Case Blueprint Genetics: Genetic knowledge for all, based on Big Data

Established in 2012, Blueprint Genetics is a genetic diagnostics company which aims to revolutionise genetic testing by making it part of health care services and accessible to the public. To enable this, genetic testing services must be of high quality and affordable, and the results need to be analysed quickly. The company uses a Big Data solution to handle diverse genetic data, enabling the efficient processing and analysis of data, and partial automation.


The objective of Blueprint Genetics is to lower health-care costs by offering genetic testing services at the lowest market price, while achieving top quality. The company’s DNA sequencing solution enables high-quality genetic analysis efficiently and at low cost. In addition, the company aims to offer testing of conditions that were once impossible to diagnose. The future looks promising.

According to Tommi Lehtonen, CEO, genetic testing is gaining ground fast.

”Within the next five years, we will see exponential growth in the field of testing, as genetic testing will become the norm among healthy people with an interest in their own genotype”

 Blueprint Genetics is also a unique company in terms of quality of testing. The tests offered by the company are leading the way globally, and are used by more than 200 hospitals around the world. In addition to diagnoses, the company seeks to offer highly advanced analysis services that set it apart from the competition.

”Our solution is a complete package; in addition to information and data, we offer patient-specific genetic knowledge in a clinical final statement prepared by geneticists and physicians,” says Mr Lehtonen.


The company began using the IBM Watson Explorer, which enabled the efficient processing and analysis of genetic data. The solution was selected due to positive experiences of Watson Explorer in other health care branches and because features such as the ability to process large amounts of medical literature, met the needs of Blueprint Genetics.

Enfo was selected to implement the project due to recommendations and its experienced specialists. In addition to Watson, Blueprint Genetics use Enfo’s 360 View. The View has provided flexibility and the opportunity to develop the system according to the needs of Blueprint Genetics. Genetic data is highly complex and fragmented, which makes it difficult to process efficiently. The 360 View provides real-time access to relevant data in a flexible and rapid manner.


Thanks to IBM Watson,  the company was able to cut the amount of manual work by 80%, thereby reducing the test turnaround time and increasing cost-efficiency and systematics. With some of the data analysis stages automated, our geneticists can use their time to analyse the results and prepare statements. The speed of the system and the high quality and accuracy of testing enable us to offer reports, prepared by geneticists, while providing the most comprehensive and actionable information on the market. So far, the story of Blueprint Genetics has been successful; with the support of the IBM Watson Explorer technology, the company is guaranteed to continue expanding its operations vigorously in the future. This represents a huge leap, increasing the selection of tests tenfold to include hereditary diseases in all medical fields. It would not be possible without the project implemented alongside IBM and Enfo Rongo. It is safe to say, then, that the key to product management lies in the system.