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Just Released – Our New Clinical NGS Process Report

Palo Alto, CA, January 12, 2018 – enlightenbio LLC, today announced the publication of its Clinical NGS Process Report. This new report details the observations and learnings across the complex, multi-step informatics aspects following clinical NGS sample preparation and sequencing, and which includes data analysis, knowledge extraction, and clinical reporting of actionable findings. Market trends, including listing of major initiatives, merger and acquisitions, and a summary of patents are detailed within this report, while also highlighted are clinical customer/end-users’ unmet interpretation and knowledge extraction needs and challenges, and genetic testing lab preferences. Finally, an extensive comparison of solution providers in the SaaS and PaaS sector for the analysis and interpretation of clinical NGS data is included. The report is unique, in that it is not a predictive market research report, but rather builds on data gathered from many end-user interviews combined with an extensive analysis of the clinical NGS sector.

While this report does not intend to provide direct recommendations on commercial offerings, the deep-dive analysis is an insightful review to help clinicians, researchers, commercial entities, and investors choose the best partner for success.

For a limited time only, apply Promo Code 10OFFCLINICALNGS and get 10% off when purchasing the report – valid until February 14, 2018.

Download Table of Contents to learn more about the report specifics



Report Content

The impact of next-generation sequencing on genomic medicine is tremendous – the success of the first era of the human genome revolution created a stable foundation for today’s discoveries. Technology development has allowed us to sequence and uncover mutational events at unprecedented scale and facilitates linking genomic data to high quality clinical data and diagnosis. As a result, data management and genomic analysis tools are rapidly developed – a critical necessity to manage and make sense of the data to benefit research, the drug discovery process, and, of course, the clinic. Adoption and implementation of NGS and genomics discovery technologies have advanced clinical assessment of genomic alterations associated with oncology, hereditary cancer, cardiology, pediatrics, rare disease, among others. The next logical goals for NGS solutions, besides risk detection and disease identification, are disease prevention and management. The multi-faceted, complex Clinical NGS Workflow demands powerful, yet user-friendly, solutions across the entire process.

To create our robust comparison, we followed a research path rooted in these questions: who are the clinical end-users and what are their unmet needs and challenges; who are the key commercial solution companies and what products do they offer; who are the genetic testing service providers and what services do they provide? When researching the analysis and interpretation market, what needs do these companies address with what product capabilities, and how do they compare across the ecosystem of solution providers?

  • End-user interviews: Conducted to understand clinical needs, testing lab preferences, and challenges when receiving clinical variant data and communicating findings to the physician and the patient.
  • Meta-Data analysis: Performed a deep-dive interrogation of individual software, platform solutions, and genetic testing providers with publicly available information on the internet.
  • Patents analysis: Studied the last ten years of NGS assignees across all NGS patent families, number of patents of leading commercial companies, and clinical-grade genetic/diagnostic testing providers.
    Patent analysis contributed by our partner company Pramoedya Biointelligence.
  • Deep ecosystem level analysis: Evaluated key commercial software and platform providers (N=23) that offer a clinical NGS analysis or interpretation solution, to understand their product focus and offered capabilities, their strategy to address end-user needs, and more.
  • Company/product profiles: Reviewed key companies with comprehensive solutions across the entire Clinical NGS Workflow (N=26), including genetic testing/diagnostics service providers their product focus, offered capabilities, and their strategy to address end-user needs, and more.
  • Key representative input: Interviewed company representatives of established commercial software product suppliers to learn about their vision for product solutions in the current and future product solutions space.


A comparative analysis with key players in the secondary and tertiary analysis space provides an understanding of product focus, strategy to address end-user needs, and status of specific providers (funding, strategic investments and partnerships, number of employees, and more). A subset of 23 companies shown in this graph is included in this comparative analysis.

This 209 page Clinical NGS Process Report consists of 15 Figures, 97 Tables, and 26 comprehensive Company Profiles [10x Genomics, Agilent Technologies (Alissa Clinical Informatics – formerly Cartagenia), Bluebee, Blueprint Genetics, Congenica (Sapientia), DNAnexus, Edico Genome, Fabric Genomic, Genalice, Genestack, Genoox, Golden Helix (VarSeq), Illumina (BaseSpace), Invitae, Lab7 Systems, Oxford Nanopore, Pacific Biosciences, PierianDx, Qiagen (IVA & CLC Genomics Workbench), Seven Bridges Genomics, Sophia Genetics, Station X, Sunquest, Thermo Fisher Scientific, Veritas Genetics, WuXi NextCODE] which includes company metrics, funding sources, product details, founder/executive and board information, additional notes, and company visions.

We are very excited about this major report release that represents a significant milestone for us in our mission to bring up-to-date, concise information with translatable value to our customer community. This report is a wise and impactful investment that will help guide significant strategic decisions, avoid potentially costly mistakes for customers, and provide valuable insight to software and platform providers looking to address unmet user and stakeholder needs.



For more information contact info@enlightenbio.com or visit our website, enlightenbio.com.


Brigitte Ganter



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