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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Diploid Tackles the Challenges of Rare Disease Diagnostics

enlightenbio is excited to introduce our new “Company Spotlight” blog series where we will review some of the exciting work that is currently ongoing in up- and-coming companies. Moving forward we plan on reviewing and profiling some of these companies and their products on a regular basis.

At ASHG, I had a chance to meet with Peter Schols, CEO of Diploid, a small seven person company located in Leuven, Belgium. I took this opportunity to learn more about Diploid, and Moon, the software the company has built, and its intended application to help diagnose rare disease.

The following summarizes questions and answers from my dialogue with Peter Schols.

EB: Tell us more about Diploid – what need are you trying to address and what services do you offer?

PS: Diploid is a privately funded, rare disease diagnostics company founded in 2014. Diploid started with offering an interpretation service, helping our customers analyze rare disease sequence data. Customers send us NGS data of a patient together with a description of the phenotype, and we deliver a report listing the most likely candidate variants. We focus exclusively on rare disease testing and currently support the Continue reading