News Article | June 2, 2017
"This landmark FDA approval codifies the need to determine whether cancer patients potentially eligible for immuno-oncology therapy have microsatellite instability present in their tumors," said Doug Ward, CEO of PGDx. "It is particularly fitting that the approval involves MSI, a genomic condition whose relevance to cancer therapy was first uncovered by researchers at Johns Hopkins, with assistance from researchers at PGDx. We were thrilled to license rights to the patent-pending MSI measurement technology for immuno-oncology applications developed at Johns Hopkins, and are proud to be the first to offer it in both tissue and liquid biopsy formats. PGDx is also planning to submit a tissue-based MSI assay for FDA review later this year." PGDx's MSI testing is incorporated in the company's tissue-based CancerSELECT® 125 pan cancer genomic profiling assay and its non-invasive PlasmaSELECT™ 64 pan cancer assay that analyzes circulating tumor DNA in patient plasma. The company also recently received grant funding from the National Cancer Institute to advance liquid biopsy tests for determining a related biomarker known as tumor mutational burden. PGDx was an early leader in identifying the importance of MSI, contributing to a study on MMR and immune checkpoint blockade presented at the 2015 ASCO Annual Meeting. In that study, researchers found that colorectal cancer patients who had tumors with MSI/MMR deficiency had a much greater therapeutic response to pembrolizumab. The analysis showed that cancer patients with MSI/MMR deficiency on average had more than 20 times the number of mutations in their tumors as similar patients who were not mismatch repair deficient. This finding is consistent with other studies showing that PD-1/PD-L1 checkpoint blockers are most effective against tumors containing many mutations. The study was published in the New England Journal of Medicine. "We established PGDx to advance technology invented at Johns Hopkins based on our belief that greater understanding of tumor genomics would ultimately enable more effective and less toxic treatments for cancer," noted Victor E. Velculescu, MD, PhD, a co-founder of PGDx. Dr. Velculescu also is Professor of Oncology at the Johns Hopkins University School of Medicine. "This breakthrough approval from the FDA is an important milestone in the realization of that vision. I am proud that PGDx has played a significant role in this advance and that the company will help many more patients realize the benefits of immuno-oncology approaches for cancer treatment." PGDx representatives will be attending the 2017 ASCO Annual Meeting and are available at Booth #2078 to discuss the company's MSI testing and its complete range of cancer genome analysis tools for researchers and clinicians. Research services include exome and targeted approaches for tissue specimens, targeted approaches for plasma samples and a variety of custom tissue and plasma-based options designed to address the specific research needs of cancer researchers and drug developers. PGDx's service offerings for researchers and testing labs are complemented by the clinical services it provides to patients and physicians through its CLIA-certified laboratory, including its CancerSELECT 125 pan cancer genomic profiling assay and the non-invasive PlasmaSELECT™ 64 pan cancer profiling assay, both of which include MSI testing. About Personal Genome Diagnostics Personal Genome Diagnostics (PGDx) is empowering the fight against cancer by unlocking actionable information from the genome for oncology researchers, drug developers, clinicians and patients. The expert team at PGDx draws on a deep understanding of cancer biology, extensive experience in cancer genomics and clinical oncology, and the company's distinctive technologies that precisely identify and characterize unique genomic alterations in tumors. PGDx is working toward broad patient access to its genomic technologies and products, through a CLIA-certified facility providing comprehensive genomic services, as well as a portfolio of tissue-based and liquid biopsy genomic testing products for laboratories worldwide. Privately-held PGDx is headquartered in Baltimore, MD. For additional information, visit PersonalGenome.com. To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/personal-genome-diagnostics-highlights-its-patent-pending-microsatellite-instability-testing-technology-as-fda-approves-keytruda-for-msi-tumors-300467763.html
News Article | June 14, 2017
PlasmaSELECT analyzes circulating tumor DNA for genetic alterations, eliminating the need for tumor tissue or an invasive biopsy. The assay evaluates a targeted panel of 64 well-characterized cancer genes, using cell-free DNA extracted from plasma and prepared using proprietary methods that accommodate low abundance sample DNA. Samples are processed using a proprietary capture process and high coverage next-generation sequencing that make it possible to identify tumor-specific sequence mutations, amplifications, translocations and microsatellite instability with high sensitivity and specificity. Tumors that display MSI have lost the ability to repair errors in their DNA as a result of a condition known as mismatch repair deficiency (MMR). Researchers have shown that tumors displaying MMR deficiency and MSI are more susceptible to successful treatment with Keytruda (pembrolizumab) and other immuno-oncology drugs. MSI tumors have been identified in colorectal, endometrial, gastric and other types of cancer. PGDx offers a complete range of cancer genome analysis tools, including exome and targeted approaches for tissue specimens, targeted approaches for plasma samples and a variety of custom tissue and plasma-based options designed to address the specific research needs of cancer researchers and drug developers. PGDx's service offerings for researchers and testing labs are complemented by the