Blueprint Genetics was founded in 2011 with a vision of disrupting the genetic testing industry by harnessing leading-edge information technology and robotics to automate the sequencing process and handle unprecedented volumes of tests and samples.
Its founders’ ultimate goal was to provide a one-stop shop for screening for the whole field of inherited disorders—over 3,000 types of disease in more than a dozen medical categories—and deliver results within weeks rather than months.
Our work involves receiving blood samples, performing the genetic sequencing in our labs, processing the output to turn it into human-readable data, and then interpreting that data and reporting our findings, says Samuel Myllykangas, CTO at Blueprint Genetics.
When we founded our business, it was common for genetic sequencing providers to take a month or more to deliver results. Now that we have the IBM solution, we’re achieving average turnaround times of just 14 days.
To help develop its new system, Blueprint Genetics consulted IBM.
The IBM team also helped us to structure the project and set sensible goals, as well as introducing us to two excellent partners here in Finland—Elinar and Enfo Rongo—who helped us with the development and implementation of the solution itself, says Samuel Myllykangas.
Elinar created the second part of the solution, which is a comprehensive workflow management system that structures the interpretation process, guides the analysts to work in a standardized and efficient manner, and pre-populates the final reports with as much data as possible to reduce repetitive manual work.
IBM Case Manager is used as the engine to drive the workflows, so that when a new sample has been analyzed, it is automatically assigned to the appropriate analyst. The sequencing data is then filtered twice: first to focus on the genes that need to be tested, and then to classify the analyst’s findings. Clinically relevant findings are automatically added to a reporting template, and the analyst can edit it and add commentary. Finally, the report passes through an approval workflow to check that everything has been completed correctly before it is sent to the customer.
Ari Juntunen, CTO at Elinar, comments: The Blueprint solution was a very good example of how IBM Case Manager can accelerate development cycles, even for very complex projects. We only needed to develop a few custom widgets—the vast majority of the functionality we implemented uses standard features that come with IBM Case Manager out of the box.
Where Elinar really added value was in understanding how our geneticists do their job, and working with them to design a workflow that would let them be more productive and efficient. – Samuel Myllykangas
He adds: Also, since we handle confidential medical data, it was imperative to ensure that the solution would protect patient privacy and comply with healthcare and pathology standards such as HIPAA, CLIA, CAP and ISO 15189. Elinar did a good job of leveraging IBM Case Manager’s robust security framework to help us meet these objectives.
With the new solution in place, Blueprint has already been able to increase productivity by 30 to 50 percent, and expects to see a three-fold increase in overall processing speed and capacity as its analysts gains more experience.
Over time, we expect to build up a knowledge base that will help accelerate the interpretation of more straightforward cases, says Samuel Myllykangas. This will not only speed up the interpretation process—it will also enable our analysts to spend more time focusing on the more unusual and interesting cases, where their expertise really counts.
As standard, we offer to deliver results within 21 days, and now that we have the IBM solution, we’re achieving average turnaround times of just 14 days. We see ourselves as raising the bar for the whole industry, and as we continue to build on the solution we’ve developed with IBM, Elinar and Enfo Rongo, we’re excited to see how much further we can raise standards in the future. – Samuel Myllykangas
Read the whole case story here.