Blueprint Genetics Aims to Automate and Improve Clinical Interpretation Processes with Software That Will Change the Industry

This month’s “Company Spotlight” takes a closer look at Blueprint Genetics, a rare disease diagnostics company on a mission to deliver the highest quality standards for genetic diagnostics.

Tero-Pekka Alastalo, Chief Medical Officer of Blueprint Genetics discussed with us in detail Blueprint Genetics’ offerings, its approach to developing high quality diagnostics standards, and its vision to connect physicians across the globe to help them identify and address unique rare disease cases faster.

Blueprint Genetics is a company that started with an intellectual property, the OS-Seq™ Technology, developed at Stanford by a Finnish researcher. The company thus is bi-continental with headquarters both in the US (San Francisco) and in Finland (Helsinki). The 150-person company was founded in 2012 by Juha Koskenvuo, Samuel Myllykangas, Tero-Pekka Alastalo, and Tommi Lehtonen. Blueprint to date has secured $26.3M in funding which will be used to get closer to Blueprint Genetics’ vision to bring the use of genetic information to mainstream healthcare with uncompromised high quality, by elevating the sequencing technology and clinical data interpretation platform to the next level with increased efficiency and level of automation.

The following summarizes questions and answers from my dialogue with Tero-Pekka Alastalo.

EB: Tell us more about Blueprint Genetics. What is the history of Blueprint Genetics from when you started to today?

Tero-Pekka Alastalo: Originally Blueprint Genetics was a Stanford University spin-off. The company was founded around an innovative new Stanford DNA sequencing technology, the OS-Seq™ Technology (Nature Biotechnol., 2011), developed by a Finnish post-doc (Samuel Myllykangas). I myself am a medical doctor by training with expertise in pediatrics and pediatric cardiology. We got very excited about this innovative targeted sequencing technology and its opportunities in diagnostics. Since our initial career plans were to return back to Finland to continue our clinical and academic careers, we founded Blueprint Genetics in Finland in 2012. With Stanford being the place where the technology was developed and owned, we knew from day one that Stanford will always be a very close partner.

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Now Available: Individual Clinical NGS Process Report Chapters

We are currently offering the individual chapters and the full report at a 10% discount with promo code 10OFFCLINNGSNOW.

The recently released Clinical NGS Process Reportreleased January 12, 2018 – 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.

You spoke – we listened: To make this report more accessible to individuals that only have an interest in a section we are now providing access to individual chapters. The following chapters are now available for separate purchase:

  1. Clinical End-User Feedback
    1. Conducted a series of end-user interviews to understand clinical needs, testing lab preferences, and challenges when receiving clinical variant data and communicating findings to the physician and the patient.
  2. Clinical NGS Market Trends
    1. NGS adoption challenges.
    2. Innovations and technology trends impacting clinical NGS applications.
    3. Mergers and acquisitions impacting clinical NGS.
  3. Ten Years of NGS Patents
    1. 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.
    2. Top patent assignees across all NGS patent families.
    3. Contributed by our partner company Pramoedya Biointelligence.
  4. Clinical NGS Projects/Initiatives
    1. Detailed review of 38 global human genome-based initiatives.
  5. The Clinical NGS Data Analysis & Interpretation Ecosystem
    1. Evaluated 26 key commercial software and platform providers 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.
  6. Company/Product Profiles
    1. Reviewed 26 key companies with comprehensive solutions across the entire Clinical NGS Workflow, including genetic testing/diagnostics service providers their product focus, offered capabilities, and their strategy to address end-user needs, and more.

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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.

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The Need to Address the Ensuing Data Explosion is Imminent

Clearly, the DNA sequencing technology has matured and is continuously being optimized for performance while becoming increasingly affordable, thus opening an era of reliable and foreseeable quality data growth demanding high computational resources and data storage. With the rise of varied applications, be it in cancer research, infectious diseases, and other therapy areas, and with the launch of large initiatives (e.g. The Precision Medicine Initiative (PMI)), the need to address the ensuing data explosion is imminent.

Oncology is the dominant sector that currently benefits from next-generation sequencing followed by applications in inherited and rare disease understanding, infectious disease, the microbiome, and others. It is expected that soon, agriculture will also benefit from the technological developments that currently help propel both biomedical research and the clinical sector. Continue reading

Just Released – Our New NGS Data Analysis & Interpretation Ecosystem Analysis Report

Palo Alto, CA, August 22, 2016 – enlightenbio LLC, today announced the publication of its NGS Data Analysis & Interpretation Ecosystem Analysis Report. This new report details an extensive ecosystem analysis of 25 commercial companies in the NGS data analysis and interpretation space, market trends, unmet needs and challenges. 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 ecosystem analysis.

ImageReportNGSAnalysisEco

This comparative ecosystem analysis of key commercial data analysis and interpretation tool providers reveals a range of capabilities that uniquely address both secondary and tertiary sequence data analysis needs. At first glance, the value propositions and communication of capabilities may seem overlapping or similar. However, a deeper analysis clearly uncovers substantial differences in the product characteristics related to analysis and interpretation, data management, data sharing and collaboration, reporting of findings, compliance and security mechanisms, and type of content made available for meaningful knowledge extraction.

While this report does not intend to provide direct recommendations to end-users for Continue reading

enlightenbio Customer Spotlight: Lab7 Systems Product Definition, Strategy, and Positioning

Lab7 Systems Enterprise Platform Product Roadmapping and Feature Definition

In this series of “Customer Spotlight” blog posts, we profile some of our valued customer companies to give our readers a sense of what specific projects we are doing to advance their goals towards building solutions that are embraced by their customers and the scientific community.

This month we’re focusing on Lab7 Systems, a leader in developing an enterprise Lab7 logoscience platform (ESP) for the management of next-generation genome sequencing (NGS) samples, data, and workflows. Their comprehensive sample-to-answer data management software is designed for the researcher and the clinician: besides enabling sample and genomic workflow management, there is an established need to visualize and annotate identified variants with clinically relevant information, and to allow creating sharable, actionable reports achieved via a configurable Analysis Pipeline Manager. Lab7’s ESP platform is built with a vision to reduce the level of
hands-on data management by lab technicians, research scientists, bioinformaticians, and IT teams who are in many instances struggling with the massive amounts of next generation sequencing data that are being generated and processed. As such, Lab7’s Continue reading