MSI and MMR are well established diagnostic risk biomarkers for Lynch Syndrome (LS). Predictive clinical utility of MSI/MMR status is evolving, with 2 therapy approvals identifying pan-tumor and endometrial cancer patients eligible for Immune Checkpoint Inhibitors (ICI).

Today, MSI/MMR testing for solid tumors is recommended to evaluate for LS and to predict therapy response. Sufficient adoption of MSI/MMR testing depends on physician awareness of clinical utility, test availability and adequate reimbursement. Either Microsatellite Instability-High (MSI-H) or a Deficient DNA Mismatch Repair (dMMR) result is required to prescribe therapy. This could lead to confusion and disparity between MSI and MMR testing.

We assessed the US solid tumor testing landscape utilizing our Diagnostic Network for Precision Medicine (DXRX) data platform. Real-world data from 52,037 patients between Q3 2017 to Q3 2020 was used to calculate MSI and MMR testing rates across the following metastatic tumor indications: Non-Small Cell Lung Cancer (NSCLC), bladder cancer, cervical cancer, Colorectal Cancer (CRC), Triple-Negative Breast Cancer (TNBC) and Gastrointestinal Stromal Tumor (GIST). One hundred and fifty-nine labs were also profiled to assess in-house MSI and MMR testing capabilities and methodology.

In this poster we assessed the US solid tumor testing landscape utilizing our Diagnostic Network for Precision Medicine (DXRX) data platform. Real-world data from 52,037 patients between Q3 2017 to Q3 2020 was used to calculate MSI and MMR testing rates across the following metastatic tumor indications: Non-Small Cell Lung Cancer (NSCLC), bladder cancer, cervical cancer, Colorectal Cancer (CRC), Triple-Negative Breast Cancer (TNBC) and Gastrointestinal Stromal Tumor (GIST).

Various rare driver mutations have been studied in non-squamous Non-small Cell Lung Cancer (NSCLC). Individually they are considered rare (<3% prevalence), however, collectively they can represent up to 15.1% of the NSCLC mutation profile. Therapies targeting rare mutations in NSCLC such as ROS1, NTRK, RET, have been approved to be used at 1st line for metastatic NSCLC (mNSCLC). With many more therapies under development, there is an increased need to use multi-gene testing such as NGS to ensure that all relevant actionable variants are tested prior to 1st line treatment. 

The objectives of this ePoster was to assess United States laboratory real-world NGS testing rates based on public and commercial claims data and the lab readiness of key US labs based on their offering of comprehensive genomic testing and coverage of established and emerging rare mutations of mNSCLC.

Tumor Mutation Burden measures patient tumor mutation quantity. High TMB status clinically correlates with better Immune Checkpoint Inhibitor (ICI) therapy outcomes. Several methods and definitions exist to measure patient TMB status. Today, guidelines classify TMB as an emerging biomarker, and acknowledge no consensus exists on how to test. However, an approved therapy with a targeted Next-Generation Sequencing (NGS) panel-based Companion Diagnostic (CDx) provides a TMB High status definition linked to a single ICI.


In poster #ST42 Diaceutics evaluate TMB testing availability, adoption, and methods used to assess US NSCLC patients using DXRX® data platform to access Real-world data from 106,076 patients diagnosed with NSCLC from Q1 2019 to Q3 2020.

In this poster we evaluate TMB testing availability, adoption, and methods used to assess US NSCLC patients utilizing our Diagnostic Network for Precision Medicine (DXRX®) data platform to access Real-world data from over 100,000 patients diagnosed with NSCLC from 2019 to 2020.

The COVID-19 pandemic has caused nearly 695,000 deaths in the US as of 29 Sep 21

An increasing body of evidence demonstrates that the COVID-19 pandemic of 2020 saw large reductions in the number of US patients being diagnosed with a variety of conditions including cancer, ischemic stroke, heart failure and depression

Screening and diagnosis rates for a number of different cancers dropped in the first quarter of 2020 e.g., coincident with the deployment of measures intended to mitigate the spread of infection and that diagnosis rates had not returned to normal by the third quarter of 2020

In this conference poster, Diaceutics revealed an increasing body of evidence demonstrating that screening and diagnosis rates for a number of different cancers (including TNBC ) dropped in the first quarter of 2020, coincident with the deployment of measures intended to mitigate the spread of COVID19 infection and showing that diagnosis rates had not returned to normal by the third quarter of 2020.

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Association for Molecular Pathology AMP 2021 Poster #ST61

IASLC ePoster: Real-world readiness of US laboratories to test metastatic NSCLC patients for rare actionable genomic variants by NGS

Association for Molecular Pathology AMP 2021 Poster #ST42

San Antonio Breast Cancer Symposium SABCS 2021 poster