Behind the Genes

“It’s extremely exciting from a research point of view because this really does offer that holistic view of the patient. […] The long-read sequencing technology and the activity that we’re doing with this multimodal data is really cutting-edge, it’s moving research forward, because we want to have a better experience for the patient and ensure they’ve got quicker diagnosis. […] There’s a potential that with the multimodal platform that there could be some genomic indicators for early detection of cancer. ” 

In this week’s episode of The G Word #sciencepodcast, our Head of Public Engagement Vivienne Parry is joined by Emma McCargow, Programme Lead for the Cancer 2.0 programme. Emma is responsible for operating the day-to-day delivery of the strategic genomics agenda in Cancer 2.0, which includes maximising patient benefit and enhancing cancer research. Emma was also recently involved in our Innovation Showcase 2021 and was part of the Cancer 2.0 session – Integrating long-read sequencing technology and multimodal data.

Today Emma talks about how genomics gives us new insights into what’s happening with cancer and how this helps guide clinicians in how they decide to treat their patients. She also discusses long-read sequencing, and how this newly-developed technique has benefited studies and programmes and has given insight into various complex cancers.

“What I found about genetic counselling was that whilst you might learn about the science or the condition or inheritance patterns - things that may stay constant - depending on who you're seeing, the families that are coming in to see you or the patients that are coming in to see you will all have a different story.” 

In this week’s episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Michelle Bishop, Education Development Lead for the Genomics Education Programme and council member at the British Society for Genetic Medicine. Having been involved in genetics and genomics education for over 15 years, Michelle has authored over 40 genomics education resources and 15 peer-reviewed papers, developed specialist NHS training curricula and competency frameworks and provided educational and clinical expertise to national projects as part of the NHS’s transformational adoption of genomic medicine. 

Today Michelle talks about ensuring healthcare professionals have access to the right type of education and training, engaging with people beyond the scientific community and genetic counselling. She also discusses her background and her learner centred approach.

“We're just at the cusp of the genetic therapeutics revolution, which I think will continue to sweep medicine for the next 15 to 20 years and will completely fundamentally change the way we think about treating all kinds of diseases.” 

In this week’s episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Prof Sir John Bell, Regius Professor of Medicine at Oxford University. Prof Bell has been extensively involved in the development of research programmes in genomics and genetics as well in the development of a clinical research programme in the UK. He is the founder of the Wellcome Trust Centre for Human Genetics and is the founding director of three biotechnology start-up companies. As well as receiving a number of awards and honours, he has a number of charity positions and was selected to the Vaccine Taskforce in 2020. Prof Bell also assisted in the development of the 100,000 Genome Project at Genomics England.

Today John talks about the new operating model - Our Future Health. As the leader of the programme, he discusses how it has the potential to transform the way people are treated in cancer. He also discusses how new technologies have improved genomics and how they have transformed our thinking around cancer.

“I'm a great believer in ‘if you can see it, then you can be it’. So I wanted to really provide a role model for young women in STEM, because I feel like there's not a lot of representation for working class young women in science. I wanted young people to look at me and say ‘she’s from a working-class background and she’s got a strong scouse accent and if she’s a scientist then I can be too’.” 

In this week’s episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Holly Ellis, Clinical Scientist in Genomics. On a mission to break stereotypes, Holly is the founder of ‘The Scouse Scientist’, a YouTube channel dedicated to demonstrating that science is for all, and in 2019 she completed the NHS Scientist Training Programme, including a MSc in Clinical Sciences (Genomics) from The University of Manchester. 

Today Holly talks about her early career, her YouTube channel and getting more young people into STEM. She also discusses Rosalind Franklin and her commitment to breaking stereotypes.

“In most countries where there's large scale funding, ethnic minority populations are, by definition, minorities. And so in order to collect enough ethnic minority data in the given healthcare system, you really have to oversample those people. And in order to do that you need to have good public engagement programmes to persuade them to participate and to reassure them that you're going to look after their data responsibly.” 

In this week’s episode of The G Word #sciencepodcast, Rich Scott is joined by Dr Hilary Martin, a group leader at the Wellcome Sanger Institute with a PhD in Human Genetics from Oxford University. Hilary’s research focuses on exploring genetic architecture in the Deciphering Developmental Disorders (DDD) study, with a particular focus on the role of rare recessive variants and polygenic risk.  