clinical services it provides through its CLIA-certified laboratory. About Personal Genome Diagnostics . Personal Genome Diagnostics (PGDx) is empowering the fight against cancer by unlocking actionable information from the genome for oncology researchers, drug developers, clinicians and patients. The expert team at PGDx draws on a deep understanding of cancer biology, extensive experience in cancer genomics and clinical oncology, and the company's distinctive technologies that precisely identify and characterize unique genomic alterations in tumors. PGDx is working toward broad patient access to its genomic technologies and products, through a CLIA-certified facility providing comprehensive genomic services, as well as a portfolio of regulated tissue-based and liquid biopsy genomic testing products for laboratories worldwide. Privately-held PGDx is headquartered in Baltimore, MD. For additional information, visit PersonalGenome.com. To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/personal-genome-diagnostics-awarded-department-of-veterans-affairs-contract-for-its-plasmaselect--liquid-biopsy-cancer-profiling-assay-300473643.html
Agency: Department of Health and Human Services | Branch: National Institutes of Health | Program: SBIR | Phase: Phase I | Award Amount: 214.38K | Year: 2015
DESCRIPTION provided by applicant Development of a Non Invasive Plasma Based Test to Stratify Non Small Cell Lung Cancer Patients for Targeted Therapies Lung cancer is the most common and lethal cancer worldwide accounting for million new cases and million deaths in www lung org In the United States alone there will be approximately new cases and deaths in Non Small Cell Lung Cancer NSCLC accounts for of lung cancer DeSantis et al More than of NSCLC patients are diagnosed with metastatic disease and receive systemic treatment Targeted therapies developed recently have increased median survival by in metastatic NSCLC patients whose tumors harbor genetic alterations in specific clinically actionable cancer driver genes Kris et al Therefore clinical guidelines for metastatic NSCLC recommend molecular testing of these genes in stage IV patients to inform choice of targeted therapy Lindeman Cagle Beasley Chitale Dacic Giaccone Jenkins Kwiatkowski Saldivar Squire Thunnissen andamp Ladanyi however rely on the availability of adequate tumor tissue which excludes approximately of metastatic NSCLC patients from targeted interventions Travis et al The purpose of this phase I proposal is to develop and validate LungSelect a non invasive plasma based molecular test for the identification of genetic alterations both sequence mutations and structural alterations in clinically actionable cancer driver genes from circulating cell free DNA cfDNA of metastatic NSCLC patients We envision that the LungSelect test will enable approximately metastatic NSCLC patients to be stratified for FDA approved targeted therapies and late stage clinical trials annually while overcoming the need for tumor tissue that is mandatory for existing tissue based molecular tests Circulating cell free DNA fragments cfDNA are shed into the bloodstream by cells in the body A fraction of cfDNA in the plasma of cancer patients is shed from tumor cells and carries genetic alterations specific to tumor cells Crowley Di Nicolantonio Loupakis andamp Bardelli Reliable detection of tumor specific alterations in plasma can help stratify patients for targeted therapies and overcome the need for tumor tissue by traditional molecular tests To achieve this Personal Genome Diagnostics PGDx proposes to develop and validate LungSelect a non invasive plasma based molecular test for the identification of genetic alterations in clinically actionable genes in cfDNA of NSCLC patients The current phase I proposal consists of three specific aims development of the LungSelect test using digital next generation sequencing based approaches analytical validation of LungSelect and preliminary evaluation of concordance between the genetic alterations identified in matched tumor and plasma samples using LungSelect Pending success of the phase I proposal we will apply for phase II funding to further validate the assay and establish its clinical validity by demonstrating the concordance between time matched tissue and plasma samples in a large cohort of cancer patients Additionally we plan to commercialize the assay to afford NSCLC patients without tumor tissue who currently receive conventional chemotherapy alone the clinical benefit of existing FDA approved targeted therapies PUBLIC HEALTH RELEVANCE Lung cancer is the leading cause of cancer death claiming lives in the U S in Non Small Cell Lung Cancer NSCLC accounts for of lung cancer death and is caused by the accumulation of genetic alterations in cancer driver genes initiating and promoting the uncontrolled growth and metastasis of cancer cells Multiple targeted therapies have been developed which preferentially inhibit cancer cells and limit damage to normal cells Such targeted therapies have increased median survival by over conventional chemotherapy in NSCLC patients whose tumors harbor these genetic alterations Existing molecular tests in NSCLC rely on the availability of adequate tumor tissue but unfortunately approximately of NSCLC patients lack sufficient tumor tissue samples and receive conventional chemotherapy alone Personal Genome Diagnostics proposes to develop and validate LungSelect a non invasive plasma based molecular test for the identification of genetic alterations in clinically actionable genes in cfDNA of NSCLC patients
Agency: Department of Health and Human Services | Branch: National Institutes of Health | Program: SBIR | Phase: Phase I | Award Amount: 216.86K | Year: 2015
