Behind the Genes

Joey was diagnosed with DYRK1A syndrome at the age of 13, through the 100,000 Genomes Project. DYRK1A syndrome is a rare chromosomal disorder, caused by changes in the DYRK1A gene which causes a degree of developmental delay or learning difficulty. In today's episode, Naimah Callachand, Head of Product Engagement and Growth at Genomics England, speaks to Joey's parents, Shaun Pye and Sarah Crawfor...

In this explainer episode, we’ve asked Clare Kennedy, Clinical Bioinformatician at Genomics England, to explain what the difference is between DNA and RNA, 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 . If you’ve got any questions, or have any other topics you’d like us to explain,...

There are a range of outcomes from a genomic test. The results might provide a diagnosis, there may be a variant of uncertain significance , where a genetic variant is likely the cause of the condition, or there might be no particular gene found that is linked to the phenotype or clinical condition - also known as a "no primary finding" result. In this episode, our guests explore the impact of a "...

In this explainer episode, we’ve asked Helen Brittain, Clinical Lead for Rare Disease Diagnostics at Genomics England, to explain what a variant of uncertain significance is, 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 . If you’ve got any questions, or have any other topics you’d...

29 February marks Rare Disease Day. This day is an opportunity for the rare community to come together to raise awareness of the common issues affecting those living with rare conditions. A rare condition is a condition that affects less than one in 2,000 in the population, and although rare conditions are individually rare they are collectively common. It is estimated that there are over 7,000 ra...

In this explainer episode, we’ve asked David Bick, Principal Clinician for the Newborn Genomes Programme at Genomics England, to explain more about the Generation Study, in less than 10 minutes. For more information you can listen to our podcast episode where David discusses the conditions that we will initially look for in the study . You can also find a series of short videos explaining some of...

In January we saw experts from across the genomics ecosystem, including patients and those with an interest in genomics, gather at the Festival of Genomics - the UK's largest annual life sciences event. In this episode, our host, Vivienne Parry, Head of Engagement at Genomics England, speaks to Louise Fish, CEO of Genetic Alliance UK , and Professor Matt Brown, Chief Scientific Officer at Genomics...

In this explainer episode, we’ve asked Ana Lisa Tavares, Clinical Lead for rare disease research at Genomics England, to explain what a rare condition is, 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 If you’ve got any questions, or have any other topics you’d like us to explain, fe...

On this episode, we delve into the promising advances that artificial intelligence (AI) brings to the world of genomics, exploring its potential to revolutionise patient care. Our guests discuss public perspectives on AI in genomics and address the ethical complexities that arise in this rapidly evolving field. Gain valuable insights into the future landscape of genomics and AI, as our experts dis...

In this instalment, our guests engage in a compelling discussion centred around a recently published paper that supports the integration of whole genome sequencing into standard cancer care .  Our guests shed light on the transformative potential of combining health data with whole genome data. Discover how this innovative approach empowers doctors to deliver more personalised and effective care....

As we approach the conclusion of 2023, we reflect on a year that not only signifies our 10-year anniversary but also marks another chapter of our podcast. Throughout the year, guests have joined us fortnightly to share their research, stories, and aspirations for the future of genomic healthcare.  In this special end-of-year episode, Naimah Callachand sits down with Dr Rich Scott, Interim Chief Ex...

On today's episode, our guests will be discussing the CanGene-CanVar programme . Funded by Cancer Research UK, the 5-year programme aims to create an interface between NHS clinical care and research that will expand genetic testing access for those with inherited cancers. Our host Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Dr Helen Hanson, Consultant in...

This year as we celebrated our 10-year annivesary, the NHS celebrated a significant milestone of 75 years. In this episode we reflect on our journey over the last 10 years, including the impact of embedding genomic testing into the NHS, how it all started with the 100,000 Genomes Project, and how patients have influenced the shape of the Genomic Medicine Service today. Host Rebecca Middleton, Vice...

Genetic Counsellors play an important part in healthcare and research. This Genetic Counsellor Awareness Day we focus on the role genetic counsellors have in research, to help improve care for patients and families. On this episode, Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Emma Walters, member of the Participant Panel at Genomics England, and Jonathan...

Unfortunately, please note you may be able to hear some background noise or static during some parts of the recording. In this episode, Candice King, Patient and Public Engagement Manager and Will Townley, Cohorts Manager who both work at the Diverse Data initiative at Genomics England, are joined by Dr Mie Rizig and Sir John Hardy, who both work at University College London (UCL). This podcast de...

The Newborn Genomes Programme is delivering the Generation Study in partnership with the NHS. The study will explore the possibilities of whole genome sequencing in newborn babies, including to identify a wider range of rare genetic conditions current NHS newborn blood spot test . To do this, we have undertaken significant engagement work to identify the genetic conditions that should be looked fo...

In this episode, 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 cl...

This week, 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...

In this episode, 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 qu...

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 re...

In this episode, 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 disea...

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 g...

In this episode, 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 t...

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:...

In this episode, 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...