Behind the Genes

GenOMICC COVID-19 Study

“Most of the genome is the same for everyone, but there are some places where you can have some variation. This variation, in this case between the people who had severe COVID-19 and the general population, highlights certain areas of the genome. Our job is to try to understand this region.” 

In this week’s episode, our CEO Chris Wigley is joined by Erola Pairo-Castineira, Suzi Walker, Athanasios Kousathanas and Dorota Pasko, all members of a collaborative effort between Genomics England and the GenOMICC consortium, led by the University of Edinburgh, to utilise genomics to better understand the human response to COVID-19. 

The group talk about the publication of their findings in Nature, whole genome sequencing and 100K participants and their value as validation cohort. They also talk about CloudRE and their plans for the future.  

Revolutionising research

“It's a real power of some of the translational research that's being done that you can not only answer interesting, fundamental biological questions, but also impact people directly in the process.” 

In this week’s episode, our CEO Chris Wigley is joined by Dr Patrick Short, genomic researcher, bioinformatician and Co-Founder and CEO of Sano Genetics. For his PhD Patrick worked on the Deciphering Developmental Disorders (DDD) project, with his findings and methods being used in Genomics England's 100k analysis, and he has designed and taught courses on machine learning and data science at Cambridge Spark.  

Today Patrick talks about the human aspect of research, precision medicine research and industry access to data. He also discusses the Deciphering Developmental Disorders project and his work with Sano Genetics.  

Machine learning and start-ups

“What can machine learning do? You know, it's like having a million interns. It's not they can do everything that your core business needs to be able to do, but there are some things they can do very well. And if you can have a million of them, then there are things you can achieve that would be almost impossible to achieve with human scale, with normal numbers of people.” 

In this week’s episode, Chris Wigley is joined by Matt Clifford, co-founder and CEO of Entrepreneur First and board member at Code for Girls. Matt holds degrees from Cambridge and MIT, where he was a Kennedy Scholar, and was awarded an MBE for services to business in the 2016 Queen’s Birthday Honours.  

Today, Matt talks about successful start-ups, tech developments within genomics and the value of investors. He also discusses his work with Entrepreneur First and the power of machine learning.  

The value of data

“Rare disease families really understand that data is important. Examining the family's genetics and bringing together groups of people with individual rare diseases to examine their genetics, and try and understand what's going on, has the potential to lead to both diagnosis and potential treatments. So they understand the power of data.” 

In this week’s episode, Chris Wigley is joined by Christine Patch, Clinical Lead for Genetic Counselling at Genomics England and Principal Staff Scientist in Genomic Counselling at the Society and Ethics Research group. An early advocate of genetic science, she became one of only 30 genetic nurses in the UK in 1989, and has subsequently worked as President of the European Society of Human Genetics and sat on the Human Genetics Commission.  

Today, Christine talks about patient confidentiality and the code of duty, her early career in genetics and her role as Caldicott Guardian at Genomics England. She also discusses the intricacies of patient choice and the priorities for rare disease families.  

Disinformation and the evolution of news

“The news media can do a lot better. Frankly, we need to reflect and represent different communities, and produce material that is more relevant to people who don't necessarily come from privileged backgrounds. Because I think that the way to engage people is to tell stories that have relevance to their lives, rather than this paternalistic ‘we speak, you listen’ approach we see now.” 

In this week’s episode, Chris Wigley is joined by Rebecca Skippage, News Editor and Anti-Disinformation Lead at the BBC. Having spent much of her career tackling misinformation, in 2020 she also founded a fellowship at Reuters Institute, established to explore best practice in communicating with global audiences and to encourage people to utilise public service media networks.   

Today, Rebecca discusses why people from less privileged backgrounds are significantly less likely to turn to news media, how the BBC combats fake news and the importance of social listening. She also talks about her eye-opening report ‘The role of public service media in the fight against disinformation’ and touches on the usefulness of WhatsApp and other similar media platforms. 

