore Genomics, for example, has launched a whole-genome sequencing-based newborn screening service called Foresite 360 that targets parents of seemingly healthy babies who want to uncover their children’s potential predisposition to genetic disorders. Nurture Genomics, cofounded by Harvard medical geneticist Robert Green, also offers genome sequencing for healthy babies and children, according to the firm's website.

Besides the sprouting commercial interest, multiple large-scale research projects are underway to evaluate genome sequencing for newborn screening.

Before NGS, Revvity, formerly the life science and diagnostic business of PerkinElmer, had already been deeply entrenched in the newborn screening space by providing testing kits, equipment, and services using technologies such as tandem mass spectrometry as well as enzymatic assay and immunoassays.

"Revvity is best positioned to partner with the newborn screening labs because we have worked with the newborn screening labs globally," said Hegde. Additionally, she noted that Revvity's clinical lab in Pittsburgh has been offering an NGS-based assay for newborn screening confirmatory testing for several states in the US.

"I'm cautiously optimistic about the implementation of NGS into newborn screening," said Robert Steiner, a professor at the University of Wisconsin and a newborn screening expert, who stressed he was not speaking on behalf of his institution. "​​I think there is the opportunity to identify and treat hundreds of more disorders than we're currently doing, so I'm excited about it. At the same time, I think we need to be realistic and consider very carefully the potential harms and costs to society."

Commenting on NGS-based newborn screening in general, Steiner said there are still controversies and ethical concerns around the technology. For instance, whether or not to identify adult-onset conditions in the newborn period or how to deal with variants of uncertain significance remains to be settled, he said.

"The challenges in applying NGS technology to do more in screening are similar to those faced in diagnostic testing, but I would say they are even amplified in newborn screening because now we are talking about doing population screening, and we are talking about doing it in babies," said Steiner, who has been a consultant to the state of Wisconsin’s newborn screening program.

The wide implementation of NGS in public health labs "would not be a trivial undertaking" at this point, he said. Even though most screening labs in the US have been exposed to some genetic and genomic testing techniques, he added, NGS assays still require additional instrumentation while data storage and analysis can pose "a massive challenge."

Furthermore, NGS newborn screening would still be cost-prohibitive at this time to be rolled out on a population level, he said. While current newborn screening tests are generally in the $100 to $200 range, he said, the cost for NGS testing can run up to the "high hundreds of dollars." However, cost issues will likely be solved naturally by implementation and increased testing volumes, he added.

Despite these obstacles, Steiner said he still believes NGS newborn screening will take over the field eventually. "My guess is that it's inevitable that we will be doing genomic NGS newborn screening in the not-too-distant future," he noted. "I do think we'll be able to overcome those challenges, but we need to be thoughtful to do this."

Meanwhile, Hegde made clear that Revvity’s NGS workflow is "not a replacement" for the existing newborn screening infrastructure. "They are always going to remain complementary because the biochemical assays are very important in many of the metabolic conditions, as they are really acting as functional assays," she noted.

Hegde also agreed that cost is "a very important piece" for NGS’s uptake for newborn screening. However, she said it is difficult to put a number on the cost of implementing Revvity's new workflow, or parts of it, since it "depends on the lab and the region."

"We are in such early days of evaluation," Hegde said. "We are also trying to understand where all this is going."