Behind the Genes

“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.  

“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 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.  

“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.  

“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.

"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.

“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. 

“Today, where we are in the 21st century, genetics, anthropology and evolutionary biology are no ally to racists. In fact, they should be used as weapons against bigotry.” 

In this week’s episode, Chris Wigley is joined by Adam Rutherford, geneticist, author and broadcaster. Adam has produced several documentaries and books on genetics, is co-host of BBC Radio 4’s Inside Science and is an Honorary Senior Research Associate in the Division of Biosciences at University College London. 

Today, Chris and Adam discuss how to empower individuals to tell their stories, genetic diversity and structures of bias, and a priceless movie prop.   

"At first, it's all a big whirlwind and you can't process the big bombshell that you've been given. Suddenly, it turns out the life you had mapped out is not going to be like that at all. Almost overnight, you become a geneticist, you become a physiotherapist, you become a nurse, you become a dietitian. You are now the expert."

Shelley is mum to Fraser, whose medical journey has been tough because he didn't have typical symptoms for any known conditions. But genetic testing found he had an alteration in one of his genes, leading to his diagnosis of Duchenne Muscular Dystrophy (DMD). As a family they later joined the 100,000 Genomes Project to find out why Fraser's non-textbook symptoms meant he didn't fall neatly into a faster DMD diagnosis.

In this episode, Chris and Shelley talk about the lived experience of families managing a rare disease, climbing Snowdon, and being active in supporting disability rights.

"We have accept that things are going to come along in our field that are going to make us feel uncomfortable, and they're going to stretch us. And we shouldn't be frightened of that."

Using his experience from his days working at the Ministry of Sound, Lord Bethell is keen to mobilise impact in the genetics and genomics world as quickly, and as equitably, as possible.

In this episode, Chris and Lord Bethell talk about the vision of a perfect understanding of the human body and using that to drive genomic medicine, the challenges along the way, and what we can learn from the rapid scaling at incredible pace throughout the COVID-19 pandemic.