Genetics is currently one of the most dynamically developing medical fields. DNA tests are more and more often used as a preventive tool in case of cancers and other diseases. They are also used to diagnose various nonspecific abnormalities and to plan personalized therapy. Next Generation Sequencing (NGS) is the most advanced technique used in genetic diagnostics. INVICTA Genetic Laboratory has been one of the first laboratories in Poland to use this technology. High standard of our genetic tests has been recently confirmed by an international quality review.
Two organizations: EMQN (the European Molecular Genetic Quality Network) and UK NEQAS (United Kingdom National External Quality Assessment Service) undertook an assessment of the quality of genetic tests performed with the next generation sequencing technique. The first international external quality assessment was organized in 2014 and 189 laboratories from 31 countries worldwide were invited.
Ultimately 150 centers decided to participate in the full scope assessment consisting of two stages. Each center received a single DNA sample for an analysis with a request to perform a test according to a standard NGS procedure used in a given laboratory. The organizers did not specify any additional requirements regarding the scope of diagnostic tests, methodology or types of tests. However, they recommended the use a DNA test panel with the narrowest scope (with regard to a number of tested genes) or analysis a single largest gene.
In total 128 laboratories sent their results back. We had to describe in detail the technical aspects of the performed tests, information technology solutions used, methods of data analysis, and to submit our results for verification – sums up dr Sebastian Pukszta of INVICTA Genetic Laboratory. Information about internal quality control methods used to verify the results, such as bidirectional sequencing or findings’ confirmation with another method were also an important part of the assessment.
INVICTA Genetic Laboratory decided to perform sequencing of the whole BRCA1 and BRCA2 genes for the purpose of this analysis. Our laboratory received the highest possible score for correctness of the procedure as well as for correct results. Despite the fact that next generation sequencing is a relatively new technology, it has been quickly gaining experts and scientists approval. Currently it is considered to be a reference technique for all other ones used in genetic diagnostics. The report we have received is a confirmation of the high quality of tests performed at INVICTA. It is also an indication that Polish specialists can successfully implement new tools and are able to effectively use their capabilities– concludes dr Pukszta.
INVICTA Genetic Laboratory has been offering a wide range of genetic tests for over 10 years. It offers numerous diagnostic panels targeted to detect predispositions for diseases or to diagnose reasons for various abnormalities, as well as targeted tests that are tailored to specific patients’ needs. The Laboratory Team conducts research projects and studies continuously working on development of genetic diagnostic tests. Such projects have resulted in numerous publications in Polish and international peer reviewed journals.