Clinical Genomics Uppsala celebrates 10 years of translational research and precision medicine
Genetic analyses offer great potential for improved and personalized diagnostics and treatment. The SciLifeLab Clinical Genomics unit in Uppsala has, during its first ten years, contributed to the development of 85 diagnostic tests that are routinely used in healthcare. The advancements were celebrated with a symposium on September 3rd.
“It was fantastic to be able to collect so many people from the SciLifeLab community, healthcare and industry to listen to some of the important results from our work and discuss the future of precision medicine,” says Malin Melin, head of Clinical Genomics (CG) Uppsala.
The national Clinical Genomics platform was established in 2014 to facilitate the translation of new genomic techniques into clinical use.The mission of the platform is to develop genetic diagnostics in collaboration with healthcare and to offer services to promote translational research and clinical studies.
“CG Uppsala serves as an important collaborative link between the university and healthcare, helping us keep pace with rapid technological and scientific advancements, as well as developing the precision diagnostics required for precision medicine,” says Tommie Olofsson, Director of the Academic Laboratory at Uppsala University Hospital.
During the first ten years, CG Uppsala has contributed to the introduction of 85 diagnostic tests for cancer, hereditary diseases, and infectious diseases in clinical routine.
“The improved diagnostics have, for example, led to that patients with hematological cancer, particularly leukemia, can receive faster diagnostics and targeted treatment. This, in turn, leads to prolonged survival, fewer side effects compared to traditional chemotherapy, and improved quality of life,” says Panagiotis Baliakas, senior physician/associate professor in clinical genetics and director of CG Uppsala.
According to Panagiotis Baliakas, CG Uppsala has also contributed to the use of highly sensitive methods to monitor patients with leukemia after completed treatment to identify potential relapses at an early stage and act when it is still possible to treat the cancer.
“In the coming ten years, we expect this type of genetic diagnostics to increase significantly, enabling more precise diagnoses and personalized treatment in a range of disease areas. The technological development will also continue. For example, we are currently working on developing clinical applications of long-read sequencing. This technology generates longer sequence reads than the methods currently used in the clinic and can more easily identify disease-causing structural changes in the genome,” concludes Panagiotis Baliakas.
Examples of projects at Clinical Genomics Uppsala
- Development of various gene panels for the diagnosis of different forms of cancer. The gene panels include diagnostic, prognostic, and treatment-guiding markers and were used to analyze approximately 2,700 clinical cancer samples in 2023.
- The introduction of exome and whole-genome sequencing has led to faster and better diagnostics of rare hereditary diseases. In 2023, approximately 2,300 samples were analyzed using these methods. The demand for these analyses has increased significantly in recent years. To meet the ever-increasing demand, CG Uppsala contributed to establishing new sequencing equipment (NovaSeq X plus) in clinical routine during the spring of 2024.
- Within the framework of clinical studies, various methods for ultra-sensitive detection of genetic variants have been developed and tested. Rapid and sensitive detection methods are important for monitoring how cancer patients respond to treatment. The research resulted in that new methods were implemented for clinical routine diagnostics.
For more information about services and possibilities for collaboration, visit the website of CG Uppsala or request a meeting.
