Blueprint Genetics, founded in 2012 by Finnish founders at Stanford University, has grown from a small startup into a major international player in the field of genetic diagnostics for hereditary diseases. The company processes samples from around the and serves doctors in over 70 countries. Over the years, Blueprint Genetics has helped countless patients obtain the correct diagnosis and treatment.
Tuuli Pietilä joined the team in the early stages of the company's development. As Blueprint Genetics evolved from a startup to a significant global diagnostics provider, Tuuli’s role has also expanded. She has taken on various responsibilities and currently oversees a team focused on clinical development and continuous process improvement.
Tuuli is particularly passionate about the diversity of her work and the opportunity to solve challenging cases. She describes her work as being similar to detective work, where she and her team search for answers to patients' complex hereditary problems. While most of the cases involve routine diagnostics, some require more in-depth analysis, where Tuuli's teams expertise in combining molecular genetic methods with data, is critical.
Sequencing technology is evolving rapidly and new more powerful sequencing methods and bioinformatic tools are opening new options for genetic research. New research methods are providing more accurate information for example from non-coding regions of DNA and helping Blueprint genetics team to better understand the mechanisms of hereditary diseases.
Although Blueprint Genetics has grown significantly and is now part of the larger international company Quest Diagnostics, its core mission remains the same: the patient is always at the center of their work. Tuuli emphasizes that even though the company processes large volumes of samples, there is still the opportunity to focus on individual patients, especially when dealing with complex cases.
Tuuli has always been interested in molecular biology, medicine and helping people. She finds the most rewarding aspect of her job is when, after thorough investigation, a solution is found that helps the patient receive a diagnosis — and possibly even treatment. She feels privileged to work in a field where scientific breakthroughs can change patients' lives.