The analysis of genetic predispositions for diseases is becoming the key element of the modern preventive healthcare. There is even a new branch of knowledge being mentioned around the world – preventive medicine. Based on the patient’s individual situation and his or her DNA, preventive medicine aims to help in reducing health risks. There is the increasing number of offers of genetic tests on the market. Their reliability is assessed among others in the framework of special external quality assessments. The INVICTA Genetics Laboratory, the leading DNA testing center in Poland, has just passed positively the quality control of genetic testing performed with the Sanger sequencing method.

The international assessment was carried out by the European Molecular Genetics Quality Network, which deals with the comprehensive quality assessment of genetic testing. The program was joined by 287 laboratories from all over the world, among others from the European countries, Brazil, USA, Republic of South Africa, India and Australia. Our facility uses Sanger sequencing in cases of selected, personalized diagnosis and for tests ordered under the contracts with the National Health Fund. This way, our patients have access to reliable, commonly applied technique. Its use requires expertise and broad skills. However, high interest of laboratories in the assessment of genetic tests using this technique confirms the popularity of this solution – says Sebastian Pukszta, PhD in Biology, from INVICTA Genetics Laboratory.

Within the framework of the assessment, its participants were given five samples in total. Four of them contained fragments of MSH2 gene and one contained a fragment of CFTR gene. The sequencing quality assessment was based on the in-depth analysis of the raw data from the test provided by the laboratory to the organizers after performed diagnosis. Several different criteria were considered (the most important were 1) PHRED quality score, 2) Quality Read Length (QRL) 3) Quality Read Overlap (QRO)). The overall score comprised scores received by the laboratory for all samples in individual parameters. The overall score (overall QR%) defined which percentage of the received data had met the requirements for diagnostic purposes.

The data we provided met the criteria in 100%. In the result, the INVICTA Genetics Laboratory was classified in 10% of the best centers participating in the program, and received D1 category (author’s note: on a scale from D10 – the lowest position, to D1 – the highest position). It is a reason for the whole team to be proud and the proof of the highest competences – says Dr Pukszta.

DNA tests are more and more often used as a prophylactic tool in case of cancer and other diseases. They are also used to diagnose various unspecific abnormalities and to schedule personalized therapy. Their value for the specialist in genetics depends on the quality of the analysis and the reliability of the result. When deciding to undergo genetic testing, it is worth taking into account the assessment of the laboratory where these tests will be carried out. In this context, the key criteria to be considered include experience, use of various analytic techniques, knowledge and qualifications of diagnosticians. ISO accreditations and positive results of external quality assessments, including the international ones, are the independent proof of quality which should also be taken into account – stresses the expert from the INVICTA Genetics Laboratory.