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Through Mayo Clinic Pact, PGDx Hopes to Show Clinical Utility for NGS Tissue, Liquid Biopsy Assays


NEW YORK – Personal Genome Diagnostics and Mayo Clinic have launched a project to evaluate the firm's next-generation sequencing (NGS) tissue and liquid biopsy technology with the goal of helping the hospital improve cancer treatment by identifying effective therapy options and improving monitoring of patient response to therapy.

PGDx's Elio Tissue Complete, a 507-gene NGS test, identifies classes of gene alterations and reads out measures of microsatellite instability and tumor mutational burden in patients. The firm's Elio Plasma Resolve liquid biopsy assay also uses NGS to identify single nucleotide variants, small indels, amplifications, rearrangements, and MSI in circulating cell-free DNA.  

While both tests have received CE marking, the Baltimore, Maryland-based firm is currently gathering data and engaging in conversations with the US Food and Drug Administration in order to achieve approval for clinical use across customer laboratories.

PGDx CEO Doug Ward explained that discussions with Mayo began in early 2019 when the health organization expressed interest in exploring the use of both the tissue and plasma assays. Since then, Ward said that the project has evolved such that the partners believe they can "advance NGS and improve cancer patient care."

Megan Bailey, PGDx's chief commercial officer, noted that "while one goal is to increase access to precision medicine, bringing that into standard-of-care practice requires pairing novel technologies and patient care pathways."

By combining Mayo's expertise in integrated delivery of care for cancer patients and PGDx's background in genome technology and kit development, Bailey believes the group can evaluate the impact of the tests on care decisions.

While the multi-year trial will involve several clinical studies, Bailey explained the Mayo researchers will separately evaluate PGDx's tests on a variety of plasma and tissue clinical samples. Minetta Liu, lead investigator of the liquid biopsy trial and medical oncologist at the Mayo Clinic, noted that her team aims to establish the clinical utility of PGDx's Elio assays.

Liu noted that tests like Elio Tissue Complete may help the Mayo Clinic select therapeutic targets and establish targeted therapies for cancer patients.

"Certain trials [like this one] are increasingly looking into using blood [and/or] tissue for cancer detection," Liu said. "More are focused on blood-based methods, as its easier for us to draw blood to monitor disease."

Although there are multiple liquid biopsy products on the market that sequence tumor or cell-free DNA and analyze different mutations, Liu noted that in general, "there haven't been cases of great clinical utility across the board." She emphasized that tools like Elio Plasma Resolve require further validation, as their sensitivities and specificity are "often hard to determine."

While Bailey was unable to disclose which cancer types the team will initially analyze in the studies, she noted that Liu's team primarily specializes in breast cancer and that PGDx sees the highest utility for the tests in lung cancer. However, Bailey emphasized that the firm developed the Elio assays to examine the clinical impact across multiple cancer types.

In the studies, the Mayo researchers will perform the assays on clinical samples from late-stage cancer patients. Because the Mayo Clinic has access to a large and varied number of samples, PGDx believes the studies will also help demonstrate the ability of the Elio assays to analyze rare cancer biomarkers.

"We are [also] talking about biomarkers that have implications and that are more prevalent than others, [as] you may not initially spot rarer ones like ROS-1 in lung cancer," Bailey said. "But when you find an actionable target, that can have a big impact on treatment decisions."

Ward noted that one of the major challenges in advancing precision medicine is bridging the expertise of companies developing products with the expertise of labs in the delivery system for those products.

In addition to Mayo, PGDx has also begun trials with groups including Merck and Japan-based Eisai as part of its goal to improve clinical utility for its line of Elio assays.

"As PGDx collects more clinical data, we plan to evaluate the performance characteristics needed to effectively help patients throughout their journey, from therapeutic selection to monitoring response," Ward explained. "A technology is only as good as the patient impact it can have in a real-world setting, which involves clinical, operational, and economic factors."