festival of genomics 9:35

Our first talk of the day is over on Stage 1, where Front Line Genomics’ Carl Smith is chatting with the Executive Chair of Genomics England, Sir John Chisholm. It’s early in the day, but the atmosphere is already high.

We start by learning about how GEL came to be, when the government asked what benefits patients were seeing as a result of the human genome project in the early 00’s; as Sir John puts it, they weren’t. To resolve that problem, GEL was created to oversee the mobilisation of healthcare alongside the growth of genomics.

Carl moves the conversation along by asking whether or not our habit of naming projects by the goal number of genomes (such as GEL’s 100,000 Genomes Project) runs the risk of locking us into a final target instead of focusing on the path to get there. Sir John acknowledges that this can be an issue, particularly for people involved in the project who work outside of the genomics space, but reassures us that GEL works to avoid the problem. In his opinion, the 100,000 Genomes Project isn’t the end of the road; instead, it is more of a pilot project for bringing genomics into healthcare in the UK. As he says, “There is no purpose in us hitting the target and missing the point.”

festival of genomics

‘Morning Coffee with Sir John Chisholm.’ Sir John Chisholm and Dr. Carl Smith. (Photo: Frances Addison)

The conversation also touches on the reachability of targets. At the end of last year, GEL published their first 20,000 genomes after five years of working on the project and there is still a long way to go. Sir John explains that a lot of the hard work for this type of undertaking is building solid foundations. In GEL’s case, this means building the electronic infrastructure they need to link genomic data to noisy clinical data in a way that is accessible and accurate. Laying the groundwork can be the most expensive, time-consuming part of a project but from there, you have the start you need to push forwards.

Sir John is also keen to emphasise the need to involve participants in the project and how the general public can be incentivised to take part in genomic projects. Without them, we’ll never get the data we need. Projects also need to consider how to feed benefits back to participants once the data has been gathered and analysed; you can’t approach large genomic projects without factoring in the needs of the participants or patients.

As the conversation starts to draw to a close, Sir John highlights how important partners have been for GEL and how they have used pre-competitive collaborations to benefit both GEL and the partners themselves. To demonstrate, he likens genomics to the motor car industry, which has become what it has as a result of automation; without it, cars would be far more expensive and much less reliable. He believes that healthcare and genomics could be the same. There is a need to automate and to digitise to ensure that we’re making the industry as accessible as possible for patients and as practical as possible for clinicians.

He concludes by saying, “In the future, healthcare will not be fixing your motor car when it breaks down; it will be making sure that the motor care never goes wrong.”



Next up is Krishna Prasad, who gives us a run-down of how the MHRA is supporting bringing genomic innovations to the market safely. It’s a very complicated process – as he says, clinical practice regulation is a very different beast than clinical research regulation – but the Innovation Office is working through it. The talk also touches on the new regulations on IVD marketing passed in May 2017, and how they might be incorporated into our current healthcare system. 



Cheryl Berlin continues over at Stage 4, giving us her thoughts on the much-contested debate regarding mainstreaming genomics. As a Principal Genetic Counsellor at The NW Thames Regional Genetics Service, she was the perfect person to be discussing the struggles and strife’s, particularly when dealing with cancer. She explored the idea that genetic testing is changing, and that clinical genetics are no longer the gatekeepers of genomic data. Thus, it is the responsibility of the industry to upskill, through offering education to clinical geneticists so that they know when which job is for them, and which job is for a genetic counsellor.

She added that genetic testing should be optional, “teaching this is difficult, but the approach is key.” This can be carried out by adopting a patient centred approach, formed on the basis that the patient is an expert in their world. Although there is a long journey ahead, it is promising that such an approach is being formulated. “Mainstreaming is here to say, for the most part, we have had positive feedback, but we must discuss how colleagues are learning from one another,” she noted. “It is important that we acknowledge the capacity of our mainstreamers – what is their role and our role?”



Over in Stage 3, we’ve got an eight-person panel being chaired by James Peach that asks the question of how entrepreneurs can get going in the UK genomics industry. The group spend the majority of the talk giving their best pieces of advice for people looking to start-up or grow their companies; we’ve put together a few of the highlights below:

  • “This is a space where everything is possible, and we still know very little” – Pierre Socha
  • “Make sure that you have good core technology and that you believe in your technology. Surround yourself with the right people and the right investors” – Nick Lench
  • “You need to have the ambition to go for it and lead across the world, but you also need to recognise how stressful it is” – Robert Tansley
  • “As you grow, the company culture will change. As a founder, you have to be able to let an idea go if the market is pushing you in a different direction” – Nick Lench
  • “Being good is never going to be good enough, you have to be outstanding” – Robert Tansley
  • “You need to be answering the right questions with your technology, and for that, you need to have connections in the industry giving you feedback” – Jo Mason
  • “Think of yourselves as a big company that is temporarily small” – Zoe McDougall

The number of questions being thrown at the panel is a testament to how active this area of the field is and how many people are looking to grow genomics even further. 


