Behind the Genes

Dave McCormick, Jenny Taylor and Professor Matt Brown: Reaching the full potential of genomic research

In this episode of The G Word, Dave McCormick, member of the Participant Panel at Genomics England is joined by Jenny Taylor*, a valued member of our research community, and Professor Matt Brown, our Chief Scientific Officer, to discuss the last decade of genomic research at Genomics England.

During this podcast our guests will consider:

• Is the National Genomic Research Library (NGRL) meeting its full potential?
• What is the future direction for research at Genomics England?
• How will Genomics England help research participants make connections with researchers who are interested in their gene or condition?

You can read the transcript here: Reaching-the-full-potential-of-genomic-research.docx 

 

"One thing I'm really keen to see is that [the NGRL] grows and continues to be bringing in details on new patients who are experiencing treatments and diagnostic processes in the current day…We're expecting that over the next three years it will grow to over half a million in size by the end of 2026. We also would like to see an increase in diversity, and I mean that not just in terms of clinical diversity, but also ancestral diversity."

 

*Jenny Taylor is an Associate Professor in Translational Genomics at the Wellcome Centre for Human Genetics, University of Oxford, and Co-Lead for the Genomic Medicine Theme at the Oxford Biomedical Research Centre.

John James and Suzannah Kinsella: Research priorities for sickle cell and genomics

For our World Sickle Cell Day episode of The G Word, Marie Nugent, Community Manager for the Diverse Data initiative at Genomics England, is joined by John James OBE, CEO of the Sickle Cell Society, and Suzannah Kinsella from the James Lind Alliance.

They discuss the new priority setting partnership for sickle cell and genomics, including the longer-term plan to engage communities to create space for learning and trust building, and the importance of the patient-voice in setting research agendas for the use of genomics in sickle cell disease. 

By creating a 'top ten' for future research priorities set by patients, their carers, and their healthcare professionals using a trusted methodology, we aim to build trust and understanding across patients, healthcare and research to bring maximum benefit to patients through the newly developing technology that is genomic medicine in the health service.

You can read the transcript here: Research-priorities-for-sickle-cell-and-genomics.docx

 

"It was a few years ago when I met the Chief Executive Office of Genomics England, and we had the first podcast about sickle cell. Why I remember it well is because I was arguing that why isn't there any action being taken by way of research and genomics for sickle cell... And so Marie, it was effectively a call to action. Here today talking about the Diverse Data, which is specific work to help us prioritise what the research priorities for sickle cell should be." - John James, OBE

 

You can also listen to the first podcast with John James and Chris Wigley.

Greg Elgar: Genomics 101 - What is whole genome sequencing?

In this episode of our explainer podcasts, we’ve asked Greg Elgar, Director of Sequencing R&D here at Genomics England, to clarify in less than 10 minutes, what is whole genome sequencing.

You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel.

You can read the transcript here: What-is-whole-genome-sequencing.docx

If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk.

Shelley Simmonds, Louise Fish and Amanda Pichini: How can we support complex patient journeys?

In this episode of the G Word, Shelley Simmonds, member of the Participant Panel at Genomics England, speaks to Louise Fish, CEO of Genetic Alliance UK, and Amanda Pichini, clinical lead for genetic counselling for Genomics England, to discuss how the patient journey has changed over the last 10 years for those living with rare conditions.

This year, we're celebrating our 10-year anniversary, and in this special episode our guests will delve into how we can continue to strengthen the relationships between Genomics England and charities such as Genetic Alliance, and we will explore the significance of these partnerships in transforming the landscape of support for individuals with genetic conditions.

You can read the transcript here: Supporting-complex-patient-journeys.docx

 

"Our challenges as charities is both to help shape the research and to help make sure that the research is addressing the things that matter most to people with living with rare genetic conditions and their families, but also to make sure that the benefits of that research actually reach patients and their families and really improve people's lives in the longer term."

Helen Dolling, Kym Winter and Melanie Watson: The impact of a genetic diagnosis on mental health

In this episode of the G Word, Vivienne Parry, the Head of Public Engagement at Genomics England, is joined by Helen Dolling, a researcher at the Centre for Family Research at the University of Cambridge, Kym Winter, the Clinical Director and founder of Rare Minds, and Melanie Watson, the Lead Genetic Counsellor for the Wessex Clinical Genetic Services, to discuss the impact that a genetic diagnosis can have on mental health for both the person directly affected and their wider family.

