TEST:

PGDx elio™ tissue complete assay

NGS, with its capacity for comprehensive genomic analysis, excels in detecting diverse genetic alterations, offering superior resolution compared to CMA. This study supports the use of the PGDx elio tissue complete panel as a compelling alternative to CMA, showcasing its accuracy in assessing the HRD phenotype. The observed high concordance rate further enhances its value in the clinical diagnostic setting.

The AVENIO CGP Assay demonstrated high agreement with 2 established CGP tests, F1CDx and PGDx, in variant reporting, and closely aligned with F1CDx in HRDsig analysis across various tissue types. These results highlight the assay's reliability and demonstrate its utility in translational research.

AVENIO CGP Assay delivers high reliability with a 93.8% initial pass rate and 99.3% after retest. Its automated, integrated approach reduces hands-on and turnaround time, and ensures precision with APA and ANA more than 99%, making it an efficient solution for genomic profiling in various settings.

Here we describe an interesting case of donor-derived gynecologic origin tumor found in a liver transplant recipient. TUO classification by the Northwestern DNA methylation assay was critical in the following work-up to confirm site of origin of this tumor. This case demonstrates the robustness of the TUO classifier and its utility in identifying the tumor type in challenging cases, which is essential for appropriate treatment and clinical management.

The AVENIO CGP assay is an end-to-end platform for tumor genomic profiling, with proven high analytical sensitivity and specificity. Its superb performance makes it well suited for translational research, providing deep genomic analyses to accelerate cancer research.

"Labcorp...announced new strategic service offerings within its precision oncology portfolio. This expansion will extend availability of the service through owned laboratories in Geneva and Shanghai to support research and investigational use in global clinical trials, streamlining access for patients to oncology clinical trials, broadening the patient population, and helping improve logistical efficiencies through Labcorp's global network."

"TMB was also assessed by the assay and correlated to the presence of NSCLC driver alterations and was found to be significantly lower in cases with NGS-confirmed canonical driver mutations compared with those without (p=0.0019). Overall, this study validates NGS as an accurate approach for detecting structural variants while also highlighting the need for further optimization to enable harmonization across methodologies for amplifications."

Utilizing the newly developed automated workflow on the Biomek NGeniuS produced accurate and reproducible results and reduced user hands-on time and touchpoints. Variant detection across all variant classes was also highly concordant between the manual and automated workflows. Taken together, these data demonstrate the Biomek NGeniuS system can be successfully implemented to perform laboratory automation of PGDx ETC, maintaining analytical performance with reduced user intervention.

Precision medicine relies on the ability to accurately identify cancer mutations through comprehensive diagnostic approaches including tumor genomic profiling. NGS not only facilitates this requisite but can also be applied to confirm cancer diagnoses or case re-evaluations where genomic findings are inconsistent with initial pathological review. This case series expands the value of CGP beyond biomarker detection for therapy selection, and highlights the justification of its use in diagnosis confirmation and tumor characterization.

CHIP and CCUS play important roles as precursors to hematopoietic malignancies. Consequently, we characterized the population with solid tumor malignancies for mutations suspicious for CHIP/CCUS. Although <2% of our cohort demonstrated variants at time of diagnosis/recurrence, these may be significant in determining treatment options in the future.

Conclusions This exploratory analysis of the MOUNTAINEER trial found generally consistent clinical efficacy of TUC + Tras to the primary analysis across subsets of pts w/ HER2+ RAS-WT mCRC and other clinically relevant genomic alterations. Table: 551O cORR DOR n % 95% CI n Months 95% CI Mutations Tissue NGS 45 46.7 31.7 – 62.1 21 15.3 8.9 – 25.5 ERBB2 6 66.7 22.3 – 95.7 - APC 36 44.4 27.9 – 61.9 16 16.6 6.1 – NE TP53 40 45.0 29.3 – 61.5 18 16.6 8.9 – NE ctDNA NGS 66 39.4 27.6 – 52.2 26 12.4 8.3 – 20.5 PIK3CA 7 28.6 3.7 – 71.0 - ERBB2 15 46.7 21.3 – 73.4 7 11.4 6.1 – NE APC 37 45.9 29.5 – 63.1 17 15.3 6.2 – NE Amplifications Tissue NGS 45 46.7 31.7 – 62.1 21 15.3 8.9 – 25.5 ERBB2 44 47.7 32.5 – 63.3 21 15.3 8.9 – 25.5 BRCA2 5 80.0 28.4 – 99.5 - ctDNA NGS 66 39.4 27.6 – 52.2 26 12.4 8.3 – 20.5 BRAF 7 14.3 0.4 – 57.9 - CCND1 7 14.3 0.4 – 57.9 - CDK6 10 30.0 6.7 – 65.2 - EGFR 19 36.8 16.3 – 61.6 7 12.5 4.2 – NE ERBB2 57 40.4 27.6 – 54.2 23 12.4 6.2 – 38.3 PIK3CA 5 40.0 5.3 – 85.3 - *cORR and DOR were not calculated for sample sizes <5.

