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United Data in the United Kingdom: Congenica Diagnoses a Bright Future for UK Life Science Technologies

Tom Weaver

Using data analytics and applying their software to next generation sequencing data and clinical trial data, Congenica are striving to revolutionise medical diagnosis by identifying genetic variations that cause disease. With a successful raise of £8M from both new and existing investors, and their technology already in use in the NHS, Biotech and Money recently spoke to CEO Dr Tom Weaver to find out more about their rise. Here are 10 things we learned from Tom. 

  1. It’s all about genetics, disease and accurate diagnosis

If you don’t have a diagnosis for a patient with a genetic disease, it’s difficult to put the patient on the most appropriate treatment plan or make a prognosis of what the likely outcome is for the patient:

“There are over 7,000 genetic diseases that affect people and the real challenge is that the majority of those patients are not diagnosed. What we do at Congenica is develop software tools and data analysis tools which allow doctors and researchers to identify and diagnose patients who may have a genetic disease. So Congenica is all about data analytics and applying our software to interpret next generation sequencing data and structured clinical data to make a definitive diagnosis for these patients.” 

  1. There are 3 key components 

“The first is the ability to identify DNA variants in large data sets of genetic information. This is a key component since by first identifying all genetic changes we can then identify the specific DNA mutations in a patient which could be causing the disease.

The second is the ability to aggregate that genetic information together with structured clinical data. These are very specialized descriptions made by the doctor that help define and categorize what is wrong with a patient.

The third is the ability to mine that aggregated information. These include software and a user interface used by experts to review the data for one patient, in the context of supporting evidences from many other patients, to aid doctors in making a diagnosis.” 

  1. It’s who you know, and what you know

The company was able to get their technology into the highly regulated NHS within just 2 years. How was this achieved? Well it helps to collaborate early:

“Our company span out of The Wellcome Trust Sanger Institute here in Cambridge. However, the collaboration with the NHS has impacted the way our product has been developed.  Some of the founders of Congenica have worked for many years in the NHS in clinical genetics. We have several staff in the company who have come out of the NHS and understand the clinical workflows and clinical requirements, and frankly the gaps that are currently in the NHS.

We have built our software platform in such a way that the use case was effective for clinical geneticists in a diagnostic environment.  It improves the ability to make a diagnosis and saves time, improvements that mean better healthcare delivery at lower costs. We can achieve a diagnosis in cases where previously this was impossible. And we can do it extremely fast, which diagnostic labs are crying out for.”

Have any other collaborations helped expedite the technology’s use?

“The other thing that has helped us is the strong relationship and partnership we have with Genomics England. The UK 100,000 Genomes Project, which is working closely with the NHS, is introducing disruptive new next-generation sequencing technology and diagnosing patients with either rare inherited disease or cancer, into the system. We won a competition and were selected as interpretation partner for this project, due to having the best technology in the market.”

  1. It’s also really important what you don’t know

With this new wave of big data analysis, particularly when it comes to the healthcare space and personal data, there are always questions around data security.

“It’s a really important issue, arguably one of the most important issues going forward. The whole field of genomics has evolved in the past 10 or 20 years around data generation. So now the real challenge is in data interpretation. What’s really important are the rules of engagement and access to the data.  What we can do with the data, how we can continue to innovate to make our tools more accurate, automated, more predictive and with a higher impact on health.

We have come up with a useful data access and use model which works for healthcare providers, especially diagnostic labs, that I think can be a model going forward. This was really developed by one of our founders, Richard Durbin, who was also involved in defining the rules of engagement, during the Genome Project, for data access, together with Matt Hurles, another Congenica founder.”

So how do Congenica deal with data protection and privacy?

“With clinical data, now the challenge is exactly that. Personalised information and ability and consent to use that information. What we’re doing at Congenica is separating individual data from derived and summary data. What I mean by that is, individual data is data that is linked to a person, for example their genetic sequence, or the information that’s coming from their doctor specific to them. What we do is capture some of that information, but capture it in what is called a ‘pseudo-anonymised’ way. 

We receive information that doesn’t have any personally identifiable information, like an NHS number, or a person’s name or location. We simply get a description of their condition and genetic information. So we can’t identify that person, but we capture the relevant clinical and genetic information related to an individual.

We also believe that personally identifiable information should never be released. We would never sell individual genetic or clinical data or identifiable information, never release that information to any third parties, unless of course we had the agreement of the organisation or patient who has provided that information. We’ve introduced all the highest level of data security in the cloud environment in which we work.

We’re a data processor of that information. We’re not a controller or owner of that information. However it is absolutely essential we have access to that individual information so we can run our algorithms and tools on it, and also do that in the context of other patients, in a database that’s much larger - a reference database composed of data from other patients.”

