Behind the Genes
Behind the Genes is a podcast from Genomics England that explores genomic healthcare. It features deep-dive episodes on the latest research and the lived experiences of people affected by rare conditions and cancer, alongside a Genomics 101 series that explains complex genetics terms in simple language.
Episodes
How can genomics help us understand rare conditions?
In this explainer episode, we’ve asked Jamie Ellingford, Lead Genomic Data Scientist for Rare Disease, to explain how genomics is helping us better understand rare conditions.
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, let us
How is research changing the role of midwives in maternity care?
When people think of midwives, they often think about pregnancy and birth, but the reality of modern midwifery is far broader.
In this episode of Behind the Genes, our guests explore the many different roles midwives play across healthcare, from clinical care and safety improvement to research and genomics.
The conversation looks at how midwives are helping shape the future of maternity care thr
What does a midwife do?
In this explainer episode, we’ve asked Kate Stanbury, research midwife on the Generation Study, to tell us more about the vital role that midwives play.
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, let us know on podcast@genomi
How is genomic research being guided by patient and participant voices?
In this episode, we celebrate 10 years of the Participant Panel and explore how genomic research is being guided by patient and participant voices.
Made up of people who have consented for their genome, or the genome of their loved one, to be included in the National Genomics Research Library, the Panel plays a vital role in shaping how research is designed, how data is used, and how genomics is
What is the Participant Panel at Genomics England?
In this explainer episode, we’ve asked Lisa Beaton, Panel Member and Parent Representative for SWAN UK, to tell us about the Participant Panel.
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, let us know on podcast@genomicsengland
What if a treatment created for one person could transform care for thousands?
In this episode, we explore how individualised medicines are evolving from “n=1” treatments (a treatment effective for a single individual) into approaches that could transform care for many people living with rare conditions.
Advances in genomic medicine are making it possible to design highly targeted treatments based on an individual’s genetic information. While these therapies may begin as be
What is de-identified data?
In this explainer episode, we’ve asked Georgia Chan, Senior Data Wrangler at Genomics England, to explain what de-identified data is.
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, let us know on podcast@genomicsengland.co.uk.
Yo
Can blood cancer be inherited?
Blood cancers are the fifth most common group of cancers in the UK. But for a small number of people, the condition may have an inherited genetic cause.
In this episode of Behind the Genes, we explore the role of genetics in blood cancer, and what an inherited risk means for patients and their families. Our guests explain what blood cancer is, how inherited factors can increase risk, and why mult
What is informed consent?
In this explainer episode, we’ve asked Réka Novotta, Research Ethics Operations Manager at Genomics England, to explain what informed consent is.
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, let us know on podcast@genomicsengla
What Does the Diagnostic Odyssey Really Mean for Families?
In this special episode, recorded live at the 2025 Genomics England Research Summit, host Adam Clatworthy is joined by parents, clinicians and researchers to explore the long, uncertain and often emotional journey to a genetic diagnosis. Together, they go behind the science to share what it means to live with uncertainty, how results like variants of uncertain significance (VUS) are experienced by
Reflecting on 2025 - Collaborating for the future of genomic healthcare
In this special end-of-year episode of Behind the Genes, host Sharon Jones is joined by Dr Rich Scott, Chief Executive Officer of Genomics England, to reflect on the past year at Genomics England, and to look ahead to what the future holds.
Together, they revisit standout conversations from across the year, exploring how genomics is increasingly embedded in national health strategy, from the NHS
How can genomics help us understand cancer?
In this explainer episode, we’ve asked Dr Katie Snape, principal clinician at Genomics England, cancer geneticist, and specialist in inherited cancer, to explain how genomics can help us understand cancer.
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 yo
What is a genetic counsellor?
In this explainer episode, we’ve asked Amanda Pichini, clinical director at Genomics England and genetic counsellor, to explain what a genetic counsellor is.
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, let us know on podcast@g
What is the Genomics England Research Environment?
In this explainer episode, we’ve asked Dr Emily Perry, research engagement manager at Genomics England, to explain what the Genomics England Research Environment is.
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 listen to the previous episodes mentioned in this podcast
How has a groundbreaking geno
How are families and hospitals bringing the Generation Study to life?
In this episode, we step inside the NHS to explore how the Generation Study is brought to life - from posters in waiting rooms to midwife training. We follow the journey of parents joining the study at the very start of their baby’s life, and hear from those making it happen on the ground.
Our guests reflect on the teamwork between families and hospitals, the importance of informed consent, and t
What is a clinical geneticist?
In this explainer episode, we’ve asked Dr Nour Elkhateeb, clinical fellow at Genomics England and clinical geneticist for the NHS, to explain the role of a clinical geneticist.
The previous episode mentioned in the conversation is linked below.
What is the diagnostic odyssey?
You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our
How can cross-sector collaborations drive responsible use of AI for genomic innovation?
In this episode of Behind the Genes, we explore how Artificial Intelligence (AI) is being applied in genomics through cross-sector collaborations. Genomics England and InstaDeep are working together on AI and machine learning-related projects to accelerate cancer research and drive more personalised healthcare.
Alongside these scientific advances, our guests also discuss the ethical, societal and
How do people feel about using genomic data to guide health across a lifetime?
In this episode of Behind the Genes, we explore the hopes, concerns and complex questions raised by the idea of a lifetime genome — a single genomic record used across a person’s life to guide healthcare decisions. Drawing on conversations from Genomics England’s Public Standing Group on the lifetime genome, our guests explore what it might mean for individuals, families and society to have their
How can we enable ethical and inclusive research to thrive?
In this episode of Behind the Genes, we explore how ethical preparedness can offer a more compassionate and collaborative approach to genomic medicine. Drawing on insights from the EPPiGen Project, our guests discuss how creative storytelling methods, like poetry, have helped families and professionals navigate the complex emotional, ethical and practical realities of genomics.
