Behind the Genes

Jillian Hastings Ward: 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 of The G Word, 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.

Professor Dame Sally Davies: 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 of The G word, 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. 

Dr Adam Rutherford: Genetic diversity and the language of race

“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 of The G Word, 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.   

Shelley Simmonds: The first place you turn to is Dr Google

"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.

Lord Bethell: The importance of embracing disruption

"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.

John James: We need commitment and we need leadership

"Here we have a condition that has been known medically for hundreds of years, people have received Nobel Prizes for their analysis and understanding of its genetic makeup. Given what is known about sickle cell, genomic research into treatments and cures should be amongst the low hanging fruit within the scientific development."

John James, CEO of the Sickle Cell Society and the first Black African-Caribbean Chief Executive in the NHS, believes that it is fundamental to acknowledge that inequalities exist before transformational change can happen across our health services as well as in research. Only then will we start closing the gaps in the differences in healthcare outcomes and treatments for all of the people our NHS serves.

This week, Chris and John tackle the challenges of reaching weary ethnic minority communities, the importance of role models, and the difficulties in translating exciting scientific advancements to healthcare professionals who are already under incredible pressure.

Dr Natalie Banner: How to talk about data without talking about data

"Data is quite a technical topic. It's quite dry. One workshop participant said, 'Oh, you say the word data and I fall asleep.' Engagement needs to be about what matters to people, the benefits to people." 

Dr Natalie Banner is an expert on the power of data, and uses her knowledge and experience to guide decision-makers and ultimately make health data a more accessible subject for all. After all, data saves lives.

In this episode, Chris and Natalie talk about the early, big challenges around genomic data like data privacy and meaningful consent; where the responsibility should lie in engaging people in the genomic conversation; and where we could be five years from now.

Dave McCormick: Embedding the patient voice

“This is about developing a balance between quantitative and qualitative perspective, it isn't just about the data - the data is important, of course it is - but it's also the lived patient experience. Both are key.” 

 

In this week’s episode of The G Word, Chris Wigley is joined by Dave McCormick, who has been a member of the Genomics England Participant Panel since 2017 and became a participant in the 100,000 Genomes Project due to his rare sight condition. Dave is also an Advisor on the MSc in Genomic Sciences at The University of Manchester, and a Patient Representative in North West GLH Clinical Advisory Group. 

 

In this episode, Dave and Chris discuss why is it so important for people studying to become bioinformaticians or clinical scientists to embed the patient voice, getting healthcare professionals and scientists to talk to people in lay language and DIGVIP (Digital Inclusion on Genomics with Visually-Impaired People), a webinar series launched to try to bring research and patients closer together. 

 

Professor Ting Wu: The beauty of the genome

"A person's experience can actually alter our genetic material and have it passed on. So what could some of those alterations be, that children can inherit, and for generations after that?"

Professor Ting Wu is a molecular biologist with a passion for genetics, space and education. Unravelling the mystery of genes could lead us to understanding what children inherit from their parents, why genetic diseases develop, and how we may be able to improve the outcomes for - and potentially reduce the likelihood of - these diseases.

And though it may sound like science fiction, what we learn about genetics could even help us in space travel - Ting tells Chris about her group investigating the effects of extreme environments on the human genome and how we can protect it against radiation damage.

Professor Tim Hubbard: Making the impossible possible

"Humans are fantastically complicated, with 37 trillion cells and we don’t even know how many different cell types there are. But’s there’s a place to build from now. Having AlphaFold is like having a Rosetta Stone to translate; you couldn’t read the language of proteins - sequence defining structure and function - before." 

Tim Hubbard is a Professor of Bioinformatics, Head of the Department of Medical and Molecular Genetics at King's College London, and also a Senior Advisor to Genomics England. And no wonder, with so many achievements under his belt; Tim has had a vital role in the Human Genome Project - where the first human genome was mapped and annotated in Ensembl and Gencode - as well as in co-organising Critical Assessment of Structure Prediction (CASP) competitions for several years.

In this episode, Tim tells Chris about how he first got hooked on bioinformatics before it was formalised as a field, and how the breakthrough with AlphaFold means a better understanding between genomics and healthcare.

Find out more about AlphaFold, the AI system that has made a huge scientific breakthrough and solved a 50-year grand challenge.