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MRD If You Please: Diagnostics Targets Minimal Residual Disease

By Allison Proffitt 

January 19, 2023 | At the J.P. Morgan Healthcare Conference last week, several diagnostics companies offered insight into their directions and plans for the coming year, and oncology diagnostics was a refrain. Across the space, test developers and researcher groups are turning their attention first to minimal residual disease (MRD) tests. Here we gather feedback from a few of the companies that presented last week: Natera, Quest Diagnostics, and Invitae. (For Illumina’s plans—which also include MRD—see At J.P. Morgan, Illumina CEO Outlines GRAIL’s Successful Year, Uncertain Future.)  

Natera, which launched one of the very first non-invasive prenatal tests in 2013 and has seen much success with its Panorama NIPT test, still spent much of their podium time focusing on MRD. Steve Chapman, Natera’s CEO, returned to MRD testing as a refrain throughout his presentation. After entering the oncology and organ health markets in 2020, Natera’s Signatera MRD test saw robust growth in 2022, with 25% of US oncologists ordering Signatera tests in the fourth quarter of the year, Chapman said. The company conducted over 190,000 oncology tests, a year-over-year growth of 150%.  

The company has seen growth across all its business units, Chapman said, “but the growth is now being particularly driven by oncology and the rapid uptake of Signatera,” he said. He highlighted use by both NCNN and NCI cancer centers and reported a particularly strong fourth quarter. “We saw the highest number ever of new patients coming in using Signatera; the highest number ever on record of recurrent patients, and the most physicians using Signatera than we’ve ever seen in a quarter,” he said.  

Oncology testing represents true, life-saving potential, Chapman said. “Today doctors may use CT scans or CEA, but unfortunately 85% of patients that recur are diagnosed too late for the physician to do a surgical intervention. We think with Signatera, and doing longitudinal monitoring, we can identify these patients early and allow the physician to intervene and potentially save the patient’s life.”  

For the Panorama NIPT test, the market enjoyed expanded ACMG recommendations of testing for 22q11.2 microdeletions. For the organ transplant assessment tests, the company expects two large, key studies to be published in 2023: the DTRT study for Prospera Heart and the RenaCARE study for Renasight. But Chapman again returned to Signatera to highlight the growth in peer-reviewed oncology publications (39 so far) across a wide range of indications including colorectal, breast, lung, bladder, head and neck, pancreatic, ovarian, melanoma cancers and more. He highlighted two more papers that have been accepted and four more in process. 

“We’re expanding the opportunity. We can do that without validating a new test every time we go into a new opportunity. It’s the same test; it’s the same protocol. It’s validated now in pan-cancer opportunities. We just run the same test. It doesn’t matter what your tumor type is.”  

In the Quest Diagnostics update, CEO and President Jim Davis, who was just named CEO on November 1, hinted at changes coming for the company that serves one third of the US population each year. The company’s purpose—to help create a healthier world—won’t change, Davis said, but some of the company’s strategies and focus areas will.  

Genomics and the life sciences is one area of new interest for Quest, Davis said, pointing to the company’s recent hire of Sam Samad, former CFO of Illumina as Quest’s CFO, and Mark Gardner, formerly of Invitrogen and Thermo Fisher, who is now Quest’s SVP of Molecular Genomics and Oncology. Quest already does $1 billion of business in cancer testing, Davis pointed out, in things like routine PSA tests and pap smears. But it’s an area of active investment. “We’re building out an entirely new genomics and genetic sequencing platform, automating many of the manual interpretation steps using artificial intelligence to help with the interpretation,” he said. “As genetic and genomic testing continues to explode, we’re going to have an incredible cost position; we’re going to have an incredible efficiency and turnaround time position.”  

He also said the company is building capabilities for post-diagnostic testing: prognostics, therapy selection, and minimal residual disease (MRD). Davis expressed flexibility in what that may look like: perhaps partnering with diagnostics test manufactures, perhaps joint development ventures, or maybe outright acquisitions. “We control the specimens today, so it’s just a logical next step to be able to do that testing as these tests continue to emerge,” he said.  

Quest is also actively pursuing consumer-initiated testing, a $2 billion market. These individuals—maybe seeking privacy, maybe the “worried well”, or maybe those wanting more control in managing their chronic illnesses—will be eager order and pay for their own tests. The company launched Questhealth.com over the summer. “It provides an easier, simpler, more intuitive purchasing experience,” Davis said. “And based on the analytics we’ve seen thus far, we’re off to a great start.” Quest is committed to building consumer-initiated testing into a $250 million business by 2025.  

Invitae has undergone a substantial restructuring since last year’s J.P. Morgan Healthcare Conference, laying off more than 1,000 staff, consolidating geographic footprints, and eliminating some lines of business beginning in July 2022. Invitae’s new CEO, Kenneth Knight, took the stage at the conference this year to give an update on those efforts and cast a hopeful future for the new Invitae. The company vision remains intact, Knight said, but he highlighted new strategies toward profitability including a streamlined portfolio (for the most part the company is exiting in vitro fertilization testing), profits focus, and less broad innovation exploration, preferring instead to focus on “big bets” for the long term.  

“What has changed is how we will converge our focus and strategy to deliver sustainable growth,” Knight said.  

“We’re doubling down on our oncology franchise,” Knight said, highlighting the company’s recently launched Personalized Cancer Monitoring product. Currently, the PCM product is focused on minimal residual disease (MRD) monitoring. Knight reported “getting great uptake from a fee-for-service standpoint” but declined to share specific volume or revenue details.  

“We’re working with biopharma partners, and we have a pipeline that’s driving revenue for our PCM product,” Knight said. “As we look at our big bet that we’re making in MRD, we’re putting human and financial capital behind continuing to get clinical validation of our product, getting acceptance and adoption, then driving revenue recognition through reimbursement.” Therapy guidance, Knight added, will come at a later date.  

Knight also emphasized work in addressing clinical disparities for underserved populations, specifically through hereditary cancer mutation testing. He particularly highlighted a recent partnership with Morehouse School of Medicine in Atlanta as well as others with Mayo Clinic, Dana Farber Cancer Institute, Tulane Medical Center, and more. 

One thing that hasn’t changed, Knight said, is Invitae’s role as a pioneer and leader in genetic testing at scale. “We’ve served over three million patients, and over two million of those patients have entrusted us to responsibly share their information, enabling additional research,” he said. “The depth of our genetic data along with the longitudinal focus of our patient network are leading to insights which can provide further benefit to the lives of those patients, their families, and the healthcare ecosystem.” 

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