"The little girl is already coming back to the doctor at the end of the week – could you send us the test results by then?" Requests like these from doctors motivate Thomas Wieland and his team to fire up the computer after hours or get up an hour earlier in the morning despite the winter twilight. Thomas is a team leader at Roche subsidiary , where he is responsible for quality control of data that can literally make the difference between life and death for patients.

Tracking the tumor

The European subsidiary "Foundation Medicine GmbH" on the Roche campus in Penzberg in Upper Bavaria subjects tissue material for patients from all over Europe to so-called Comprehensive Genomic Profiling. Similar to criminalistics, this involves creating a "perpetrator profile", in this case a comprehensive analysis of the molecular characteristics of the tumor. Several hundred cancer-specific genes are examined for mutations by Foundation Medicine's data detectives. The resulting profile often offers starting points for a promising therapy.

It is the interplay between Foundation Medicine's tests and new treatments such as cancer immunotherapy that brings hope to people who had almost finished with their lives. "Occasionally, patients visit us and tell us their story. They say things like, 'My lungs were completely filled with tumors. Just two weeks after starting treatment, I could breathe easier again, and after a month the tumor had disappeared,'" Thomas reports. It was the detailed tumor profile that put the doctors on the track to the right therapy.

Up to 25 gigabytes of data are generated in the profiling process, which usually follows the following pattern. The tissue material is delivered to Penzberg in the form of kerosene blocks. Assuming that the material is suitable, the genetic material of the tumor is extracted from it. In the next step, sequencing machines read out the genetic information and Foundation Medicine's in-house developed analysis algorithms search for mutations that have caused the tumor growth. The quality control that now follows is where Thomas and his team come in. "We check the results of the fully automated analyses on each individual patient and at the same time take care to keep developing the algorithms." In the final step, the report on any mutations present goes to a team of scientists, who then make recommendations based on current treatment guidelines and literature. The process typically takes nine to ten calendar days. 

Quality control by Thomas and his team requires a lot of expertise in various fields from computer science to biology, the 34-year-old says. He acquired his own expertise by studying bioinformatics, which, after a bachelor's degree in Austria, led him to King's College in London and then to a doctorate at the Helmholtz Center in Munich. There, he conducted research on the diagnostics of rare diseases, among other things. Thomas has now been at Foundation Medicine for just over three years. He has never regretted the change, which is not only due to the picturesque mountain landscape surrounding the Penzberg site, which offers the passionate hiker and skier a variety of opportunities.

"Genetic data is something very personal"

"Since we work directly with patient data, we get to see every day how we can positively influence other people's lives with our work. That's incredibly motivating, even though we don't know these people, of course," Thomas says. The only information he and his team receive is the date of birth and the diagnosis. And, of course, the tissue material. "The genetic data it contains is by nature as personal as a fingerprint" Thomas says. Foundation Medicine employees handle patients' health data with corresponding care, and data security and privacy standards are correspondingly high. Many patients agree to use the sequencing data obtained worldwide for research purposes, and so Foundation Medicine in Cambridge manages more than 450,000 tumor profiles - the equivalent of several petabytes of data. And the trend is rising rapidly. After all, new impulses for cancer research can only be generated through large amounts of data and their analysis, not the personal information of individuals – and for this, many patients are happy to share.

Data: an important building block for innovation in healthcare.

Patient and health data are not only becoming increasingly important for health insurance companies and university research. They are also playing an increasingly important role in the work of healthcare and biotech companies. As part of a series, we introduce specialists at Roche who work with data and explain how they use it.

Further information