  1. UK investors are driving success

In a geopolitically uncertain time, UK science and technology and innovation, supported by UK investors are leading the way. We asked Tom about their recent £8M series B round:

“It’s a fantastic result. It’s a threefold increase on the last round we did in 2014. It’s a real validation of the progress we’ve made as a company, shows belief of existing investors and attraction of new investors who also believe in what Congenica is all about. Our existing investors include Cambridge Innovation Capital, which is a fantastic evergreen fund, out of the University of Cambridge. Their ambition is to support innovative companies and ideas out of the Cambridge Cluster. Our technology isn’t the University of Cambridge (it’s the Wellcome Trust and Department of Health) but we’re very much part of the Cambridge Cluster, and have benefited from the support of the local VC’s.

We also have Amadeus Capital Partners, a UK-based VC fund. They’re really interested in Congenica from the tech angle. Congenica falls interestingly between life science and tech - we’re a bridge between these 2 large markets. That really is unique to us - we see revolutions happening in medicine from both markets that we can take advantage of, and our investors agree with that.”

And the new investors in this round?

“We’ve brought in Parkwalk, also a UK based VC company, who are very experienced in taking technologies out of academic environments such as Cambridge, Oxford or London, and helping in the building of successful companies that have global ambitions.”

  1. But the market is global

So what is this money for, and what are these global ambitions?

“It allows us to commercialise Sapientia, and take it beyond the NHS, beyond the UK, and into other geographical regions such as the US and China. The number one activity of this round is to really commercialise what we’ve got. Although we also have great ideas for innovations around the product, and we’re really excited about that. Working with our network of clinical scientists, who have unique access to patients, we’ll be able to develop some neat, new applications with this funding.”

  1. And global investors, are a part of the future

“There is also a lot of interest from America and China for investment in companies like ours. I could see our next funding round engaging more internationally, especially as we start penetrating these markets.”

  1. UK companies are taking a leadership role in new science and technology

Digital health and precision medicine are some of the most exciting new areas in healthcare. Is the UK one of those leading the way?

“I think the UK arguably has the best technology in this space, certainly in Europe, if not worldwide. Genomics as an example – a lot of the intellectual capital for sequencing the human genome came from Cambridge. That’s something we should be proud of, recognise and invest in, to really take that technology and develop that commercially. We really are at the leading edge of this.

The UK 100,000 Genomes Project - that was the first of its kind, a large-scale national programme bringing genomic technology into the clinic. It’s important to make this point. It really is in the clinic. It is being used today to make a difference in patients’ lives. We’re not talking about it as a research product sitting in some ivory tower in Cambridge or Oxford, it’s actually being used in a really important way in our health services. So I think the UK is absolutely at the cutting edge. 

Of course, we could always use more capital, we could also use more tax incentives, R&D tax credit. It’s also very important to continually fight to access to the best talent in the world. I’m an American but I’ve been in the UK now close to 30 years, and we need to attract talent from all over the world, including the EU, as well as Asia and America, to really take the technology from the UK and make it international. For the benefit and success of UK PLC.”

  1. Data is knowledge, and knowledge is power. 

With software tools and big data analytics, the more the better. Tom identified running algorithms and tools in the context of a reference database of other patients as vital. So what are the milestones Congenica are working towards?

“It will be deal flow with hospitals or B2B relationships with diagnostic labs in other countries. We’ll also then be able to build our knowledge base, the database supporting our platform, substantially. Right now, we have something in the order of 12,000 patients in our database. We see that expanding substantially over the next 12 to 24 months. So those are very important milestones for us as a company.” 

  1. Genomics is for everyone!

So what would success look like for Congenica to Tom in the long run?

“To me, it’s every patient should have their genome analysed to reap the benefits of the information that can be unlocked in their genome, to give them better healthcare.”

We see our software being used as an enabler to make that vision happen and enable genome interpretation to scale up. We see our software as extremely important in analysing people’s genomic data. Initially right now the model is patients, so people who have a suspected genetic disease. But that’s going to change over the next 5 to 10 years, it’s going to be ‘let’s rule out genetic disease’ or ‘let’s look at your entire genetic makeup to help facilitate making the best decisions in terms of the type of drugs we take’.

Also promoting healthy living and linking that up with other data sets that will be collected around patients during their life - wearables and that sort of technology.”



Congenica is a UK company founded on pioneering research from the Wellcome Trust Sanger Institute, NHS clinicians and regional genetic testing laboratories. We’ve translated this research into the gold standard clinical genomic analytics platform, Sapientia®, providing integration of human DNA sequences with deep clinical phenotyping, enabling clinicians to provide actionable interpretation of genetic disease for patients.

You can find out more about Congenica and Sapientia at


Tom Weaver holds a PhD in Experimental Oncology and has a proven track record of creating value inhighly successful start-up companies, applying genome-based technologies and contract services for fundamental research, clinical, and drug discovery purposes. He has also led large infrastructure programs in genomics and animal model genetics, serving as a Director at the Medical Research Council (Oxford, UK). He trained at the University of Cambridge and MRC Lab.


Lea Bidiville
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