HELSINKI, Finland, March 2022. Genetyca ICM SA, a leading laboratory in the field of human genetics in Portugal, has selected the Euformatics omnomics Suite to provide variant interpretation and regular NGS data quality control for panel testing and whole-exome sequencing. Genetyca ICM, which was recently acquired by publicly listed Spanish company Artys Health SA, is investing consistently in laboratory quality development with its laboratory director and COO, Isabel Alonso. Genetyca ICM has a role in establishing best-practice guidelines for molecular genetic diagnoses with the European Molecular Quality Network (EMQN), which previously partnered with Euformatics and sister organization GenQA for NGS EQAs since 2015.
According to Isabel Alonso, the Laboratory Director and Chief Operating Officer at Genetyca ICM, “During the past months, omnomics Suite has made our analysis pipeline more efficient, allowing us to reach one step closer to our vision of making genetic testing easily available. We currently offer the analysis of targeted gene panels as well as exome sequencing, so we were looking for software that was flexible enough to meet our needs of automating the process of data handling from the sequencer raw data to the final report.
“Quality of data is important for us, so we have to ensure that the analysis we run based on the sequenced data is correct. The automated quality control offered by omnomicsQ was just what we were looking for, allowing us to systematically check the quality of every sample before we start the interpretation.”
“Genetyca ICM is among the most advanced genetics labs in Portugal that are using NGS for clinical practice. We are pleased that they have chosen Euformatics to provide them with the essential software tools needed to ensure that their NGS testing capabilities can continue to expand efficiently and with the trust that the data generated is of top quality. We are looking forward to working with Genetyca ICM to develop their capabilities and ensure that NGS testing becomes an even more common analysis method for medical professionals in Portugal” adds Tommi Kaasalainen, CEO of Euformatics.
Euformatics helps to accelerate the transition to precision medicine by providing versatile CE-IVD certified variant interpretation and quality control tools. The partnership with innovative genetic laboratories, such as Genetyca ICM, provides us with excellent opportunities to contribute to a future in which patients have access to personalised targeted healthcare strategies thanks to comprehensive genomics data analysis. It is also aligned with Euformatics’ strategy of establishing a broad presence in all key regions globally, either through direct partnerships with key clients or through a distributor network.
Currently on version 2.6, the newest additions to omnomicsNGS are an auto-triage platform for WGS interpretation and a user-configurable checklist for different geneticist’s tasks, among other updates. These are new features intended to increase the versatility of the software.
About Genetyca ICM Portugal:
Genetyca ICM SA is a Genetics laboratory part of Artys Health SA and provides genetic tests aimed at various medical specialties. They are at the technical forefront of predictive and preventive medicine aiming to be one step ahead in the diagnostic capacity required to satisfy customers’ requests.
The laboratory combines more than 20 years of experience in human genetics with a highly qualified team and the most advanced technologies. Their mission is to consolidate themselves as a reference center in Human genetics, providing services in the field of medical genetics with a laboratory component (molecular genetic tests based on next-generation sequencing) and a clinical component (medical genetics and genetic counseling).
Their vision is to make genetics an accessible tool for the whole population and all medical specialties, to be used in the diagnoses, treatment and its application in the prevention of genetic diseases through early diagnosis. Quality is paramount for Genetyca ICM. In addition to internal quality controls for the different stages of the genetic testing process, Genetyca ICM participates, on an annual basis, in the technical and relevant disease-specific schemes, with the EMQN, for the quality assessment of next-generation sequencing.
More information is available at their website: www.genetyca-icm.com
Euformatics is a Finnish company that provides high-standard software for genomic data interpretation. Since 2010, Euformatics has been helping medical doctors and molecular genetics laboratories provide better precision medicine for cancer, common or rare disease diagnostics. At present, our core solution is the omnomics Suite which includes omnomicsNGS; a CE-IVD clinical analysis and reporting of patient NGS data, omnomicsQ; for NGS data quality management, and omnomicsV; for NGS assay pipeline validation.
For more information, please visit our website www.euformatics.com
Rafael Vicentini Popin