NBIS contributes to new diagnostic test in ovarian cancer
An NBIS Partner Project with the research group of Johan Lindberg (KI) and collaborators, including Markus Mayrhofer (NBIS), continues to contribute precision medicine applications to the clinic. Karolinska University Hospital, as the first Swedish hospital, now provides the first in-house developed test for analysing genomic instability in patients with ovarian cancer.
Each year, ovarian cancer affects 650 women in Sweden, of whom approximately 60% could benefit from HRD testing. Cancers with homologous repair deficiency (HRD) are eligible for treatment with PARP inhibitors, which have been shown to improve outcomes specifically in this subgroup. Previously, patient samples were sent to Copenhagen for analysis using a commercial method. With the in-house HRD test, the entire treatment chain is now performed internally at Karolinska University Hospital, ensuring that both samples and data do not leave the hospital.
“This is a significant advancement for patients with ovarian cancer in Sweden. Our test is not only faster and more sensitive, but also allows us to include more patients in treatments and future research,” says Johan Lindberg.
The in-house HRD test workflow is the result of extensive collaboration between Johan Lindberg’s team, the Department of Clinical Pathology, Genomic Medicine Center Karolinska (GMCK), Karolinska Institutet, and two SciLifeLab platforms (Clinical Genomics and NBIS). The test features a variant of the widely established genomic instability score (GIS), adapted for use with the GMCK sequencing panel. This GIS score, developed by Markus Mayrhofer of NBIS, complements the GMCK sequencing panel’s high performance in detecting relevant mutations in the HRD-related BRCA1/2 and other clinically relevant cancer genes (see also KS Press release).
