Published on
September 6, 2021 by Ditsa Keren

Interpret Genomic Data With Euformatics NGS Analysis Platform

Interpret Genomic Data With Euformatics NGS Analysis Platform

Founded in Finland, Euformatics provides expert computational services that bridge the gap between practicing life scientists and new data analysis and modeling methods, to accelerate the precision medicine revolution. In this interview, CEO Tommi Kaasalainen explains the intricacies of genomic data analysis and interpretation, and the incredible benefits they bring to the medical world. 

Please describe the story behind Euformatics.

We were founded in 2010 by a group of friends – software experts, bioinformaticians and a molecular geneticist – to develop and market bioinformatic software solutions for next-generation sequencing (NGS), which was emerging as a more dominant technology for genomic testing at that time. 

During the past 10 years, we have focused on the clinical use of NGS data. Our tools allow our customers to analyse their patient samples in a clinical environment to screen for and diagnose rare diseases, cancer, or other genetic disorders that a patient might have. 

Euformatics has developed three distinct products that specifically target NGS data analysis from a clinical interpretation and quality control perspective. 

We also have a product for NGS data validation for labs and hospitals that want to introduce new tests to their portfolio. Our validation tool lets our customers know whether their NGS process pipeline is running at its optimal performance and helps them to ensure their pipeline produces the results that they would expect.

I have been with Euformatics for less than a year so I’m still somewhat new to the team, but my background in sales and marketing means I bring an expertise that we have already been making use of, and can be seen in part through the growth of our team since I started. 

More on Euformatics in this short introductory video:

How does your technology enable precision medicine?

Euformatics is creating tools for clinical professionals using NGS data to interpret genomic data from patient samples. If every one of us has 2-3 million variants, only a small number of those variants are relevant for the diagnosis. For example, a patient suffering from autism might have one, two, or three variants out of those 3 million, that are relevant from a clinical point of view. 

Our tools help find that needle in the haystack and classify those variants as pathogenic or likely pathogenic ones. Based on our classification, the hospital or physician can prescribe precision medicine that is specifically based on the information gained from those variants in the patient’s genome, and which are causing the disease. 

This is especially useful when it comes to newborns, infants, or people that cannot speak or may not be able to tell you what is wrong with them. It is really hard to communicate with a newborn baby, but when you run an analysis on their genomic data and get the results in a matter of hours, you can quickly see what is wrong with the baby, and prescribe precision medicine without relying on communication. 

This kind of individual treatment is based not only on symptoms but also on who we are as genetic organisms. We all have the same genes, but we have different variants in those genes which impact how we might experience diseases and how those diseases should be treated. 

What kind of clients does Euformatics typically work with?

Our customers are typically high-profile hospitals that want to operate at the highest possible level of quality. Quality is really where we are the thought leaders even from a global perspective. 

Our quality control software is used as the tool for running external quality assessments (EQA) of clinical laboratories that do NGS testing. 

Our partners, EMQN and GenQA, are public organizations based in the UK that run annual EQA schemes for any lab that might be looking to get accreditation or certify that their laboratory is producing results of a sufficient quality. Conversely, university hospitals or other high quality laboratories use our software to ensure that their NGS pipelines are producing high quality data. 

The software automatically calculates quality metrics during each step of the NGS process and allows the lab team to identify where they might have quality gaps, and whether those gaps are significant enough to mean that they need to sequence the sample again. 

If you don’t have enough coverage of a certain area of importance in the genome, you might end up with data which is not trustworthy when it comes to analysing the data and generating a clinical report. It’s really important to base your diagnosis on high-quality data, as this can be critical for a cancer or other rare disease patient. 

Our software ensures that the data on which the diagnostics are done is of high quality. 

Our quality products are all about comparing different aspects of the lab performance. It’s about comparing the past performance of the lab or hospital with the current one. All the samples that run through the system and all the quantitative metrics generated can be plotted against others for quality comparison of genetic testing instruments, chemistries, or bioinformatics.

What can you tell us about your COVID-19 variant surveillance software?

That’s a new and exciting thing for us. We have been developing products for human variant classification and interpretation for the last eleven years. Since the software has been developed in a way that allows us to easily change the reference genome behind the product, we could swap the human genome with the virus genome. 

As a result, we were able to deliver a solution to SYNLAB that classifies the existing COVID-19 variants and identifies new variants at the gene level. This is hugely important in ensuring pandemic preparedness because if a new variant is more resistant to vaccines, vaccine manufacturers need to react quickly. 

What kind of research is Euformatics currently involved in?

We are involved in a multi-national research program called GEMMA, a part of the EU Horizon 2020 funding programme. Together with the leading medical research organizations in the world such as MassGeneral Hospital for Children and Johns Hopkins University, the project aims to increase our understanding of the development of autism spectrum disorders in child patients. 

Our role in the project is to help understand how a patient’s genomic profile can affect the development and occurrence of autism spectrum disorders. Once we understand that better, from a medical perspective, we can start designing different treatments, therapies, or cures for autism spectrum disorders as well. 

How do you envision the future of your clinical genomics? 

I think clinical genomics is the main growth driver of NGS, but the field is still in its early days. Less than 1% of people have had their genome sequenced, and they are the only ones who can have their genetics taken into account when prescribed medical treatment. 

I don’t know how long it will take but at some point, genomic profiling will become as commonplace as taking your blood values or other basic laboratory tests. 

Going forward, everything that is prescribed to you over your lifetime will be able to take your genomic profile into account. So, from a precision medicine point of view, the future looks bright.

About Author
Ditsa Keren
Ditsa Keren

Ditsa Keren is a technology blogger and entrepreneur with a strong passion for biology, ecology and the environment. In recent years, Ditsa has been specializing in technical and scientific writing, covering topics like biotechnology, algae cultivation, nutrition, and women's health.

Ditsa Keren is a technology blogger and entrepreneur with a strong passion for biology, ecology and the environment. In recent years, Ditsa has been specializing in technical and scientific writing, covering topics like biotechnology, algae cultivation, nutrition, and women's health.