Clinical implementation of long-read sequencing in diagnostics for leukemia and heritable cancer

Purpose and goal:

The goal with our project is to implement long-read sequencing (LRS) for diagnostics of leukemia and hereditary cancer. The LRS technology can detect several genetic variants that are missed by standard diagnostics. These genetic variants are today analyzed with old methods like FISH and chromosome analysis for complete clinical assessment in cancer, especially in leukemias. We want to change this and implement cost effective and fast LRS technology in the clinic.

Expected results and effects:

We estimate that the transition to LRS-based diagnostics will be able to shorten the response time by about 50% for patients with leukemia. Our project also involves improved diagnostics of hereditary cancer, which means that genetic variants that could not be identified before can now be detected or excluded. We want to be part of and lead the development of the implementation of LRS in clinical routine in Sweden and thereby contribute to faster and better analyzes with more patient benefit.

Approach and implementation:

Clinical Genomics Uppsala (CGU), SciLifeLab, is a collaboration between Uppsala University and the Academic Hospital. CGU works with translational and clinical research to bridge the gap between basic research and the hospital. In this project the tests of the LRS will be inserted into the daily working method that we have within CGU. Competence exists within CGU to meet e.g. laboratory and bioinformatic challenges. The work will also be continuously presented to our clinical advisory group.