Behind the Genes

Chris Wigley: The journey to the Human Genome Project and beyond with Dr Francis Collins

In this episode of the G Word, Chris Wigley, CEO at Genomics England, is joined by renowned physician-geneticist, Dr Francis Collins, best known for his landmark discoveries of disease genes and his previous leadership of the international Human Genome Project. Dr Collins currently serves as a Senior Investigator in the intramural program of the National Human Genome Research Institute and as a Senior Advisor to the National Institutes of Health (NIH) Director. Dr Collins is the longest serving Presidentially-appointed director of the NIH (2009-2021).

Beyond his work on the Human Genome Project, Dr Collins has made significant contributions to advancing medical research and precision medicine. He has been a strong advocate for the responsible application of genomics in healthcare and has received numerous awards and honors for his contributions to science and medicine. In this episode, he speaks to Chris Wigley about his journey from eager Chemistry student to co-leader of the landmark Human Genome Project and his thoughts on what's next in the world of genomics. 

 

You can read the transcript here: Chris-Wigley-interview-with-Francis-Collins.docx

 

"My dream, Chris, is that we come up with, in the next decade, a scalable approach to every genetic disease where you know the mutation."

Emma McCargow: Genomics 101 - What is long-read vs short-read sequencing?

In this episode of our explainer podcasts, we’ve asked Emma McCargow, Programme Lead for the cancer programme at Genomics England, to explain in less than 10 minutes, the difference between long-read and short-read 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: Long-read-vs-short-read-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.

Helen Webb, Lizzie Mordey, Kirsty Russell and Prabs Arumugam: How can advances in genome sequencing support patients through their sarcoma journey?

In this episode of the G Word, Helen Webb, Product Lead for the bioinformatics pipeline at Genomics England, is joined by Dr Prabs Arumugam, Director of Clinical Data and Imaging and Caldicott Guardian for Genomics England and Kirsty Russell, Product Manager for cancer long-read sequencing at Genomics England, as they speak to Lizzie Mordey, a clinical trials coordinator, whose husband Stevie sadly passed away last year after receiving a sarcoma diagnosis.

On average, 15 people in the UK are diagnosed with sarcoma cancer every day, but awareness of its signs and symptoms remains low. When Stevie first became unwell, after months of inconclusive tests, it was not until he had whole genome sequencing, that Stevie finally had some answers and received a diagnosis of sarcoma. July is Sarcoma Awareness Month, and in today's podcast, Lizzie takes us through Stevie's journey and how whole genome sequencing can provide answers and guide treatment decisions for patients diagnosed with sarcoma.

 

You can read the transcript here: Sarcoma-awareness-month-transcript.docx

 

If you'd like some further help or support after listening to this podcast, Sarcoma UK is a national charity that funds vital research, offers support for anyone affected by sarcoma cancer and campaigns for better treatments. The free Sarcoma UK Support Line is here for every person affected by sarcoma. You can call the confidential Sarcoma UK Support Line on 0808 801 0401 or email supportline@sarcoma.org.uk,or text 07860 058830 to speak with a specialist adviser.

 

Dr Natalie Banner: Genomics 101 - What is the National Genomic Research Library?

In this episode of our explainer podcasts, we’ve asked Dr Natalie Banner, Director of Ethics at Genomics England, to answer in less than 15 minutes: what is the National Genomic Research Library and what is it used for?

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-the-National-Genomic-Research-Library.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.

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.