Euformatics, the experts in high standard NGS bioinformatics tool development and internal quality control, announces a strategic partnership with the largest External Quality Assessment (EQA) scheme providers in Europe – EMQN and UK NEQAS for Molecular Genetics. Through this partnership, EMQN and UK NEQAS for Molecular Genetics will automate their data validity check and enhance the NGS EQA result assessment processes to include more quality metric measures for laboratories with help of the omnomicsQ software.

OmnomicsQ software was developed to provide an objective, third party evaluation based on validated NGS quality metrics, and in accordance with the College of American Pathologists’ NGS practice guidelines.

EMQN and UK NEQAS for Molecular Genetics have pioneered the development of EQA for Next Generation Sequencing (NGS). Their scheme aims to (a) assess and improve quality; (b) to enable laboratories to benchmark their NGS service against peer organisations and against best practices; (c) to work towards consistency of reporting clinical results generated by NGS; and (d) to contribute towards best practices.

This year’s EQA was provided as a wet laboratory-based exercise which asked participants to test a genomic DNA sample using their standard NGS process and report the results back to the EQA providers. This NGS EQA scheme will play an important role in enabling labs to benchmark this new technology, assess the accuracy of data and facilitate high quality reporting for patient benefit. Euformatics provides support for the data gathering, data validation, result analysis and for visualisation of QC metrics based on omnomicsQ, a new NGS data quality management tool.

It is a tool that now exists for easy, automatic, and continuous internal quality control (IQC) as well as part of the EQA processes in genetic testing laboratories using NGS. It is sequencer, chemistry, and bioinformatics pipeline agnostic, and is therefore suitable for all sequencing platforms. Regular use allows users to follow data quality over time, by capture kit, by protocol or by instrument, as well as internal or external benchmarking. It provides computer-readable information for workflow integration and human-readable reports and graphics for preventive and corrective actions to support method validation, saving time and reducing costs while achieving excellence in the practice of NGS-based laboratory medicine.

NGS is the fastest growing technology expanding from research laboratories into clinical genetics laboratories worldwide, allowing new NGS-based genetic tests to get to market almost every week. Both large amounts of measurement data, and the stochastic nature of this data creates challenges, not only for the laboratories themselves, but also for regulatory organisations and the medical community at large. In order to accelerate NGS technology towards standardised clinical practices, proficiency tests and EQA are needed. EQA schemes contribute to the improvement of the overall quality of laboratory testing.

“NGS quality control is vital for ensuring successful and accurate NGS test results. This partnership helps to advance our development of best practices and the further diffusion of technological innovation in molecular genetics testing. We will also be able to deliver more comprehensive EQA reports to all participants.” said Director Sandi Deans from UK NEQAS for Molecular Genetics and Director Simon Patton from EMQN. “We are proud to contribute to this effort by EMQN and UK NEQAS for Molecular Genetics, and to help smooth both the result submission and data analysis process”, said Jussi Volanen, CEO of Euformatics.

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