Introduction
Euformatics has signed an agreement with BC Platforms to deliver one of Europe’s largest genomic diagnostics platforms to HUS – The Hospital District of Helsinki and Uusimaa – which is a Joint Authority formed by 24 municipalities. Functioning as part of HUS, Helsinki University Hospital is nationally responsible for treating severe and rare illnesses that call for special expertise and technology. The choice of the Euformatics tools for genomic analysis and diagnostic reporting confirms their high standard and suitability as Finland’s precision medicine pioneer and an integral player in Finland’s National Genome Strategy.
Euformatics’ role
Euformatics will deliver its genomics data quality management and its variant annotation and interpretation support systems for precision medicine together with other customisable BC Platforms solutions. The complete set-up will allow HUS to grow its offering and knowledge in genomics diagnostics and to develop fast workflows for both gene panel and whole exome and genome analysis and reporting. Diagnostic laboratories in Australia, Europe, the Middle East, South-East Asia, and the US are already using the Euformatics platforms.
National Genome Strategy
Finland’s National Genome Strategy relies on a close collaboration between HUS and the national biobank network, FIMM (the Institute for Molecular Medicine Finland), and THL (the National Institute for Health and Welfare). The strategy sets key measures for ensuring that, by 2020, genomic data will be effectively used in healthcare and in the promotion of health and well-being. Decisions regarding the prevention and treatment of diseases will be increasingly based on an individual’s genetic make-up. This major change in medicine requires careful preparation and collaboration between key stakeholders.
The Euformatics-BC Platforms story
The agreement between Euformatics and BC Platforms marks the four-year anniversary of the partnership, when their integrated solution was first introduced at the ASHG 2014 Annual Meeting (American Society of Human Genetics) in San Diego, CA. ”We knew the potential cost savings for healthcare systems would be huge due to the integration of fast and comprehensive data collection, sample and data quality management, genomic data analysis, interpretation and visualization platform.” says CTO, Jussi Volanen. To date, the partners boast customer references across the globe including Proteus Genomics and Dartmouth-Hitchcock Hospital in the United States, Codigo46 in Mexico, and Monash University in Australia.
About Euformatics
Euformatics is an SME focusing on the quality management and analysis of genomic and transcriptomic next generation sequence data. Euformatics has a strong RnD activity and develops both cloud-based and local enterprise solutions for genomic diagnostics (omnomicsQ, omnomicsV, omnomicsNGS) combining a database platform with computational analysis functionality. The omnomicsNGS platform offers a comprehensive configurable genome variant anotation, interpretation support, and reporting environment for the needs of clinical research and molecular pathology and genetics diagnostic laboratories. Euformatics is a pioneer in NGS data quality harmonisation and standardisation. The company has been partnered with EQA providers EMQN and UK NEQAS for Molecular Genetics in their external quality assessment program since 2015. Euformatics provides support for the data gathering, data validation, results analysis and visualization of QC metrics based on omnomicsQ. Euformatics has national and regional health alliance and diagnostic laboratory customers in Australia, Europe, the Middle East, South-East Asia, and the US.
About Helsinki University Hospital
HUS, the Hospital District of Helsinki and Uusimaa and University Hospital Helsinki, is a Joint Authority formed by 24 municipalities. The aim is to offer patients in all member municipalities a timely and equal access to specialized medical care. Helsinki University Hospital (HUS) and the University of Helsinki form together the Academic Medical Center Helsinki (AMCH). This cooperation brings together top research , teaching, and medical care every day. Most of HUS’s over 2000 doctors and a growing amount of other health and social care professionals are active in clinical research. HUS Laboratories is their sub-unit producing about 25 million laboratory results annually. HUS hospitals employ over 22,000 professionals making it the biggest Healthcare service provider in whole Nordics.