Today Hilary talks about the diversity of genomic data, working with British Pakistani populations and consanguinity. She also discusses polygenic risk scores and the Deciphering Developmental Disorders (DDD) study.

“The place where the genome has really had this massive impact over the last decade has been in rare disease, and in particular patients with undiagnosed disease. They are on these medical odysseys, often for years and years, going from doctor to doctor just accumulating emotional and financial burden without answers. The genome is such a powerful tool to solve these cases.” 

In this week’s episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Dr Euan Ashley, Professor of Medicine and Genetics at Stanford University, Non-Executive Board Member at AstraZeneca and author. Euan led the team that carried out the first medical interpretation of a human genome and the first whole genome molecular autopsy and has co-founded numerous companies. 

Today Euan talks about his book, ‘The Genome Odyssey,’ his group’s work on the first clinical interpretation of a human genome and his work with Personalis. He also discusses his interests during childhood and his early career.

“Let's take a pause and think about what we know from history about health and social inequalities, and what the technology is doing to that. Is it making it better for some people? Is it making it worse?” 

In this week’s episode of The G Word #sciencepodcast, Rich Scott is joined by Dr Mavis Machirori. Senior Researcher at the Ada Lovelace Institute, Mavis works at the intersection of data and tech and justice and equalities, with a particular interest in genomic data and the health and social inequalities that have emerged during the Covid pandemic.  

Today Mavis talks about her work at the Ada Lovelace Institute, her background in midwifery and diversity. She also discusses what matters to people and misinformation during the pandemic.

“Since 1953, when DNA was discovered by Watson and Crick and supported by Franklin, the NHS had already been focusing on genetic diseases. From the 1960’s, NHS genetic labs were born. Since that time, with the initiation of the Human Genome Project, we got to understand that it was possible to sequence all 3 billion + letters - A, C, G, A T - a human genome.”

This week on The G Word, Chris Wigley is joined by Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics in NHS England.

Sue and Chris talk about how the field of genomics has gone from being a curiosity-driven science to being mainstream since we got first sight of the whole human genome 2 decades ago. They talk about the NHS Genomic Medicine Service, our recent public dialogue for genomics in newborn screening, and about predictive, preventive, personalised medicine.

"Within the wider framework of personalised medicine, trying to identify treatments, diagnosis, prognosis, that is about a personalised individual. Genomics plays a really important role because our genomes are unique. Bioinformatics is there to try to identify how those genomes are unique and what they tell us about the consequences of those differences."

In this week’s episode of The G Word #sciencepodcast, Anna Tomlinson, the Chief Communications and Engagement Officer at Genomics England, is joined by Augusto Rendon, the Chief Bioinformatician at Genomics England and the architect and facilitator of our bioinformatics infrastructure. Augusto has a wealth of experience in deploying whole genome sequencing in healthcare. He is a research scientist with a vast background in computational biology and statistical genomics and he coordinated the delivery of various bioinformatics and analytics solutions for the 100,000 Genomes Project.

Today, Augusto talks about the use and anonymisation of data, the role of bioinformatics at Genomics England, personalised treatments and the multidisciplinary aspect of bioinformatics.

“It's not the number of genes that matter, it's how you use them - quite literally how you switch them on and off. There's a lot of complexity in the human genome, not in the types of genes, the building blocks, the types of Lego, but how you put that Lego together inside each cell, which genes are on and which are off. And, you know, it's still unclear just how all of that works.” 

In this week’s episode of The G Word #sciencepodcast, Rich Scott is joined by Ewan Birney, bioinformatician, Deputy Director General of EMBL and Non-Executive Director at Genomics England. Ewan led the analysis of the Human Genome gene set, mouse and chicken genomes and the ENCODE project and his main areas of research include functional genomics, DNA algorithms, statistical methods to analyse genomic information and use of images for chromatin structure. 

Today, Ewan talks about his work with the Human Genome Project, the sense of community amongst bioinformaticians and advances in leveraging genomic information. He also talks about which big topics don’t get enough attention and his research group.