Blueprint Genetics delivers genetic testing results for rare inherited diseases in weeks rather than months, speeding up treatment

Sep 27, 2016 · 3 min read

Medical genetics firm’s ambitious growth plan comes to fruition with help from IBM Cloud and IBM Watson

When someone decides to undergo testing to confirm or rule out a genetic condition or the chance of inheriting or passing it on, it’s essential to have accurate results. In addition, once the decision to test has been made, no one wants to wait months for the answer. That’s why more than 240 hospitals in 20 countries count on Blueprint Genetics to perform their tests.

Since 2013, Finland-based Blueprint Genetics has supported healthcare professionals around the world who care for patients with rare inherited diseases by delivering answers using fast, accurate and comprehensive genetic diagnostics. The company takes samples from hospital clinicians and then performs four basic steps in its testing process — the laboratory work, sequencing, data analysis, and interpretation — and then delivers comprehensive genetic test reports to clinicians.

The company is well on its way to its goal of becoming a medical genetics one-stop shop. From its humble beginnings of offering 20 different cardiovascular tests, Blueprint Genetics now offers 400 different tests across a variety of medical specialties ranging from cancer to immunology to metabolic diseases and the more than 3000 different conditions within them.

How did Blueprint Genetics accomplish this jaw-dropping growth in less than six months?

Beyond implementing robotics to handle the laboratory work, adding more machines to increase the sequencing capacity and adding more computing power to crunch the additional data; the really big scalability challenge was in the step of interpreting the data.

This aspect of testing requires a human component: a professional team of geneticists and clinicians to look at the data and correlate it with existing literature and databases, and collect a vast amount of data from different sources. It’s a highly manual process.

What led Blueprint Genetics to IBM was knowledge that IBM has solved big data challenges in other industries, such as financial markets with stock market analysis. Blueprint Genetics felt confident that Watson technology with its natural language analysis capabilities was what it was looking for, because a lot of the information the company uses is buried in complex sources like literature and tables and medical journals.

IBM Premier Business Partners Enfo Rongo and Elinar Oy, Ltd. worked with Blueprint Genetics to develop a hybrid cloud solution that uses IBM Watson Explorer along with IBM data and analytics offerings to store, analyze, and manage the data at scale through their processes. Enfo Rongo, which specializes in big data technologies, helped to take the idea from concept to real-world implementation. Elinar delivered the workflow management aspect of the solution. The actual gene sequencing is done on premises due to the sensitive, proprietary nature of the data, and the rest of the solution runs on IBM Cloud.

IBM Watson enables efficient processing, analysis, and presentation of large quantities and varieties of data, as well as workflow management, in this single cloud-based solution. It has reduced the amount of manual work in gathering information by as much as 80%, which enables Blueprint to deliver results in as little as two weeks from the time the sample is submitted.

Blueprint Genetics envisions a time when genetic testing will become part of routine health care, thus improving quality of life.

IBM Cloud Stories

Written by

To read 2017 IBM Cloud Stories visit .

Welcome to a place where words matter. On Medium, smart voices and original ideas take center stage - with no ads in sight. Watch
Follow all the topics you care about, and we’ll deliver the best stories for you to your homepage and inbox. Explore
Get unlimited access to the best stories on Medium — and support writers while you’re at it. Just $5/month. Upgrade