The human element

“The human element is going to become increasingly important. In the presence of high-level technologies, machine learned algorithms and highly personalised precision medicine - perhaps based on genomics - in the presence, even, of all those items, it will be the contact between care delivery and the care receiver that will remain important.” 

In this week’s episode, Chris Wigley is joined by Professor Pali Hungin, former GP and president of the British Medical Association, emeritus professor at Newcastle University and researcher in gastroenterology and associated clinical and psychological factors. Having received an OBE for services to research in 2000, Pali has spent much of his career attempting to bring about positive change, establishing and leading the Changing Face of Medicine project at the Academy of Medical and Royal Colleges and sitting on the Access Review Committee at Genomics England.  

Today, Pali discusses the need for radical change in medicine, suggests clinicians should be armed with genomics and AI, and champions technological advancements in healthcare. He also discusses his work with the Changing Face of Medicine project and offers some advice for young people hoping to get in to medicine.  

Changing health research for the better

“Today we still have a significant number of people who are suffering ill health in later life, and often suffering it because we're diagnosing conditions led to them. We’re getting to people and treating them when they end up with things like stage three or four cancer or dementias; we only pick them up at the point when they start to be clinically visible. And it's really difficult to start to treat those individuals at that point.” 

In this week’s episode, Chris Wigley is joined by Andy Roddam, renowned epidemiologist and Chief Executive Officer at Our Future Health. Having earned his doctorate degree in Statistics from The University of Oxford and completed a post-doctorate in Infectious Disease Epidemiology, Andy has held several roles across both academia and industry, principally focusing on the application of epidemiological methods to advance the understanding of human disease.  

Today, Chris and Andy discuss health data and how best to collect it, interventional research, personalised treatment and the importance of predictive prevention.  

Putting the patient at the heart of the mission

“If we wrap our missions around the patient and have early connections with them, I believe the data packages we pass on to those developing a product will be much richer, and diagnostic development may be much shorter - 2-3 years rather than 25 years.”

This week, Chris Wigley is joined by Dr Melanie Lee, CEO of medical research charity LifeArc. LifeArc translates promising scientific innovations into well-informed products for the benefit of patients. LifeArc are currently supporting a number of COVID-19 studies, including the GenOMICC Study, in partnership with Genomics England.

Today, Chris and Melanie talk about engaging with different communities to identify the right problems, and discuss why receiving a diagnosis, even if there isn't necessarily a direct link to treatment, can be so important.

The ladder of participation

"How do we climb the ladder, from the participant representation side? How do we demonstrate that we are partners who would be worth working with, from the view of those in power? And whose ladder is it anyway?"

In this week's episode, Chris Wigley is joined by Jillian Hastings Ward, who is Chair of the Genomics England Participant Panel, a founding board member of the CureGRIN Foundation, and a participant representative on the National Genomics Board. Jillian's son, Sam, has the very rare genetic disorder GRIN1, which was diagnosed through the 100,000 Genomes Project.

Today, Chris and Jillian discuss the 8 rungs of the ‘Ladder of Citizen Participation’ - from the group of users being told to what will happen to them, to them having a role in decision-making.

Patient power and the future of healthcare

“In us and on us, we have our microbiome, which is more cells - bacterial, viral, and everything - than the number of human cells. And they're our friends. They’re like a garden, we've got to plant them properly. We need to be starting to look at those much more, and genomics is going to play a key role.” 

In this week’s episode, Chris Wigley is joined by Sally Davies, Master of Trinity College, Cambridge, former Chief Medical Officer and UK Special Envoy on Antimicrobial Resistance. Having spent 20 years working with people with sickle cell disease, she is passionate about reforming healthcare, setting up the National Institute for Health Research and playing a key role in the establishment of Genomics England.  

Today, Chris and Sally discuss generation genome, genetic exceptionalism and the value of patient stories.