Blueprint Genetics: Groundbreaking sequencing method combines quality and cost-effectiveness in genetic testing

A DNA sequencing method developed by Blueprint Genetics helps in analysing genes. At the moment clinics around the world are utilising the company's targeted gene tests in the diagnosis of hereditary diseases.

The groundbreaking OS-Seq method of the diagnostics company Blueprint Genetics for the DNA sequencing process came about as the result of a classical research invention, says CEO Tommi Lehtonen.

"Blueprint Genetics was founded by clinicians Tero-Pekka Alastalo and Juha Koskenvuo, and biologist Samuel Myllykangas. Myllykangas developed a targeted sequencing method in 2009–2011 at Stanford University in order to analyse genetic factors that cause a predisposition to disease", Lehtonen says. The idea of a company built around the new technology arose quickly and Blueprint Genetics was founded in 2012.

Tekes funding helped commercialise research

According to Lehtonen, genetic testing is used in clinical work as a diagnostic tool in much the same way that imaging is used. Clinical use involves a patient suspected of suffering from a hereditary disease and the aim is to get a diagnosis for the patient. The difference between Blueprint Genetics and other players is the high quality and accuracy of the test and combined with low cost and fast turnaround time.

"Certain tests involve significant questions of cost-effectiveness in clinical work in hospitals. With targeted sequencing it is possible to offer a diagnosis in cases in which the disease could not otherwise be identified, and the clinic could not make progress with the patient", he explains.

In the Tekes BioIT programme, Blueprint Genetics developed its solution for commercial production and improved its cost-effectiveness.

"In the project we concentrated on product development of scalable genetic diagnostics, and the goal was to bring the method into production. With funding from Tekes we created a production process in which the scientific method is applied to commercial use, and we productised it", Lehtonen says.

Readiness to diagnose thousands of hereditary diseases in 2015

There are about 3500 serious hereditary diseases in the world with known molecular genetic background, which are divided into 13 categories. Blueprint Genetics currently offers diagnostic tools for one category - serious hereditary cardiovascular diseases. According to Lehtonen, the pilot category was selected based on the background of the founding team and the commercial potential.

"Cardiovascular diseases are one of the biggest categories of hereditary disorders. Recommendations for genetic testing taking place at a clinic have also had extensive development in cardiovascular diseases. We have been on the market for over a year with the pilot category. Now we have the results and validation done, and we can invest in new categories", he says. Lehtonen believes that Blueprint Genetics will offer diagnostic solutions to all categories of hereditary diseases already in 2015.

Possibility for more patient-oriented solutions in the future
At present there are clinics using Blueprint Genetics in 15 different countries, and half of the company's business comes from abroad. Tekes has helped the company also in internationalisation. In 2014, Blueprint Genetics opened an office in San Francisco.

"We are becoming as international as we can. Different health care environments naturally impose their own requirements. For instance, the United States and Europe have their own quality system requirements. In addition to regulations, reimbursement systems create their own limitations", he says.

The aim of Blueprint Genetics is to expand its share of the international market, as well as to move toward a more patient-oriented service.

"In our opinion, NGS sequencing technology is not applicable to the consumer market at the present moment. However, the technologies develop and the regulations will allow solutions that are more patient-oriented. We also have thoughts about how diagnostic tools could be brought closer to patients", Lehtonen reveals.

Further information

CEO Tommi Lehtonen
Tel. +358 44 7700 411
tommi.lehtonen (at)

Text: SST Viestintä
Photo: iStockphoto

Pia Mörk