Behind the Genes

Newborn sequencing

“We want to help families with rare conditions which are treatable and families with less rare conditions which are treatable. I think this equity is an important principle in terms of how we take care of children in the UK.” 

In this week's episode, Vivienne Parry is joined by David Bick, Clinical Advisor for the Newborn Genomes Programme and former Faculty Investigator and Chief Medical Officer at HudsonAlpha.  

He discusses his experience with newborn sequencing, why whole genomes rather than exomes is the way forward and setting up a newborn programme. He also talks about what led him to genomics and the reasons he came to the UK. 

Ethics and AI

“How do we better use big health data, both for the population’s health and for the health of individuals? There are an enormous number of ethical implications, and we must do our best to consider them.” 

In this week’s episode, Lyra Nightingale is joined by Jessica Morley, Policy Lead at Oxford DataLab, former Tech Advisor at the Department of Health and Social Care and specialist in ethics and AI. 

Jessica discusses the gap between theory and practice in AI ethics, legislation and regulation in biotech and ethical mistakes versus ethical successes. She also discusses her background and her work with Oxford DataLab. 

Patient involvement

“If we can identify more quickly what is going on with children, then we can treat them faster, and hopefully halt progression or have early intervention, or make a change, bring communities together, so we can understand what's similar and different across these different diseases.” 

In this week’s episode, Vivienne Parry is joined by Dr Christina Waters, Senior Vice President of Genomic Insights and Solution at Congenica and Founder of Rare Science, a non-profit that accelerates treatments for children with rare diseases. 

Christina discusses her work with Rare Science, patient involvement and genetic interpretation. She also discusses her upbringing and the merits of industry.

Celebrating 2021 - end of year highlights

“It’s been a fantastic year of conversations with an incredible cast of people, and we have learned so much from each of them. What our discussions show is we are on the right track but have plenty more to do in 2022 – and beyond. Thanks so much for joining our conversations, and hope to see you again for The G Word next year”  

In this week’s episode, Chris takes a look back at 2021.  

He remembers chats with Dr Kenny Baillie, several members of the Participant Panel, Baroness Nicola Blackwood, Dr Adam Rutherford, Dr Natalie Banner and many more.  

He recalls conversations about the need to view people holistically, consider their situations and hear their voices. He discusses lessons learnt about breaking stereotypes, getting young people into STEM, data, disabilities, long-term illness and patient choice.  

He also talks about the podcast’s original aims: about how it was created earlier in the year to get more people familiar with genomics as a whole, in as many ways as possible, whether in the context of its use in medicine transparent and ethical use of people’s data, or innovation in the tech sector.

How your environment impacts your genome

“Now, of course, we've got multiple new technologies coming around. Each of them is going to have areas where they're going to completely enable resolution of key aspects of diseases and lead to the development of much better understanding of disease pathogenesis, and ultimately to better treatment of diseases.” 

In this week's episode, Chris is joined Matt Brown, our new Chief Scientific Officer. Formerly Director of NIHR Guys and St Thomas’ BRC and Director of Genomics at Queensland University of Technology, he played a significant role in the development of genome-wide association study (GWAS) methodology and is a fellow of both the Australian Academy of Sciences and the Australian Academy of Health and Medical Sciences. 

He discusses his priorities in his new role, how your environment impacts your genome and his hopes for 2022. He also talks about his early career and working with the Participant Panel. 

Putting our ancestors in a Tesla

"We only learned to change human DNA 10 years ago; we as a species are 200,000 years old. So gene editing to treat disease is not even in its infancy - it's in its first minute of being born. To say that we have no idea whether to use it to make changes to future generations would be the understatement of all time. I mean, this is the equivalent of taking our ancestors who roamed Neolithic Europe and putting them in a Tesla."

In this week's episode, Chris is joined by Fyodor Urnov, Director of Technology & Translation at the Innovative Genomics Institute and Professor of Molecular and Cell Biology at the University of California, Berkeley. Listed on the 2014 Thomson Reuters list as one of 'The World's Most Influential Scientific Minds', he has authored over 100 scientific publications, invented more than 130 US patents and won the Presidential Award for Excellence in Teaching at Brown University. 

Fyodor discusses genome editing, his involvement in the US's effort to test for COVID-19 and CRISPR technology. He also talks about his education and academia.

Understanding communities

“If you really embed yourself in the community, embed yourself within the people that are going to be using a solution and try to understand from them what their pain points are, you build trust from the outset. You’re saying, ‘we're doing this for you and we're working together to do it’.” 

In this week's episode, Rakhi Rajani, our Chief Digital Officer, is joined by Dr Harpreet Sood, a primary care doctor and digital health expert. Formerly Associate Chief Clinical Information Officer (CCIO) and Senior Fellow to the CEO of NHS England, he is a board member at Health Education England (HEE), a trustee at the South Asian Health Foundation and Co-Founder of the NHS Digital Academy. 

Harpreet discusses developing NHS England’s digital health and data strategy, his role at Health Education England and new models of primary care. He also talks about debunking Covid-19 vaccine myths and The South Asian Health Foundation.  

Connecting data

“Our big mission and vision is to make sure that any data that can be used to cure these diseases is actually used. And we do that by connecting as much data as possible - as many types from as many different sources as we can find.” 

In this week's episode, Chris is joined by Dr Maria Chatzou Dunford, CEO and Co-Founder of Lifebit and expert in bioinformatics, medical informatics and high-performance computing. With a PhD in Biomedicine, she is also part of the developing team at Nextflow, a bioinformatics engineer at SciLifeLab and a passionate entrepreneur.  

Maria discusses her work with Lifebit, founding multiple companies and advances in AI. She also talks about the rate at which genomic data is being generated and making data useable. 

How do we go about defining and conceptualising ancestry?

“We need some more conceptual clarity around ancestry so that we can build up some recommendations on how it should be used in genomic research. 

There have been a lot of previous recommendations, around the use of race, ethnicity and ancestry in genetic research, but most don’t say much about ancestry. I think that it's fitting to get more of a conversation around it. I am really excited about the work Genomics England are doing to put an extra layer of logic around diversity.” 

In our final episode of our Diverse Data Week, Dr Anna Lewis, a scholar of Ethical, Legal and Social implications (ELSI) of Genomics, talks with Dr Maxine Mackintosh, our Diversity Programme Lead, about how we should go about defining, classifying and conceptualising ancestry. Together they discuss a range of common issues and potential solutions. 

What can we learn about human history using DNA?

“It’s incredibly important that we build up reference data sets in other worldwide populations so that we can learn more about the ancestry of people.”

On today’s episode, James Cook, one of our Bioinformaticians in Research Services at Genomics England, is joined by Dr Garrett Hellenthal, a Sir Henry Dale Fellow working on constructing and applying statistical methods to infer human history using genetic data at UCL Genetics Institute (UGI).

Today, Garrett and James talks about population genetics and diverse data. They discuss a recent study in which Garrett analysed data from Ethiopian populations to study the sociological features that lead to genetic differentiation among ethnicities and the People of the British Isles (PoBI), a project to create the first detailed genetic map of a country.