The Festival of Genomics London doors were officially opened, ready for the first day of what promised to be one of the best yet. Eagerly ready to tackle some of the biggest talking points of genomics right now, as predicted the crowds headed straight to Stage 1 to get ready to hear from NHS Chairman, Malcolm Grant.



Malcolm Grant, Chairman, NHS

Malcolm Grant, Chairman, NHS

Grant was met by a packed full audience all of whom were eager to hear what was next for the 100,000 Genome Project. Kicking things off with some impressive facts and figures, it’s fair to say that the future looks very positive. He revealed that at the end of 2017, the project had successfully sequenced 41,582 genomes, showing a 4-5x increase in the diagnostic yield for rare diseases, and 65% actionability in cancer, thus proving a proof of concept that the project is definitely transforming healthcare.

Touching on the legacy of the project, he said mentioned that it would increase the discovery of new pathogenic variants, integrate advanced genomics into mainstream NHS, increase public understanding and support, as well as stimulate and advance the UK life sciences industry. He went on to explain that the plan for the next ten years is for the NHS to wrap around a concept of personalisation, that can be used alongside other -omics to create a model of personalised medicine that moves us from fix and repair to earlier detection and prevention. As a result, patients will be able to adapt their lives more accordingly, towards an improved approach to population health rather than simply fixing something when it goes wrong.

However, it should be noted that this journey will be a very complex one. By 2018/2020 they hope to get genomic medicine embedded within specific pathways, and by 2020 they hope to have genomic medicine embedded as part of routine where appropriate with a clear role established for next generation diagnostics. Future aims of the model system include:

  • Genomic Medicine Service to provide consistent and equatable care
  • Operating to common national standards, specifications and protocols
  • Delivering to a single national testing directory
  • Building a national database that will inform and educate the research industry – this will be a reading rather than a lending library

“We can anticipate with confidence that in five years we will have cheaper sequencing, with higher sensitivity than we presently have,’ explained Grant. “Technical and cultural issues are the biggest to overcome, but the main pull will come from patients who can see new data and reporting in the model that will benefit treatment.”



Over in Stage 4, we were treated to a series of presentations regarding genomic data and whether or not using artificial intelligence will really solve all our analysis problems. According to Paul Agapow, genomic data is a four headed beast (Mathew Woodwark disagrees, adding a fifth head (culture)) and the people that have to face it are not generally the people producing the data. If you can look beyond a little friendly competition between Imperial (Agapow) and UCL (Sophia Olhede), this talk is the place to go to understand the challenges and possible solutions of genomic data handling.


Anna Middleton, David Smith, Miika Ahdesmaki and Eugene McDaid


Staying on Stage 4, FLG’s very own Carl Smith lead us through a panel discussion about the biggest news stories of the year and how recent developments might help to push the industry further. The conversation ranges from the ever-increasing scale of genomic projects (“Genomics will become population-wide when it becomes standard of care”), to how we can improve genomic understanding within the general population (in the very pointed opinion of David Smith, “How can we be so smart and so stupid at the same time?”), to why the UK gender pay gap in genomics is a whopping 29%, while the number of female geneticists is increasing all the time. With a light-hearted, friendly atmosphere, this might be one of the most informative talks today that has the whole audience laughing.



We were now taken to Stage 3 to hear about the state and international landscape of personalised medicine. With a variety of panellists from different parts of the industry, we were given the opportunity to listen in on how we are building a cohort of precision medicine for the human population. First up was Nicola Mulder, Head Computational Biology Division, University of Cape Town, who spoke about the challenges experienced when dealing with the African population, which is increasingly underrepresented. With high diversity, this population is susceptibility to different diseases. As a result, a lot of reference data and new knowledge is needed, and quickly. This is where the h3Africa initiative comes in, funded by the NIH and Wellcome Trust, its main goal is to ultimately improve the health of African populations.

Such a project will allow scientists to analyse, store, manage and interpret data, and actively translate it to the bedside. As we begin to address the ethical and consent challenges around precision medicine, we are slowly getting closer to understanding the diversity of diseases being studied. The project will be continuing to build a human infrastructure to analyse data, with added help from GSK. You’ll be able to read more about this in our upcoming ACMG issue.

Next up was Damien Lacroix, Professor of Biomedical Engineering, University of Sheffield/Insigneo Institute for in silico Medicine. He spoke about the work he is doing to better integrate a mechanic models with genomics data. Although there are new technologies being used in surgical theatres, there are a lot of problems still being felt that, if resolved could eventually help clinicians guide treatment.

He believes the solution lies in developing predictive models that can help the decision clinical process, which would ultimately lead to more accurate treatment. Clinicians would be able to be a lot more confident in the way they diagnose disease, treat and monitor patients, thus providing a much more sustainable healthcare system.