DESCRIPTION provided by applicant With over million new cases and over deaths annually colorectal cancer CRC is the third most common cancer and the third highest cause of cancer death in the developed world CRC patients are classified into stage I through IV depending on the extent of their disease Approximately of CRC patients are diagnosed with localized stage II cancer amounting to new cases in the developed world and in the U S annually The standard of care for stage II CRC includes surgical removal of the tumor followed by adjuvant therapy in high risk patients The current risk stratification approaches including the standard of care TNM staging method offer only limited accuracy as evidenced by the approximately of stage II CRC patients who recur with predominantly incurable disease and do not receive adjuvant therapy Therefore novel more accurate approaches to identify high risk patients are urgently needed Circulating cell free tumor derived DNA ctDNA is released by tumors and carries tumor exclusive genetic alterations Hypothesis We hypothesize that direct and early detection of minimal residual disease MRD using ctDNA will more accurately identify high risk CRC patients than the current approaches that predict recurrence based on analyses of the resected tumors Preliminary Data We have pioneered the development of technologies for evaluation of ctDNA and established ctDNA as an exquisitely specific and sensitive marker for tumor burden and MRD Most relevant to this proposal we have demonstrated that andgt of localized CRC release detectable ctDNA and that post surgery ctDNA levels are prognostic Specific Aims In this phase I SBIR we propose to develop and validate CRCDetect a molecular test for the detection of MRD using ctDNA in the peripheral blood of stage II CRC patients collected weeks after surgery CRCDetect can identify patients who are not cured by surgery alone have a high risk of recurrence and may benefit from adjuvant therapy In Specific Aims and we will focus on the development and analytical validation of CRCDetect In Specific Aim we will evaluate the prognostic performance of CRCDetect in a cohort of stage II CRC patients Overall Impact Together these studies will demonstrate the feasibility of using CRCDetect to detect MRD in early stage CRC patients from a simple blood draw after surgery thereby identifying the stage II CRC patients with a high risk of recurrence and informing whether a patient should receive adjuvant treatment PUBLIC HEALTH RELEVANCE Colorectal cancer CRC is the third most common cancer with over new cases diagnosed and deaths predicted in in the United States More than of CRC patients including stage I III and some stage IV patients have surgery performed intended to cure their cancer Current standard care for stage II CRC includes surgical removal of tumor followed by chemotherapy treatment for patients who have a high risk of recurrence Although existing approaches attempt to predict the risk of recurrence based on features of the resected tumors they achieve only modest accuracy as evidenced by cancer recurrence in stage II CRC patients Given the high specificity and sensitivity of circulating tumor DNA ctDNA as a cancer marker we propose to develop and validate CRCDetect a non invasive approach for detection of cancer specific mutations in peripheral blood of CRC patients using digital sequencing and polymerase chain reaction PCR methods CRCDetect would identify from a simple blood drawl the stage II CRC patients who have a high recurrence risk and may benefit from chemotherapy The results from CRCDetect would enable physicians to determine the most appropriate treatment course for stage II CRC patients and would improve the outcome and survival of this patient cohort
Personal Genome Diagnostics (PGD) | Date: 2016-03-15
Increased sensitivity and specificity of characterizing patient-specific variations as mutations that are indicative of a cancer or other disease by identifying patient-specific tumor mutations by comparing tumor and normal sequence reads from the patient and filtering for mutations that are unique to the tumor. By comparing tumor sequence to a normal sequence from the same patient, false-positive mutation calls are minimized in the analysis.
Personal Genome Diagnostics (PGD) | Date: 2016-07-14
Cancer immunology provides promising new avenues for cancer treatment but validation of potential neoantigens to target is costly and expensive. Analysis of MHC binding affinity, antigen processing, similarity to known antigens, predicted expression levels (as mRNA or proteins), self-similarity, and mutant allele frequency, provides screening method to identify and prioritize candidate neoantigens using sequencing data. Methods of the invention thereby save time and money by identifying the priority candidate neoantigens for further experimental validation.
Personal Genome Diagnostics (PGD) | Date: 2016-10-03
Chemical and biological products for use in the medical and scientific research industry, namely, diagnostic kits comprised of reagents and cell lines for research purposes.
Personal Genome Diagnostics (PGD) | Date: 2015-10-15
Chemical and biological products for use in the medical and scientific research industry, namely, diagnostic kits comprised of reagents and cell lines for research purposes. Communication of data, namely, electronic transmission of data and documents among users of computers for purpose of storing, organizing, displaying, analyzing and generating annotations. Consulting, research, development, engineering, and visual inspection services in the field of genetic sequencing for scientific and laboratory purposes. Consulting and testing services in the field of genetic sequencing for medical, diagnostic and treatment purposes.
News Article | November 29, 2016
BALTIMORE, Nov. 29, 2016 /PRNewswire/ -- Personal Genome Diagnostics Inc. (PGDx), a leading provider of advanced cancer genome testing products and services, today announced that Maria Chan, PhD, has joined the company as Vice President of Regulatory Strategy. Dr. Chan will play a major...