Publish date: 8 December 2022
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INVICTA Genetic Laboratory ranks among the top 10 genetic laboratories in the world and is the highest-rated genetic laboratory in Poland. The quality of genetic testing conducted using Sanger sequencing technique in our laboratory was evaluated by The European Molecular Genetics Quality Network (EMQN), an organization dedicated to comprehensive quality assessment of genetic testing.
Genetic analysis of disease predisposition has become a crucial element of modern preventive healthcare. There is increasing focus on a new branch of knowledge called preventive medicine. How can genetics help us protect our health? Analyzing an individual’s DNA and their specific health situation can help predict and mitigate health risks at an early stage for each patient. With the growing popularity of genetic testing, there is a rising number of laboratories offering such services. Their credibility is assessed through external quality controls. Our Genetic Laboratory has successfully undergone such scrutiny.
The European Molecular Genetics Quality Network (EMQN) evaluated 321 laboratories worldwide, including European laboratories (with 19 laboratories from Poland), as well as laboratories from Brazil, the USA, South Africa, India, and Australia.
In our laboratory, Sanger sequencing is utilized for selected personalized diagnostics using low-copy genetic material. This enables patients to access a reliable, widely used reference technique. Its application requires experience and established skills. The significant interest of laboratories in participating in the evaluation of genetic testing using Sanger sequencing confirms the popularity of this approach – Dominika Drzewiecka, MSc, Genetic Preimplantation Diagnosis Laboratory, INVICTA.
As part of the control conducted by EMQN, participants were given a total of four samples containing a fragment of the CFTR gene to be examined. The assessment of sequencing quality was based on a thorough analysis of the raw data obtained from the laboratory after conducting the diagnostics. Several criteria were taken into account, with the most important being: 1) Quality Read Length (QRL), 2) Quality Read Overlap (QRO), 3) PHRED 20, PHRED 30, PHRED 40. The quality assessment of the data consisted of scores obtained by the laboratory for all samples in each parameter. The data provided by us demonstrated the highest quality. Consequently, INVICTA’s Genetic Preimplantation Diagnosis Laboratory was classified among the top 10% of participating facilities in the program, receiving a D1 category (on a scale where D10 indicates the lowest position and D1 the highest position). For the entire team, this is a reason for pride and confirmation of the highest competencies – Dominika Drzewiecka, MSc, responsible for the controlled studies.
DNA testing is increasingly being used as a preventive measure. It is utilized for diagnosing disorders and conducting personalized therapies. However, the quality of genetic analysis and the reliability of the obtained results are crucial. Therefore, when deciding to undergo genetic testing, it is important to pay attention to how the laboratory conducting the tests is evaluated.
In this context, education, work experience, expertise, and qualifications of the personnel performing the tests certainly matter. Positive results from international external quality controls organized by standard-setting organizations provide the most valuable (because independent) confirmation of quality. The quality of our analysis places our laboratory in the 8th position out of over 320 laboratories worldwide performing the exact same analysis – Dr. Sebastian Pukszta, PhD in Biology, Head of the Genetic Preimplantation Diagnosis Laboratory at INVICTA.
