PERSONAL GENOME DIAGNOSTICS INC.

Company Overview

Founded as a spin-out from John Hopkins University, Personal Genome Diagnostics (PGDx) offers cancer exome sequencing services to the clinical industry. The company has achieved CLIA certification using the Illumina HiSeq 2000. Also, PGDx has exclusively licensed digital karyotyping technology from Johns Hopkins University, to allow for analysis of copy number changes in cancer genomes. In February 2022, it was acquired by LabCorp, a leading global life sciences company.

PGDx is primarily focused on the clinical research market, including pharmaceutical and biotechnology companies.

PGDx uses high-throughput NGS to identify a range of mutation types, including point mutations, CNVs, rearrangements, and indels.

The main NGS-based assays include CancerSelect 125, CancerXome, ImmunoSelect, PlasmaSelect, and PGDx tissue and liquid biopsy reagent kits.

CancerSelect 125 is a tissue-based assay that analyzes the coding regions of 117 and selected regions of 41 cancer-related genes. The assay uses proprietary capture design and NGS instruments. In March 2017, PGDx began including CancerSelect 125 in its testing contract with the U.S. Department of Veterans Affairs as part of the precision oncology program at this department. As a result, CancerSelect 125 became available to all cancer patients treated at Veterans Administration hospitals throughout the U.S.

CancerXome is a tissue-based test that analyzes the coding regions of more than 20,000 genes. ImmunoSelect is a tissue-based test that identifies and prioritizes the most relevant mutation-derived neoantigens (immunogens that are unique to each tumor).

PlasmaSelect 64, launched in October 2016, was PGDx’s first clinical product. It is a liquid biopsy test that examines a panel of 64 highly characterized cancer genes. The test focuses on providing results that are clinically actionable and on genes that cover a wide range of cancer types.

In July 2018, the PGDx Elio Plasma Resolve cfDNA assay received Breakthrough Device Designation from the U.S. FDA’s Center for Device and Radiological Health. Breakthrough Device Designation means that the FDA will work with a test developer to cut down the time and cost of developing an assay through the approval stage. The PGDx assay uses NGS to analyze SNVs, amplifications, rearrangements, and microsatellite instability as a guide to therapy selection for cancer patients.

In April 2020, the Elio Tissue Complete test, an NGS diagnostic assay used to perform genomic profiling of cancer, was cleared by the U.S. FDA. PGDx’s Elio Tissue Complete identifies single nucleotide variants and small insertions and deletions in 507 genes, select amplifications and translocations, and genomic signatures including MSI and TMB. This profiling assay helps doctors choose appropriate targeted cancer therapies and immunotherapies, as well as identify patients for clinical trial participation.

In January 2020, PGDx formed an alliance with the Mayo Clinic covering improved clinical diagnostics for cancer applications. The partners agreed to focus on optimizing technology and conducting clinical utility studies for liquid biopsy and tissue-based genomic applications. They agreed to combine their respective areas of expertise: Mayo Clinic’s clinical knowledge and oncology know-how and PGDx’s experience with genomic technology.

This collaboration strengthened PGDx’s business model as it added a partner that has unrivalled experience in oncology in a clinical setting. The partnership will allow PGDx to assess the impact its Elio liquid biopsy and tissue applications will have on improving clinical insights and will also advance the application of NGS.

In January 2020, PGDx formed an alliance with Eisai to develop next-generation liquid biopsy biomarkers. The partners agreed to create a kitted NGS technology that will enable researchers and biopharma companies to conduct biomarker discovery work on patient blood samples obtained during clinical trials.

In September 2020, PGDx formed a partnership with Genosity that includes a nonexclusive comarketing agreement. Genosity agreed to incorporate the PGDx elio tissue complete assay into its software platform and professional consulting services. PGDx agreed to co-market Genosity’s Integrated Genomic Toolkit, designed to support integration of NGS-based testing into precision medicine programs conducted by biopharma, commercial labs and health systems.

In January 2021, PGDx partnered with Almac Diagnostic Services; the companies agreed to work together to expand access by pharma companies to tumor profiling assays. The companies will provide access to tumor profiling tests for both tissue- and plasma-samples, including PGDx’s Elio tissue complete and Elio plasma resolve tests. This alliance provides opportunities for NGS-based testing in the clinical trial and companion diagnostics market segments.

In January 2021, PGDx and Qiagen formed a partnership to provide clinical decision support to users of PGDx’s genomic profiling tests. Laboratories that purchase the Elio oncology tests will have an option to get standardized reporting from Qiagen that is supported by professional guidelines to facilitate case review. Laboratories will also get access to Qiagen’s QCI Interpret One for fast, evidence-based variant interpretation and reporting for NGS tests.

In May 2023, PGDx (LabCorp) launched LabCorp Plasma Focus, a novel liquid biopsy test designed to facilitate targeted therapy selection for patients diagnosed with advanced or metastatic solid tumors.

Company's Business Segments

• Biopharma Products : The company offers several Biopharma products such as PGDx elio Solutions, PGDx elio Tissue Complete, PGDx elio Plasma Complete, PGDx elio Plasma Focus.
• Biopharma Services : The company offers several Biopharma services, such as Early-stage Biopharma, Late-stage Biopharma.