Behind the Genes

Dr Anna Lewis: 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 on The G Word, 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. 

Dr Garrett Hellenthal: 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 of The G Word, 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. 

Sophia Luu and family: Creating awareness with East Asians about genomics

“[Sophia at Genomics England] is trying to design new ways to get people of different backgrounds to understand what the database is, donate, and ensure that the data gets used.”

Joining us on today’s episode of The G Word is Sophia Luu’s family, interviewed by Sophia Luu herself, our Design Researcher on the Diverse Data Programme. She is joined by her grandfather, her grandmother, her father and her mother to discuss why not many people of East Asian descent are in our database.

During their discussion they touch on our Diverse Data Programme and the different groups of people missing in our dataset. They also discuss past experiences with doctors, abortion and the religious and cultural aspects of healthcare.

Primrose Granville: The journey to better healthcare for everyone

“The journey of a thousand miles begins with one step. I believe we have made that step and that they are now becoming large strides.” 

In this first episode, Dr Maxine Mackintosh, our Diverse Data Programme lead, speaks to Primrose Granville, an award-winning broadcaster, kidney recipient and community health campaigner leading a Black Heath Matters Programme on behalf of Genomics England in Bristol. 

Primrose was born, raised and educated in Jamaica, migrating to the UK when she was 27 years old. Today, 25 years on, she is a journalist, presenter and producer on BCFM and a well-known figure at the heart of the African and Caribbean community in Bristol.

She was born with Polycystic Kidney Disease, as was her mother, grandmother, sister, son and probably several others in her family. She shares her personal journey, from having a kidney transplant to making it her life’s work to campaign for better healthcare for everyone. She also tells us why we need to change the narrative if we are to succeed in our ambitions to encourage people from all ethnicities to participate in medical research. 

Jo Taylor: Bringing the patient voice to metastatic cancer issues

“We need to have these open and honest conversations with patients, because otherwise where is the duty of care? We're failing patients if we’re not being honest with them and saying, ‘there’s no evidence of disease at the moment, we believe that we've done everything that we can to make sure that the cancer doesn't come back, but unfortunately around 30% of people will develop secondary breast cancer and we don't know who they will be.’” 

In this week’s episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Jo Taylor, Chief Executive Officer and Founder of After Breast Cancer Diagnosis (ABCD), Founder of METUPUK and user involvement representative for Macmillan and GM Cancer.   

Today Jo talks about her own inspirational cancer story, bringing the patient voice to metastatic cancer issues and personalised care. She also discusses her free book ‘Real stories by patients for patients’ and the Darker Pink campaign.  

Nicola Blackwood: Genomic technologies and a diagnostic odyssey

“To be doing something with rare diseases is, for me, an absolute pleasure and a joy because there are too many people in this country who are still looking for a diagnosis and we’re doing something to help.”

In this week’s episode of The G Word, our Chief Executive Officer, Chris Wigley, is joined by Baroness Blackwood, member of the Lords Science and Tech Select Committee and Chair of Genomics England. Nicola was created a life peer as Baroness Blackwood of North Oxford and has chaired the Human Tissue Authority since 2018.

Today Nicola talks about her own 30-year diagnostic odyssey and how life changing the integration of genomic technologies into routine clinical care will be. She also discusses how important is it that we continue international collaboration for the future of genomic healthcare and what we need to work through as a society. 

Deb Lancaster: Wrangling the research community

“Speaking as someone who's spent most of my career in Pharma, I know how important data is to bringing medicines to market, and to understand; where does the patient need a new treatment? How can that be targeted? How can discovery be pulled together so that you can actually give that patient a drug that's effective and safe?” 

 

In this week’s episode of The G Word science podcast, our Head of Public Engagement, Vivienne Parry, is joined by Deb Lancaster, Service Owner in our Digital team at Genomics England, who makes sure that our researchers within the academic community and biotech industry, are able to interact with our data in an easy, simple and effective way. 

 
Today Deb talks about the unique way that Genomics England is working with the NHS to build the Genomic Medicine Service, and our secure and safe Research Environment where researchers can work together for the benefit of participants and for patients in the future. Deb is also passionate about getting women and girls into STEM. 

Dr Nick Sireau: The impact of patient groups

“What Findacure does is try to promote this concept of drug repurposing, and all the issues around there. That is another area of hope for rare diseases.”

In this week’s episode of The G Word #sciencepodcast, our Chief Executive Officer, Chris Wigley, is joined by Dr Nick Sireau, the CEO and Chairman of the AKU Society and Co-founder and Chairman of Findacure. Additionally, Nick is a fellow of the Ashoka global fellowship of social entrepreneurs.

Today Nick talks about alkaptonuria (AKU also known as “black bone disease”), an ultra-rare genetic disease that his two children have and the DevelopAKUre project that was established to improve the understanding of alkaptonuria. Chis and Nick discuss Findacure which Nick co-founded to share advice and knowledge between patient groups, they also talk about how patient groups help drug discovery.

Dr Robert Green: A liberating vision of the future

“We have a wild card here that is changing the risk-benefit equation for all babies in order to detect these rare cases.”

In this week’s episode of The G Word #sciencepodcast, our Chief Executive Officer, Chris Wigley, is joined by Dr Robert Green, Professor of Medicine (Genetics) at Harvard Medical School and a physician-scientist who directs the G2P Research Program in translational genomics and health outcomes in the Division of Genetics at Brigham and Women’s Hospital and Harvard Medical School. Additionally, Dr Green is principal investigator of the NIH-funded REVEAL Study and is internationally recognised for research and policy efforts accelerating the implementation of genomic/precision medicine.

Today Robert talks about his work around newborn sequencing with The BabySeq Project and what the programme is hoping to achieve. He also discusses Genomes2People and the research they conduct to accelerate the implementation of genomic medicine and the promise of precision health.

Emma McCargow: The cutting-edge of cancer technology

“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.