Our group has been involved as partner in several large projects, described below.
BigMed was an ambitious project aiming to identify and address the barriers to Precision Medicine in Norway. Funded by the Norwegian Research Council (IKTPLUSS Lighthouse) and a handful of dedicated partners, the project aimed to create a platform for further leaps and help nourish an expanding ecosystem of partners from the clinical, academic and commercial worlds.
BigMed’s main objective was to identify and address the bottlenecks in precision medicine. Specifically, this meant developing and demonstrating implementation tools that create value for patients and clinicians alike. Each of the four clinical focus areas in BigMed had different needs that were addressed by the development of different tools.
For monogenic diseases, standardized patient phenotyping and data sharing are very important for increasing the diagnostic quality. Our research group has collaborated with SciLifeLab, DIPS and DNV GL to develop phenotyping tools, variant databases and data sharing solutions based on standards developed by the Global Alliance for Genomics and Health (GA4GH).
ICT platform for personalized medicine (GeniOUS)
The project ICT platform for personalized medicine (GeniOUS) aimed to develop solutions for the efficient and safe use of genetic high-throughput sequencing data in diagnostics and translational research, with a particular focus on involving the patients themselves. The project involved further development of ELLA (software for interpretation of genetic variants), the Pharmacolyzer (a solution for pharmacogenomics), as well as solutions for communication between patients and the health care system, health economic analyses and suggesting refinements to existing legal frameworks for the use of HTS data.
Application of sequencing data to tailor medical treatments
The introduction of whole-genome sequencing in clinical practice has opened a path for pre-emptive pharmacogenomic (PGx) testing. PGx is the study of how genetics influences medication of patients. Funded by a grant from the South-Eastern Norway Regional Health Authority and BigMed, and in collaboration with Electronic Health Record vendor DIPS and the Department of Pharmacy, UiO, this project seeks to develop an end-to-end automated pharmacogenomics pipeline that can deliver actionable reports to openEHR-based systems with the aim of tailoring drug treatment to each patient’s genotype.