Behind the Genes

“Clinicians are holding people's lives in their hands, and so for me data is about making sure they have all the information they need about where an individual comes from, their living circumstances and their family history, whilst also having the benefit of what clinical best practise will tell you to do or some of the large pattern analysis you can only do in very large populations.” 

In this week's episode, Chris Wigley is joined by Catherine Pollard, NHSX Director of Tech Policy and Curator of One Health Tech Cambridge Hub.  

They discuss NHSX, involving patient groups in decision making and digital development in health and social care. The also talk about One Health Tech Cambridge and equality and diversity in health innovation.  

“There are problems that we as humans have tackled that are extremely amenable to machine learning approaches, challenges like classifying things or, given a lot of data, making a prediction about the next step in that data. I am super excited about machine learning being able to tackle these challenges.”

In this week's episode, Chris Wigley is joined by Misha Kapushesky, Chief Executive Officer and Founder of Genestack.  

They discuss making data more accessible, his work with Genestack and data mining. They also talk about AI and machine learning and building trust.

“The first step in the identification of any rare condition is recognising the features that lead to the diagnosis, something that’s easy to do if the person sitting in front of you has classic symptoms. However, in dermatology things are never that simple - somebody’s clinical presentation can be very, very subtle.” 

In this week's episode, Vivienne Parry is joined by Dr Neil Rajan, Honorary Consultant Dermatologist at Newcastle’s Royal Victoria Infirmary and Senior Lecturer at Newcastle University, and Dr Ruth Murphy, Consultant Dermatologist and former President of the British Association of Dermatologists. 

They discuss undiagnosed skin conditions, cracking unsolved cases and the value of genomics. They also talk about how clinicians and patients can get involved and what the future holds.

“We have huge imbalances in our data in the world of genomics, and datasets all over the world are dominated by individuals of European ancestry. By the time we get to the point where a dataset is imbalanced, its actually built on years if not decades of individual decisions and processes."

In this week's episode, Maxine Mackintosh is joined by Bilal Mateen, Clinical Technology Lead at the Wellcome Trust, and Evan Tachovsky, Director and Lead Data Scientist at the Rockefeller Foundation.  

They discuss funding and funders, the world of health and data science and imbalanced datasets. They also talk about their backgrounds and equity and diversity.  

“Although there is this sense where you don't really find as many women in science, and when we get missed out of science, I think we have been really lucky and fortunate to work with incredible women in large numbers. We're quite lucky to find the experiences that we have.” […] “Life is so precious, we really shouldn't be spending any time doing things we don't enjoy.”

In this week's episode, Dr Ellen Thomas, Clinical Director and Director of Quality at Genomics England, is joined by Arzoo Ahmed, Ethics Lead of the Newborn Genomes Programme, and Cassandra Smith, Senior Bioinformatician, both at Genomics England. Ellen worked on the delivery of the 100,000 Genomes Project and Cassie did her PhD using bioinformatics to study parts of mitochondria before joining the operations team at Genomics England. Arzoo completed her MPhil in Mediaeval Arabic Thought before moving onto the Nuffield Council on Bioethics and then joining the Ethics Team here at Genomics England.

In this discussion, these three brilliant women talk through their roles and what inspired them to pursue a career at Genomics England. In celebration of the International Day of Women and Girls in Science, they also discuss the challenges they have faced along the way and how being a woman has impacted their career.

“I hope it will happen in our lifetime, that we will start to learn how to use the totality of information that's available on tumours. And I don't just mean genomics, I mean any of it - including all the bits around the tumour, the microenvironment, the immune system. In the last 10 years alone, cancer research has grown phenomenally. It's been extraordinary to be involved in all of it. It's a very real privilege to be to be in this space.” 

In this week's episode, Chris Wigley is joined by Serena Nik-Zainal, a consultant in clinical genetics, a Cancer Research UK Advanced Clinical Scientist at the University of Cambridge and an Honorary Consultant in Clinical Genetics at Addenbrooke’s Hospital in Cambridge. She was the first woman to win the Josef Steiner Cancer Research Award in 2019. 

Serena discusses sharing data, personalised treatment for cancer patients and the impact of the 100,000 Genomes Project. She also talks about the involvement of participants, cancer research and the need for genomic data diversity. 

“If you want to reduce suffering and death, you don't do that by depositing a PDF in a journal archive that gets read by eight people. You've got to go out there in the real world, you've got to change activity and behaviour.” 

In this week's episode, Chris Wigley is joined by Ben Goldacre, Director of TheDataLab at Oxford University, author and and lead on an upcoming review about better use of NHS data.

He discusses the use and safety of data, his book Bad Pharma and OpenSAFELY. He also talks about his early career and connecting data.   

“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. 

“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. 

“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.