Accurate identification of disease-causing genetic alterations is crucial for refining the diagnosis and treatment of blood cancers. The broad gene panel for myeloid malignancies, a subset of blood cancers, developed by Genomic Medicine Sweden in collaboration with SciLifeLab, provides the basis for cost-effective and equitable diagnostics in Sweden. The results were recently published in the journal Genes Chromosomes and Cancer.
The new gene panel, GMS-MGP, makes it possible to investigate mutations in about 200 genes, which provides important information in the diagnosis, follow-up and treatment of a large subgroup of blood cancers, so-called myeloid malignancies. This will improve the care and treatment of patients with these diseases. The new gene panel also covers areas of the genome that are difficult to analyze and shows 100% accuracy in comparative tests with other methods used in routine care.
Christina Orsmark-Pietras. Photo: private.
“International guidelines require all patients with myeloid malignancies to be tested for around 20 genes that control treatment. But with the new gene panel we have developed, we are future-proofing diagnostics and treatment for patients with myeloid leukemia as the state of knowledge is moving rapidly. Including more genes can also help to rule out disease,” says Christina Orsmark-Pietras, first author and associate researcher, Department of Clinical Genetics, Lund University and senior molecular geneticist, Section Molecular Diagnostics, Region Skåne.
The gene panel has been validated in a study with 323 patients and has been compared nationally between four laboratories with very consistent results. It has now been implemented at most university hospitals in Sweden, where over 8,000 clinical samples have already been analyzed.
Thoas Fioretos.
“The introduction of this gene panel for myeloid malignancies into routine care is an excellent example of how we move from the development of new diagnostic tools to their application in healthcare. The collaboration between SciLifeLab Clinical Genomics, GMS, and the university hospitals has been essential in allowing us to use the same gene panel for diagnostics across the country,” says Thoas Fioretos, Professor and Chief Physician at Lund University/Medical Service, Region Skåne, co-chair of GMS Hematology and Director of SciLifeLab Clinical Genomics.
Lucia Cavelier. Photo: private.
“There is a great patient benefit in using these broad gene panels. One challenge has been to get all laboratories to agree on the content of the gene panel and to participate in the evaluation. After all, regional healthcare means that there is no one saying that a certain method should be used. However, the project has allowed us to have a stronger collaboration between the healthcare regions in Sweden, which will benefit the further development of precision diagnostics,” says Lucia Cavelier, hospital geneticist at Karolinska University Hospital, co-chair of GMS Hematology and co-director of the SciLifeLab Clinical Genomics platform.
The new gene panel will facilitate not only improved diagnostics, but also future research to better understand blood cancers and tailor treatments to individual needs.
Publication
”Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture-Based Gene Panel”. Christina Orsmark-Pietras, Anna Lyander, Claes Ladenvall, Björn Hallström, Anna Staffas, Hero Awier, Aleksandra Krstic, Panagiotis Baliakas, Gisela Barbany, Cecilia Brunhoff Håkansson, Anna Gellerbring, Anna Hagström, Eva Hellström-Lindberg, Gunnar Juliusson, Vladimir Lazarevic, Arielle Munters, Tatjana Pandzic, Mia Wadelius, Joel Ås, Linda Fogelstrand, Valtteri Wirta, Richard Rosenquist, Lucia Cavelier, Thoas Fioretos; SciLifeLab Clinical Genomics Platform and Genomic Medicine Sweden. Genes Chromosomes Cancer. 2024 Jul;63(7):e23257. doi: 10.1002/gcc.23257.
Image: SciLifeLab Clinical Genomics Solna. Photo: Samuel Avraham.