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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2018: Population Studies, Immunotherapy, CRISPR, Genomic Medicine,…2019

2018 was full of significant developments in the life sciences, precision medicine, genetics, and genomics sector. Highlights and notable news included various technological advancements, new clinical applications of next-generation sequencing, success in population studies, genetics moving into the clinic, artificial intelligence and machine learning investments and potentials, immunotherapy further establishing itself as the leading weapon to attack cancer, the CRISPR technology being under fire, and more.

The significance of these developments is further manifested by clinical omics taking shape, hospitals adopting new applications, and testing and treatments coming into play that are based on next-generation sequencing or omics data. The results speak a clear language: improved diagnostic tests, and more precise therapeutics.

Here a few highlights – not an all-inclusive summary – of what made 2018 so exciting. Find a more complete list of 2018 news on the enlightenbio Industry News site.

Population studies taking shape

Various population studies/initiatives took shape this year, as demonstrated with projects such as…

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Can 2017 top 2016?

In the life sciences, 2016 brought us many significant developments, and thank goodness, it’s mostly exciting and great to talk about those in length. I am talking here about technological advancements, the many new applications next-generation sequencing is seeing, genetics moving into the clinic, precision medicine finding its mark in oncology and beyond, immunotherapy establishing itself as the leading weapon to attack cancer, and more.

The significance of these developments is further manifested with clinical omics taking shape, hospitals adopting new applications, and testing and treatments that are based on next-generation sequencing, omics data, and more. The results speak a clear language: improved diagnostic tests, and more precise therapeutics.

Here a few highlights – not an all-inclusive summary – of what made 2016 so exciting.

2016

Next-generation sequencing matures

In 2016, we’ve reached a stage where the limitations of next-generation sequencing is not at the level of sequence data generation anymore, rather the limitations are associated 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

Looking back at AGBT 2015

This year’s meeting was in every way very much what was expected: a great set of science talks, a never ending networking event, and last but not least a product launch point. Instead of summarizing what has been written up by many other great writers and bloggers on a daily basis, here just a few highlights accompanied by the announcements that went hand-in-hand with this event. For convenience purpose, and to have it all in one place, I listed the different blog posts reflecting on AGBT 2015.AGBT_2015

A great resource of the different AGBT activities and highlights can be found in the following blog posts written by Genohub, Pacific Biosciences, Golden Helix, DeciBio bloggers, Bio-IT World, and NextGeneSeq Report. Continue reading