Vol 63, No 1 (2013)
Invited article
Published online: 2013-03-08
Legal and methodological aspects of genetic diagnostic tests used to select cancer patients to molecularly targeted therapies
Nowotwory. Journal of Oncology 2013;63(1):1-7.
Abstract
Introduction of novel molecularly targeted therapies resulted in rapid development of diagnostic laboratories focused
on detection of somatic mutations in tumour cells that allow selection of patients to particular treatments. Such
laboratories should function according to strict legislation, including their management, working space, personnel
requirements and certified equipment, and use genetic tests dedicated to in vitro diagnostics (CE/IVD marking). Unfortunately,
several Polish genetic laboratories do not meet these requirements, mainly owing to the lack of financing
mechanisms for therapeutic drug programs in cancer. At the same time, new reliable techniques of molecular and
cytogenetic diagnostics, such as real-time PCR and FISH have been developed. These methods provide simpler and
cheaper means of detecting several genetic abnormalities, such as exon 18–21 mutations of EGFR gene, defining
group of non-small cell lung cancer patients who benefit from EGFR tyrosine kinase inhibitors mutations in codons
12, 13 and 61 of KRAS gene, associated with lower effectiveness of anti-EGFR antibodies in colorectal cancer, or
HER2 gene amplification, predictive of the efficacy of anti-HER2 therapies in breast cancer.
on detection of somatic mutations in tumour cells that allow selection of patients to particular treatments. Such
laboratories should function according to strict legislation, including their management, working space, personnel
requirements and certified equipment, and use genetic tests dedicated to in vitro diagnostics (CE/IVD marking). Unfortunately,
several Polish genetic laboratories do not meet these requirements, mainly owing to the lack of financing
mechanisms for therapeutic drug programs in cancer. At the same time, new reliable techniques of molecular and
cytogenetic diagnostics, such as real-time PCR and FISH have been developed. These methods provide simpler and
cheaper means of detecting several genetic abnormalities, such as exon 18–21 mutations of EGFR gene, defining
group of non-small cell lung cancer patients who benefit from EGFR tyrosine kinase inhibitors mutations in codons
12, 13 and 61 of KRAS gene, associated with lower effectiveness of anti-EGFR antibodies in colorectal cancer, or
HER2 gene amplification, predictive of the efficacy of anti-HER2 therapies in breast cancer.