Mike Stubbington got the excitement brewing on Stage 2, as he let us in on the potential of The Human Cell Atlas. Working as a Principal Staff Scientist at the Wellcome Trust Sanger Institute, he really is at the forefront of all the work associated with the cell atlas. He explained that the purpose of creating this is to be able to understand a catalogue of cell types, as well as their arrangement, which of course will become a great resource within the field of biology. The benefits of which include pushing forward technology, which is already expanding at a rapid rate, as well as a huge translational aspect, that’s very important for drug discovery.

The project is based on the following principles:

  • Transparency and open data
  • Quality
  • Flexibility
  • Com minty
  • Diversity, inclusion and equity
  • Privacy and ethics

He revealed that the first draft will be released as soon as possible, and will include between 20-100 million cells. It will include all major tissues, healthy donors, breadth scRNA-Seq, some depth in selected organs, some geographic, ethnic diversity, and spatial validation. In addition, the comprehensive atlas, will eventually include all tissues, organs and systems, healthy donors, mini cohorts of disease, breadth and depth in sc genomics, breadth and depth spatial, geographic, and ethnic diversity.



GlaxoSmithKline has continued to harness human genetics in making medicines, and has recently embarked upon a new basis for fruitful drug discovery.  Paul-Peter Tak, SVP, R&D Pipeline, Global Lead and Chief Immunoncology Office at GlaxoSmithKline explained that one way they have done this is through a new unit/business part which focuses on targeting sciences, with a strong focus on genetics and genomics. New science and technologies are enabling them to generate and interrogate high quality, relevant human data, at an unprecedented speed and scale. It is fair to say that their collective contributions to the scientific common have had a dramatic impact on the pace of discovery, through the inclusion of Government, private institutions, industry and academics. 

Alongside this, GlaxoSmithKline are very supportive of open innovation and data sharing which has led to a major shift in perspective. Paul mentioned that for them the real competition sits within developing molecular intervention, rather than target identification and validation.



Coming back from lunch, people are heading over to Stage 2 to listen to Graham Taylor ask whether or not short read sequencing has had its day. To establish his point, he compares the decreasing prices of short read sequencing to that of budget flights, where the ticket itself costs very little but you get bitten by additional fees. He also reminds us that using short read sequencing, whole genome sequencing has never quite meant ‘whole’ – telomeres, centromeres, large heterochromatic regions, and the short arms of acrocentric chromosomes have never been fully sequenced with short reads.

Instead, Graham presents us with evidence that long read sequencing could be the far better option moving forwards, citing constant read quality over long sequences and significantly more accurate mapping. He then walks us through the main long read technologies currently available (while carefully avoiding naming his personal favourite) and concludes with:

“Let’s not sequence the entire genome just because we can; let’s sequence the areas we’re interested in and keep the analysis simple.”



Over at the Live Lounge, the panel discussion led by CEO of Unique, Beverly Searle focused solely on patient experiences to maximise the benefit of clinical genomics. From the offset, the panel stressed the importance related to patient-reported outcomes, and how genetic test results are delivered, which of course has to be done with an incredible amount of care.

Speaking on behalf of Unique, Information Officer, Arti Patel revealed that the non-profit organisation has had a paper accepted for clinical genetics, about UK families with diagnosis in genetic counselling. This has come up with 28 recommendations that recognise patient journey needs. Only 12 are currently within the NHS England Service specification for genetics, it is important to note that these recommendations are offered in collaboration than opposed to a criticism. In this way, the results can be used as a baseline and go back to families who’ve been diagnosed in the revolution of genomics and genetics in the UK.

Talking more of the experience associated with diagnosis, Mariana Campos, Manager, Membership and Public Engagement, Genetic Alliance UK, explained that more often than not receiving a diagnosis doesn’t always mean negativity or change. It was refreshing to hear peoples thoughts on what results they actually expect to receive from a genetic test? Perhaps this is something that we don’t ask ourselves often enough. 



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