Behind the Genes

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."

The Errol McKellar Foundation and friends of Caswell Thompson: Prostate cancer awareness

The Errol McKellar Foundation focuses on giving presentations and talks around the UK to raise the awareness of important men’s health issues, especially prostate cancer. Friends of Caswell Thompson (FOCT) is an organisation set up for, and dedicated to, raising awareness about prostate cancer in the BAME communities in Bristol and surrounding towns and villages through a range of activities, with a particular focus on reaching black men, in whom the incidence of prostate cancer is 1 in 4, compared with 1 in 8 in the general population.

You can read our transcript here: The-Errol-McKellar-Foundation-and-friends-of-Caswell-Thompson.docx 

 

"The fear of knowing vs. the fear of doing nothing."

Marie Nugent, Community Manager for Diverse Data at Genomics England, is joined by Errol McKellar, MBE, founder of the Errol McKellar Foundation, and the MOT yourself campaign, and Errol Thompson and Errol Campbell, Directors of Friends of Caswell Thompson, who are dedicated to supporting families affected by prostate cancer in and around Bristol. Today, we'll be hearing about the impact these two incredible companies are having in raising awareness of prostate cancer risk in the communities. 

Professor Anneke Lucassen and Dr Faranak Hardcastle: Why data isn’t neutral

Today, on The G Word, Lyra Nightingale, our ethics lead at Genomics England, is joined by Professor Anneke Lucassen and Dr Faranak Hardcastle in a deep discussion about ethics and data. They discuss the neutrality of data, cultural humility in research, the role of structural racism in science and the role of co-production in diversity.

You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Professor-Anneke-Lucassen-and-Dr-Faranak-Hardcastle.docx   

 

"Data is not neutral, or objective, because they don't exist in a vacuum. And they are produced by processes that we put them through, we curate them, we select them, collect them, clean them, edit them, and classify them and then end up analysing them."

References:

1. Bowker, Geoffrey C., and Susan Leigh Star. Sorting things out: Classification and its consequences. MIT press, 2000.
2. Gitelman, Lisa, ed. Raw data is an oxymoron. MIT press, 2013.
3. Ruppert, Evelyn, and Stephan Scheel, eds. Data practices: Making up a European people. MIT Press, 2021.

The Participant Panel: What are you doing to keep my data safe?

What is the impact of the participant data from the 100,000 Genomes Project? Rebecca Middleton and Jillian Hastings Ward explore these questions and discuss how the science has evolved at Genomics England with our CEO, Chris Wigley, Head of Translational Genomics, Dr Suzi Walker (a.k.a. the gene detective!) and Clinical Director and Director of Quality, Dr Ellen Thomas.

We are taking you back to the Reanalysis Webinar for Participants, where Jillian, Chair of the Participant Panel, and Rebecca, Vice Chair of the Participant Panel, asked Chris, Suzi and Ellen questions that the participants had about Genomics England's approach to reanalysis. Hear directly from participants of the 100,000 Genomes Project! 

 

You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Reanalyis-Webinar.docx 

 

''What should I do? Should I have another test? If so, what test should I have? What should be my next steps?''

The Participant Panel at Genomics England is currently looking for new members. Email us at participantpanel@genomicsengland.co.uk to apply and find out more.

 

Chris Wigley: Goodbye 2022, hello 2023!

As we draw a close to 2022, Chris Wigley takes us through the best parts of the year in this short but sweet episode of The G Word. From our 10-year anniversary to GERS 2022 to our inspiring patient stories, Genomics England has achieved many milestones this year. We have enjoyed the privilege to speak to so many incredible people from across the world to talk about what we love most, genomics. 

 

Thank you to our wonderful listeners, see you in 2023!

 

You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/End-of-year-transcript.docx