Behind the Genes

Dr Jack Bartram: Can genomics improve our understanding of childhood cancers?

In this episode of the G Word, Naimah Callachand, Head of Product Engagement and Growth at Genomics England, is joined by Dr Jack Bartram, consultant paediatric haematologist at Great Ormond Street Hospital (GOSH) for Children.

Dr Bartram leads on molecular diagnostics within the haematology department at GOSH and has expertise in minimal residual disease in acute lymphoblastic leukaemia. He is currently the clinical lead for haematological malignancy genomics in the NHSE North London genomic laboratory hub and has been responsible for the implementation of advanced genomics and whole genome sequencing into clinical practice at GOSH.

Approximately 2,000 children in the UK receive a childhood cancer diagnosis each year. However, childhood cancers account for a relatively small percentage (less than 1%) of all cancer diagnoses in the UK. This rarity has posed challenges in fully understanding the associated risk factors and underlying causes. In this podcast Dr Bartram discusses how genomics has emerged as a pivotal tool in enhancing our understanding, offering opportunities for precise diagnosis, personalised treatment, and improved screening methods for childhood cancer.

 

You can read the transcript here: Childhood-cancer-awareness.docx 

 

"If I look back on and if I reflect on the last three years, we can probably accurately say for at least a quarter of patients it's [genomics] given us additional information, which has either aided in diagnosis or like I'd say to help re-stratify a patient or potentially reveal a target for a therapy that we didn't know of before."

Will Macken, Nicky Whiffin, Charlotte Durkin and Jamie Ellingford: Early Career Researchers navigating the field of genomics

This week on the G Word, our host Will Macken, is joined by a panel of Early Career Researcher (ECR) representatives to discuss how ECRs can navigate and position themselves within the ever-changing field of genomic research.

Will is a clinician and researcher at the University College London Queen Square Institute of Neurology and Great Ormond Street Hospital. Will is also an ECR representative on the Genomics England Clinical Interpretation Partnership board. In this week's episode he's joined by:

• Nicky Whiffin, Associate Professor and Sir Henry Dale Fellow at the University of Oxford, and Quantitative Genomics representative on the Genomics England Clinical Interpretation Partnership board
• Charlotte Durkin, Head of Programme at the Medical Research Council, and
• Jamie Ellingford, Lead Genome Data Scientist for Rare Disease at Genomics England.

 

"There can be people that just pick up basic skills to analyse the dataset that's in front of them that they've spent months in the wet lab trying to generate. Through to people who are proper software engineers and will be writing unit tests to test every single line of that code. I don't think it really matters where you sit on that continuum as long as it works for you, and it aligns with your future career progressions and what you want to be in the future, essentially."

You can read the transcript here: Early-Career-Researchers.docx

You can find the information on resources, events and support for ECRs mentioned on this podcast on our website.

We've got free-to-attend monthly research seminars, and Research environment training sessions for those who have joined the Genomics England research community - find out more and register for our next sessions here.

Email us if you have any questions: gecip-help@genomicengland.co.uk.

Sarah Justine Kerruish, Hélène Guillaume Pabis, Emilia Molimpakis and Lois Gulliford: How can we overcome bias in healthtech?

In this episode of the G Word, Lois Gulliford, Legal Counsel at Genomics England, is joined by Sarah Justine Kerruish, Chief Strategy Officer at Kheiron Medical, Hélène Guillaume Pabis, Founder and CEO of Wild.AI and Emilia Molimpakis, CEO and Founder of thymia, to discuss how to tackle bias in healthtech.

With growing concerns about the safety of AI prompted by rapid technological advancements, a crucial question arises: how can we guarantee the equitable and unbiased utilisation of AI? Our guests delve into this issue and examine the importance of integrating diverse data sources.

You can read the transcript here: How-can-we-overcome-bias-in-healthtech.docx

 

"I think multimodal is the future, but we have a very special responsibility to be inclusive - to make sure that we are completely rigorous and robust in making sure that women and people from ethnic minorities are represented from the beginning and not as an afterthought."

 

Jamie Ellingford: Genomics 101 - What is a bioinformatician?

In this episode of our explainer podcasts, we’ve asked Jamie Ellingford, Lead Genome Data Scientist for Rare Disease at Genomics England, to explain what bioinformaticians do and how they're involved in the study of genomes, in less than 10 minutes.

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-bioinformatician.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.

Dr Rich Scott and Professor Zornitza Stark: Genomic newborn screening for rare diseases – a review

In this episode of the G Word, Naimah Callachand, Head of Product Marketing at Genomics England, is joined by Dr Rich Scott, Chief Medical Officer and Deputy CEO at Genomics England, and Professor Zornitza Stark, clinical geneticist at the Victorian Clinical Genetic Services in Melbourne, to discuss their recent paper published in the Nature Review's Genetics journal on 'Genomic newborn screening for rare diseases'.

Rich and Zornitza discuss and compare newborn screening practices on a global scale, and delve into the benefits and challenges of incorporating genomic sequencing into newborn screening.

Read the full review paper here. 

You can read the transcript here: Genomic-newborn-screening-for-rare-diseases.docx

 

"We’re just also on the cusp of what feels like a really potential game-changing period in terms of the availability of treatments and interventions for rare conditions."

 

Dr Prabhu Arumugam: Genomics 101 - What is multimodal data?

In this episode of our explainer podcasts, we’ve asked Dr Prabhu Arumugam, Director of Clinical Data and Imaging at Genomics England, to explain multimodal data in less than 10 minutes.

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-multimodal-data.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.

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.