For Mental Health Awareness Week 2023 (15 to 21 May) we want to signpost to resources and support available for those families affected by a genetic diagnosis. Our guests discuss the gaps in mental health support and how the process of receiving a genetic diagnosis could be improved to support the mental health of those affected.

You can read the transcript here: Genetic-diagnosis-and-impact-on-mental-health.docx

 

Resources and support mentioned in this podcast:

Charities and patient organisations

Rareminds work in partnership with patient organisations to provide psychotherapeutic counselling, groups, and training about the mental health impact of rare conditions. 

Unique provide support, information and networking to families affected by rare chromosome and gene disorders.

Genetic Alliance UK have a comprehensive list of condition-specific patient organisations.

SWAN UK supports families affected by a syndrome without a name. 

Gene People provide valuable resources for adults and children affected by genetic disorders.

Affinity Hub signposts to emotional support (including counselling) for parents and carers of children with special needs.

 

Other resources

Rareminds and Medics4Rare Diseases have worked together on a module for Health Care Professionals on 'Rare Diseases and Mental Health'.

 

 

 

 

 

 

 

Greg Elgar: Genomics 101 - What is a genome?

We're going back to basics today, and in this explainer podcast, we’ve asked Greg Elgar, Director of Sequencing R&D here at Genomics England, to clarify in less than 10 minutes, exactly what is a genome.

You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel.

You can read the transcript here: What-is-a-genome.docx

If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk.

Tiggy Johnstone-Burt, Vicky Cuthill and Sally Shillaker: Our Nurses, Our Future

In this weeks' episode of the G Word, Naimah Callachand, Head of Product Marketing at Genomics England, is joined by Tiggy Johnstone-Burt, a Macmillan Genomics Clinical Fellow and a clinical nurse specialist, Vicky Cuthill, a nurse consultant, and Sally Shillaker, a health visitor and practice development lead in genomics, to discuss how both nurses and health visitors play a vital role in the patient care pathway for those who have received a genetic diagnosis.

For this years' International Nurses Day on 12 May, we're celebrating a brighter future of nursing. With the rapid advances in genomic medicine, both nurses and health visitors are uniquely positioned to translate genomic information into clinical care and to educate patients and families about the role of genomics in their health.

 

 

You can read to the transcript here: International-Nurses-Day.docx

 

"I would love to see an NHS service where genomic testing was part of the standard routine care…This is a beautiful example of advanced practice and I think that we [nurses and health visitors] are perfectly placed to be taking this on, and I'd really like to see a better recognition of that in the future."

Dr Nicola Byrne: What are the challenges of data governance in the digital age?

In this episode of the G Word, our Director of Ethics, Dr Natalie Banner, is joined by Dr Nicola Byrne, the National Data Guardian for health and adult social care in England. Listen to find out more about the challenges of data governance in healthcare, people’s relationship to their health and care data, the importance of transparency and accountability in how data is used to support better outcomes from health and care services. 

The National Data Guardian is responsible for ensuring that personal confidential data is used to improve health and care services while also maintaining thorough safeguards to protect this information. 

 

You can read the transcript here: National-Data-Guardian.docx 

 

"It's absolutely important that people feel that they can share that information and then feel confident... Whether that's for their own care or thinking about the benefit, rather, people in future through research and innovation and planning."

Dr Rich Scott: Genomics 101 - Genetics vs genomics, what’s the difference?

People often use the terms genetics and genomics interchangeably, but is this right? In the first of a series of explainer podcasts, we’ve asked Dr Rich Scott, Chief Medical Officer, and Deputy CEO here at Genomics England, to clarify in less than 10 minutes, exactly what these two terms mean and when we should use them.

You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel.

You can read the transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genetics-vs-genomics-whats-the-difference.docx  

If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk.

Adam Rutherford, Laurence Hurst, Cristina Fonseca and Vivienne Parry: Public views on genetics - what have we learnt?

A survey of over 2000 British adults conducted by the Genetics Society found that trust in genetics is high and went up significantly during the pandemic.

In this episode of the G Word our Head of Public Engagement, Vivienne Parry OBE, is joined by guests, Dr Adam Rutherford, geneticist, author, and broadcaster, Professor Laurence Hurst, Professor of evolutionary genetics and  Director of the Milner Centre for Evolution and Dr Cristina Fonseca, Head of Engagement and Communications at Genetics Society, to discuss findings from the survey and the supporting research paper published in Plos Biology exploring the links between someone’s understanding of science and their attitudes towards it.

 

You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Public-views-on-genetics.docx

 

"We're all responsible for communicating science.... and our jobs will never be done because this is a hard game it turns out."