NGS can be broadly applied throughout the cancer care continuum, with a new perspective on its potential value diagnostically. In these cases, re-evaluation and subsequent re-classification led to treatment strategy shifts that are more specific to the patient’s tumor type. These findings provide critical real-world evidence that supports the value of broad genomic profiling in complex cancer cases, especially when the genomic findings are inconsistent with the initial diagnosis, or the diagnosis is unclear.

Once sequencing data is obtained, multivariate Cox regression analysis will be used to assess the association between post-surgery ctDNA detection and progression-free and overall survival. Ultimately, the results of this study will be used to design an ethically acceptable and cost-effective ctDNA-guided interventional trial in stage III colon cancer patients, in order to improve the risk stratification and reduce futile ACT and its associated side-effects.

"Personal Genome Diagnostics Inc...today announced an update to the Proprietary Laboratory Analyses (PLA) code for its comprehensive genomic profiling test, PGDx elio™ tissue complete. The Centers for Medicare & Medicaid Services (CMS) finalized a national reimbursement rate of $2,919.60 for the PLA code (0250U) that PGDx obtained for the test...The new Medicare payment rate went into effect on January 1, 2022."

Both copy number alterations and gene translocations showed 80-83% PPA, while tumor mutation burden (TMB) and microsatellite status showed a high level of concordance across a range of mutation loads and tumor types. The PGDx eliotissue complete assay is comparable to the FoundationOne test and will allow more laboratories to offer a diagnostic NGS assay in-house, which will ultimately reduce time to result and increase the number of patients receiving molecular genomic profiling and personalized treatment.

"Personal Genome Diagnostics Inc...today announced a collaborative partnership with the Duke University Health System (DUHS) Clinical Molecular Diagnostics Laboratory. As part of the collaborative partnership, PGDx’s elio™ tissue complete will be the primary technology platform for the laboratory’s clinical oncology genomic testing initiatives. The laboratory will also collaborate with PGDx on the development of next-generation data integration solutions aimed at optimizing clinical usability of genomic data and insights across the cancer care continuum."

"Personal Genome Diagnostics Inc. (PGDx)...announced today that it has entered into a collaboration with QIAGEN to provide comprehensive genomic profiling tests and clinical decision support to molecular labs. Under the non-exclusive agreement, PGDx will be responsible for the distribution of the PGDx elio™ oncology products and kitted solutions. Laboratories that purchase the PGDx elio products will have an option to receive from QIAGEN standardized reporting, driven by professional guidelines for streamlined case review and sign-out. In addition, laboratories will receive access to QIAGEN’s QCI Interpret One for rapid, evidence-based reporting for next-generation sequencing (NGS) oncology tests at scale."

"PGDx and Almac Diagnostic Services will focus on providing access to tumor profiling assays for both tissue and plasma samples, specifically, PGDx elio™ tissue complete and PGDx elio™ plasma resolve. This collaboration will combine Almac’s world-class genomics services and expertise in development and delivery of molecular diagnostics with PGDx’s leadership in cancer genomics to accelerate solutions that will deliver precision medicine to more patients."

Funding: Eisai. Clinical trial identification: NCT02275910.

"Genosity, Inc…announced today that it has entered into a strategic collaboration with Personal Genome Diagnostics Inc. (PGDx)…that recently received market clearance from the U.S. Food and Drug Administration (FDA) for PGDx elio™ tissue complete, a comprehensive diagnostic kit for genomic profiling of cancer…As part of the agreement, Genosity will incorporate the PGDx elio™ tissue complete assay into its software platform and professional consulting services."

"Personal Genome Diagnostics Inc...announced...that the CMS Molecular Diagnostics Program (MolDX) has issued a local coverage determination (LCD) for the FDA-cleared PGDx elio™ tissue complete assay. The MolDX coverage determination establishes reimbursement for laboratory facilities across the 28-state MolDx jurisdiction, extending Medicare benefits for this comprehensive genomic test to patients living with advanced cancers."