November 27, 2014 12:22 AM ET

Healthcare Providers and Services

Company Overview of Personal Genome Diagnostics, Inc.

Company Overview

Personal Genome Diagnostics, Inc. engages in the patient-specific analyses of cancer genome using digital characterization and monitoring technologies. The company provides METDetect Assay for the detection of MET gene amplifications in the circulation of cancer patients with reports that include identification and schematic representation of tumor-specific MET amplifications, annotation of predicted mutation consequences, data summary statistics, and integrated analysis reporting. Personal Genome Diagnostics, Inc. was founded in 2010 and is based in Baltimore, Maryland.

855 North Wolfe Street

Suite 629

Baltimore, MD 21205

United States

Founded in 2010





Key Executives for Personal Genome Diagnostics, Inc.

Co-Founder and Chief Medical Officer
Co-Founder and Chief Scientific Officer
Chief Financial Officer
Compensation as of Fiscal Year 2014.

Personal Genome Diagnostics, Inc. Key Developments

Personal Genome Diagnostics Inc. Launches CancerSelect ES Providing Turnkey Solution for Advanced Cancer Genetic Research

Personal Genome Diagnostics Inc. announced the launch of its CancerSelect(TM) Enterprise Solution (ES) that enables laboratories with next-generation sequencing capability to conduct advanced cancer genetic testing for research applications. CancerSelect ES provides a turnkey solution that includes CancerSelect gene panels, proprietary bioinformatics software, staff training, ongoing technical support, report generation, and panel updates. The two PGDx CancerSelect panels detect alterations in 88 and 203 well-characterized genes that are of high biologic importance in cancer. They have been selected for their relevance to cancer-related drug targets and pathways. The CancerSelect gene panels identify genetic alterations in the targeted genes, including point mutations, copy number alterations and genetic rearrangements. Most other cancer gene tests only identify point mutations, yet all three types of genetic alterations can potentially play a role in disease progression and response to current or future therapies. The CancerSelect gene panels achieve analytical sensitivity of more than 99% for mutations and indels at 2% mutant allele frequency. Their specificity is greater than 99.99%, with a target depth of coverage of more than 1,500.

Personal Genome Diagnostics Inc. and Blueprint Medicines Disclose First-Ever Comprehensive Genomic Study of Malignant Mixed Mullerian Tumors

Personal Genome Diagnostics Inc. and Blueprint Medicines disclosed the first-ever comprehensive genomic study of malignant mixed Mullerian tumors (MMMT), an aggressive and deadly cancer of the female reproductive system, also known as carcinosarcoma. The new study, published in the current online edition of Nature Communications, uncovers genetic alterations previously not associated with MMMT. These genetic alterations likely play a role in development of the tumors and can serve as targets for anticancer drugs. Researchers from PGDx and Blueprint Medicines, with colleagues from Johns Hopkins University and Oregon Health and Science University, discovered that MMMT/carcinosarcomas have many mutations located in clinically relevant genes, such as PIK3CA, KRAS and DNA repair pathway genes. Some of these previously unidentified genetic mutations may be addressed by existing therapies or by investigational drugs currently in clinical trials. The analysis also revealed that a high fraction of mutations were in "chromatin remodeling" genes, which regulate the structure of chromosomes and, when mutated, are thought to have dramatic effects on the biology of the cell. Chromatin remodeling genes are currently being evaluated as potential targets for epigenetic and other novel therapies.

Appistry Teams with Personal Genome Diagnostics to Offer CancerSelect Test through Appistry CloudDx

Appistry, Inc. announced an agreement with Personal Genome Diagnostics to include the company's CancerSelect(TM) panel in Appistry's recently released Appistry CloudDx(TM) genomics testing service. PGDx is among the first organizations to offer lab-developed tests (LDTs) through Appistry's cloud-based service that makes LDTs from leading diagnostic test providers available to physicians across the United States. CancerSelect targets 120 genes of clinical and biological importance to cancer, providing information that can help physicians individualize treatment to a patient's cancer. The CancerSelect panel is sequenced in PGDx's CLIA-certified laboratory, and the analysis is conducted using PGDx's proprietary algorithms that provide extremely high coverage, copy number analyses for 63 genes, and translocation analysis for 17 genes. Appistry will collaborate with PGDx to deliver a report to participating physicians containing a pathological evaluation of the tumor sample; tumor-specific mutations (alterations and substitutions, amplifications, and translocations); a description of mutated genes and pathways along with biologic and clinical implications; full statistics; and therapeutic, predictive, and prognostic information and references, as well as referral information for ongoing clinical trials that might be relevant based on the analysis results. Appistry CloudDx streamlines and simplifies the workflow associated with genomics-based testing, which has been limited in its impact, partly because it requires organizations to amass infrastructure and expertise to deliver relevant results that are usable by physicians. Appistry CloudDx provides a single web dashboard for ordering and tracking the progress of tests and orchestrates the data flow between test providers such as PGDx and requesting physicians and hospitals, thereby ensuring that data and physical samples are transferred and securely managed in accordance with HIPAA and CLIA guidelines.

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