Taking us to another part of the world was Sean Ennis, Co-Founder and Chief Scientific Officer of Genomics Medicine Ireland & Director, University College London. If you attended the Festival I trust you read all about the work Ireland are doing in the London issue of the magazine. He explained how “Ireland is a rich resource for genomic research.” Working with a three-pronged strategy the country hopes to make a real impact, it includes:  

  • Pharmaceutical collars for new therapeutics
  • Identify molecular diagnostic targets
  • Preventative medicine

Lastly, Eran Elhaik, Lecturer at University of Sheffield delved into the drug development crisis. He stressed that despite there being a growing investment in the number of approved drugs, increasing prices of those drugs are making them inaccessible. Concerning, right?

However, it was more than clear that although there are a lot of challenges to overcome, when all aspects of work are combined we are evidently moving in the right direction to achieving our shared goal of mainstreaming genomics.

festival of genomics



Going straight from the panel discussing the best stories of the year, Anna Middleton went back on stage, talking about how to engage the general public genomics research and application.

Giving the audience exclusive access to insights from the Your DNA Your Say project, we learnt about the public’s views on genomics and data sharing.

Just under 10,000 surveys were done by people from the U.S., Canada, Australia and the UK, where as much as 82% of the public was unsure what a genome is, 50% had not even heard of the term, while as little as 18% had a good understanding. 

Being asked about their familiarity with genetics, 46% had no familiarity, while 54% had familiarity through direct-to-consumer testing, family history or the media. 

But this isn’t necessarily a problem, Middleton said. The fact that people are familiar with genetics through popular media like CSI or other science-fiction could actually be a good thing. “We need to think of ways of building on that,” she continues, “as a conversation starter.”

On the topic of donating data, the majority undertaking the survey were not sure on sharing, especially with the pharma industry. Only 28% said they would share their data with pharmaceutical companies, expressing concerns about pharma making profits from free donations. However, 51% would be fine with sharing their data anonymously for use by medical doctors. 

Public attitudes were very different from patient attitudes, where those familiar with genomics were more likely to donate. 

When asked about perceived harms in relation to DNA information being linked to name, address or phone number, some of the answers were as expected, while others were surprising. Ranked as the top fear, was for “my DNA being copied and planted at a scene of a crime, while number two was the fear of insurance discrimination, and the last one was being targeted for unwanted marketing. 

To summarise, Middleton said that it’s important that the public knows the difference between DNA and other medical information, as well as the purpose and value of DNA donation and sharing, and of course, the protections that are in place to protect against exploitation, so that it’s very clear that people’s data are being looked after. And instead of trying to dodge fears people have, articulate them.


Don’t miss out: You can still register (for free!) for the Festival of Genomics London, Day 2.




Over on Stage 1, we were treated to a talk by Catalina Lopez-Correa, CSO from Genome BC, who let us in on how the organisation are building a coordinated ecosystem to effectively implement genomics in the healthcare system. Some of you might be familiar with Catalina as she featured in our last issue. Their main goal is to generate social and economic benefits through genomic. Right now, they are working to produce high clinical impacts within the sectors of infectious diseases, rare disease, cancer and pharmacogenomics. In order to do so, they’ll be working independently and investing in these areas.

Their recently launched personalised oncology genomic program, looks at the specific mutations that cause cancer. In addition, they have begun to cross cut areas to accelerate implementation, with the end goal supporting research targeted towards the needs of sectors ‘users’ and encourage collaboration.

Taking the stage to discuss their ‘Gene Skool’ programme was Sally Greenwood, Vice President. In a bid to empower the youth, and the next generation, the programme hopes to help with the uptake of genomics and demystify some of the fears associated with it.  This takes the form of providing online classroom activities, in-class workshops, campus field trips (which bridge the gaps between the youth and institutions), and a summer science programme for teens. On reflection, it’s exciting to see an organisation trying to broaden the reach of genomics, and ensure it gets into the hands of as many people as possible.



One of the big questions asked within the industry was asked: “is clinical genomics financially sustainable?”. 

Gurdeep Sagoo, Lecturer in Health Economics at the University of Leeds introduced us to the hard facts straight away. NHS’ hardcore figures show us a budget of 122 billion pounds a year. The majority of these 122 billion pounds are used on day-to-day activity, where most of it is brought in by taxation. To put this in perspective, he broke it up, explaining that that’s 2,000 pounds per person in the UK. Completing sequencing on a patient cost the NHS around 1,000 pounds at the moment, which means that half of that patient’s budget for a year, is already spent, if we implement this into the clinic.  

So, moving forward, a financially sustainable system would have to be something that is cost-saving, and this raises challenges, but also opportunities, he continues. 

«We need to talk about cost effectiveness, how we decide to implement new technologies, new drugs, new treatments»!

Another challenge that was mentioned was the tsunami of data: «If we’re carrying on as we are now – capturing the data, we can’t carry on much longer, in the long run, we need to overwrite that data,» Sagoo said. 

So what we really need, is finding a solution that would help us connect the data do diagnostics. The more we’re able to connect the data, the more we’ll be able to perform cost-effective diagnosis.



So that’s it from day one, and I think it’s fair to say it’s been both an inspiring and innovative one. We can’t wait for what tomorrow has in store!



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