Úsek pro vědu a výzkum

Department of Molecular Genetics

The department is included in the Complement of the laboratories of the IHBT. It continuously advocates an independent and impartial assessment of the professional competence of the Complement of Laboratories according to the ČSN EN ISO 15189 standard, the application of which is verified by the Czech Institute for Accreditation. The test methods within the scope of accreditation are defined by the Appendix to the Certificate of Accreditation in the current version, which is available on the IHBT website.

The Department of Molecular Genetics is focused on the detection of BCR::ABL1 transcript fusions in total leukocytes isolated from peripheral blood and bone marrow samples from patients of the IHBT. It also performs routine molecular monitoring of measurable residual disease (MRD) in patients with chronic myeloid leukemia (CML) and Ph+ acute lymphoblastic leukemia (ALL), and detection of mutations in the BCR::ABL1 kinase domain that cause resistance to treatment with tyrosine kinase inhibitors. Other tests provided include analysis of a panel of fusion genes that occur in ALL patients and pharmacogenotyping of single nucleotide polymorphisms associated with response to imatinib treatment. In addition to these specialised diagnostics, the department collaborates internationally on standardising MRD monitoring and clinical trials.

The department's research activities are focused at improving the molecular diagnosis of CML and ALL for clinical practice using new technologies (e.g. next-generation sequencing, droplet digital PCR). The primary aim is to identify and detect early and clinically relevant markers of resistance to treatment and to evaluate effective personalised therapy for patients at advanced stages of the disease where conventional therapies often fail. These efforts are supported by both in vitro and in vivo research. The projects also study other molecular mechanisms of disease (e.g. the development of mutations in cancer-associated genes, epigenetic regulation in healthy and leukaemic haematopoiesis, the role of drug transporters in response to imatinib treatment and its side effects).

The laboratory works closely with the physicians at the IHBT who provide care for patients with CML and ALL.

The Department of Molecular Genetics organizes annual interlaboratory comparison of tests for "Diagnostic determination of the BCR::ABL1 fusion gene" and once every 2 years interlaboratory comparison of tests for "Quantitative determination of M BCR::ABL1 transcript level" and "Detection of mutations in the kinase domain of BCR::ABL1".

The Department of Molecular Genetics is also a training facility for undergraduate and postgraduate students and provides specialisation training for higher education institutions (HEIs).

The staff is bound by confidentiality according to the Health Services Act, 372/2011 Coll.

Confidence and high data security is one of the basic priorities within the activities of the Complement of Laboratories of the IHBT. The established procedures are carried out in accordance with the Personal Data Processing Act 110/2019 Coll. and Regulation (EU) 2016/679 of the European Parliament and of the Council of 27 April 2016 on the protection of natural persons with regard to the processing of personal data and on the free movement of such data, and repealing Directive 95/46/EC. More information is available on the IHBT website.