PierianDx: Breaking New Ground In Ngs
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PierianDx: Breaking New Ground In Ngs

For decades, genomic studies banked on Sanger sequencing or the dideoxy chain termination method of sequencing DNA, wherein the understanding of genome function was derived using microarray and hybridization-based techniques. Evidently, back in 2011, no sophisticated solution existed for clinical labs to easily and seamlessly sequence, analyze, interpret and report on a patient’s genes, their implications for diagnosis, and individualized therapy, in a cheaper and more rapid fashion. This market gap led to the introduction of Next Generation Sequencing (NGS) technology that revolutionized the way scientists think about genetic science and studies. In order to support Washington University’s personalized medicine initiatives, Rakesh Nagarajan, founder and CEO of PierianDx, along with his multi-disciplinary team of genomicists, pathologists, clinicians and bioinformatics experts invented one of the first clinical bioinformatics platforms—Clinical Genomicist Workspace (CGW)— capable of enabling labs to perform NGS testing. Prior to this, Dr. Nagarajan and his group had developed and supported broad biomedical informatics infrastructure to facilitate clinical and translational research and clinical genomic testing. Since spinning out of Washington University in 2014, PierianDx extended the capability of its knowledgebase and clinical workflow, building one of the most comprehensive clinical genomics platforms in the industry. Today, a number of health systems, academic medical centers, cancer centers and hospitals worldwide are using PierianDx’s CGW powered by its Clinical Genomics KnowledgeSpace and WorkSpace to advance precision medicine.

As a true innovator in the genomics space, PierianDx has fostered the development of NGS testing, a multi-billion market in genomics that enhances the sequencing efficiency while decreasing the cost. By enabling clinical labs to streamline workflow and access a single, cloud-based workspace that provides a knowledgebase, comprehensive analysis, insightful interpretation, and precise reporting, PierianDx’s CGW addresses the most pressing challenges in NGS. These include handling the massive volume of data, reporting, and compliance requirements, and managing the complexity of interpreting results from large gene panels. The company’s CGW which it claims to be a “one-space” solution with numerous functions under a single pane of glass, provides a data-driven ecosystem for clinical labs to launch or expand their NGS testing programs.

The ‘One-Space’ Solution

As an industry leading integrated workspace for genomic analytics, PierianDx’s CGW is a ‘one-space’ cloud-based suite of modules accompanied by support services that provide a data-driven ecosystem for clinical labs to launch or expand their NGS testing programs. The solution consists of a robust database comprised of millions of biomedical findings driven by public and highly sources, PierianDx’s Clinical Genomics KnowledgeSpace. The database engine simplifies the complexity of genomic data.

The company helps clients in every step of the way, from implementation through initial test validation, to integration of genomic patient data into their Electronic Medical Record (EMR)


The ‘knowledgespace’ translates public data, highly curated data, shared interpretations from partners and other sources into easy-to-understand personal reports that clinicians can share with their patients. The constantly expanding molecular medical knowledgespace provides an effective, data-driven, reproducible clinical decision-making and provides actionable intelligence at the point of care.

At the core, PierianDx’s primary role is to advance customers’ personalized medicine initiatives by providing a best-of-class NGS workflow, analysis, interpretation and reporting service. While some clients only require the cloud-based CGW platform, many clinical labs are not prepared to fully support in-house NGS program. The company empowers such customers through the NGS Gateway Program, a turnkey set of genomic tests performed in a CLIA-certified lab.

"This “one-space” solution is PierianDx’s Clinical Genomicist Workspace (CGW) that provides a data-driven ecosystem for clinical labs to launch or expand their NGS testing programs"

Clinical labs can also run quicker diagnosis through PierianDx’s genomic testing platform that produces a PDx Score giving clinicians prioritized, actionable and deeply informed data. The PDx score is generated through a proprietary algorithm developed by computational geneticists to help determine the clinical relevance of individual variants in the context of a patient’s disease. Each score is produced through a computational process that mines PierianDx’s knowledgebase to associate the most relevant clinical information with the patient’s genetic data. The PDx knowledgebase leverages multiple databases to analyze and classify each detected variant so that the most clinically actionable results can be delivered. The company’s robust knowledgebase includes curated publications, biological information, computational predictions, population frequency data, clinical research and trial correlations, database reported disease variants, FDA drug labels and treatment guidelines, and PierianDx Partner Sharing Network content.
PierianDx also fortifies clients with a private domain to store the patient health information that is well-established and adhere to accepted principles to ensure the protection of this information to minimize downtime. PierianDx has a scalable computational infrastructure that ensures that its customers’ patient cases are processed efficiently and rapidly, making the informatics, interpretation, and reporting processes a minimal component of the overall turnaround time. Also, to ensure compliance, PierianDx manages its CGW software and knowledgespace on servers compliant with HIPAA and HITECH regulations and industry standards.

Charting the Path to Clinical Interpretations

PierianDx’s customer base comes from academic medical centers, cancer centers, health systems, and commercial labs such as Cleveland Clinic, Aventus Biolabs, and Dartmouth-Hitchcock Medical Center. In fact, recently six leading healthcare systems and academic medical centers have chosen PierianDx’s “one-space” genomics software solution, CGW, to streamline clinical lab functions. Each of its clients has a unique workflow established in their clinical lab, which needs to be adapted to handle the new challenges of genomic testing. The company helps clients in every step of the way, from implementation through initial test validation, to integration of genomic patient data into their Electronic Medical Record (EMR). The result is improved workflow and analysis, from DNA sequencing to a final clinically actionable report.

The company’s CGW now supports clinical microarray (CMA) technology—used to evaluate complex developmental disorders while identifying one or more relevant clinical phenotypes in the patient. By integrating CMA with CGW, PierianDx’s goal is to offer an integrated molecular diagnostics workflow. CMA will enable PierianDx to add clinical interpretations and previously interpreted copy number alterations to its knowledgebase. Besides, the company has also introduced clinical interpretations as part of its NGS portfolio. These services combine the expertise of medical directors and genomic scientists through powerful interpretation tools inherent in PierianDx’s technology platform. Clients can choose from various interpretation service offerings to adapt to their resource needs.

With the objective to take their technical prowess to the next level, PierianDx will continue to expand its partner sharing network in the U.S. and other countries worldwide by building on its CGW platform. In the ever-growing genomics world, the firm stays true to its philosophy of staying nimble and providing high-quality services while enabling every implementation of CGW and helping its clients accomplish better patient outcomes through its NGS solution.
- Khyati Dubal
    December 19, 2017