Our guests reflect
What can we learn from the Generation Study?
As of February 2025, the Generation Study has recruited over 3,000 participants. In this episode of Behind the Genes, we explore what we have learnt so far from running the study and how it continues to evolve in response to emerging challenges.
The conversation delves into key lessons from early recruitment, the challenges of ensuring diverse representation, and the ethical considerations surroun
Can patient collaboration shape the future of therapies for rare conditions?
Rare condition research is evolving, and patient communities are driving the breakthrough. In this special Rare Disease Day episode, we explore the challenges and opportunities shaping the future of rare condition therapies. From groundbreaking gene therapy trials to the power of patient-driven research, our guests discuss how collaboration between families, clinicians, researchers, and regulators
Can genomic research close the diagnostic gap in inherited sight loss?
In this episode, our guests explore the impact of genetic discoveries on inherited retinal dystrophies, in particular retinitis pigmentosa (RP). The discussion highlights a recent study that identified two non-coding genetic variants linked to RP, predominantly in individuals of South Asian and African ancestry.
The conversation highlights how advances in whole genome sequencing are uncovering pre
How can we unlock the potential of large-scale health datasets?
In this episode, our guests discuss the potential of large-scale health datasets to transform research and improve patient outcomes and healthcare systems. Our guests also delve into the ethical, logistical, and technical challenges that come with these programmes.
We hear how organisations such as UK Biobank, Our Future Health, and All of Us are collecting rich, diverse datasets, collaborating an
What is the diagnostic odyssey?
In this explainer episode, we’ve asked John Pullinger, Senior Bio Sample Operations Manager at Genomics England, to explain what it means to go on a diagnostic odyssey.
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, feel free to
How can parental insights transform care for rare genetic conditions?
The Genetic Rare Syndromes Observational Cohort (GenROC) study aims to improve our understanding of how rare genetic conditions affect the way children grow, their physical health and their development. Through actively involving parents as experts in their child's condition, the study seeks to gather valuable insights and ensure that family experiences shape future research and care strategies. Y
Reflecting on 2024 - A year of change and discovery
As 2024 comes to a close, we take a moment to reflect on what has been a busy year at Genomics England and in the wider genomics community. Throughout the year, guests have joined us to discuss groundbreaking research discoveries, important ethical considerations, and share their personal stories. It was also a year of transformation: we rebranded our podcast as Behind the Genes, welcomed Dr Rich
What happens when I go for whole genome sequencing?
In this explainer episode, we’ve asked Katrina Stone, Clinical Genetics Doctor, and Clinical Fellow at Genomics England, to explain what happens when you go for whole genome sequencing for a rare condition.
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 y
How can we work with patients to drive research initiatives?
In this episode, we explore the importance of patient involvement in shaping rare condition research initiatives. Our guests discuss why it’s crucial to involve individuals with lived experiences, including patients and caregivers, in setting research agendas. In doing so, this approach ensures research can be more inclusive, efficient, and impactful, addressing the issues that matter most to thos
Are genetic conditions always inherited from parents?
In this explainer episode, we’ve asked Meriel McEntagart, Clinical Geneticist in the NHS and Clinical Lead for Rare Disease Technologies at Genomics England, to explain how genetic conditions can be inherited, and other ways they may arise.
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 que
Can genetic discoveries revolutionise bowel cancer care?
In this episode, we explore findings from a groundbreaking study recently published in Nature which revealed potential targets for bowel cancer prevention and treatment. The study provides the most detailed understanding yet of bowel cancer’s genetic makeup. The research, which used data from the 100,000 Genomes Project identified over 250 genes that play a crucial role in the condition, driver ge
What does 'no primary findings' mean?
In this explainer episode, we’ve asked Adrianto Wirawan, Director of Bioinformatics Engineering at Genomics England, to explain what the term 'no primary findings' means.
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, feel free t
What do parents want to know about the Generation Study?
In this explainer episode, we’ve asked Mathilde Leblond, Senior Design Researcher for the Generation Study at Genomics England, to answer some frequently asked questions that we received from parents who we engaged with for the design of the study.
You can hear more information about Generation Study via the study's official website and in our previous podcast episodes:
How has design research sha
What happens in a clinical trial?
In this explainer episode, we’ve asked Callum Morris, Pharmaceutical Research and Development Insights Manager at Genomics England, to explain what happens in a clinical trial.
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, feel
How does X-linked inheritance work?
In this explainer episode, we’ve asked Nicole Chai, Research and Development Bioinformatician at Genomics England, to explain what X-linked inheritance is.
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, feel free to contact us on
What is a polygenic disorder?
In this explainer episode, we’ve asked Arina Puzriakova, Scientific Curator at Genomics England, to explain what a polygenic disorder is.
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, feel free to contact us on info@genomicsengl
How has design research shaped the Generation Study?
The Generation Study is a research initiative aiming to explore the use of whole genome sequencing in newborns, to screen for more than 200 rare genetic conditions. This study will recruit 100,000 babies across England, and you can learn more about the Generation Study via the study's official website.
Design research has played a vital role in shaping the Generation Study. Parents, NHS staff, and
Which healthcare professionals are involved in my genomic healthcare journey?
In this explainer episode, we’ve asked Amanda Pichini, Clinical Director at Genomics England and Genetic Counsellor, to explain which healthcare professionals you may come into contact with in your genomic healthcare journey.
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
How can we ensure equitable access to genomic medicine?
Digital consent models, language barriers, and cultural differences are just a few factors that can exclude people from participating in genomic research. In this episode, our guests discuss these issues, and explore alternative methods such as in-person discussions and the use of trusted community figures to engage with their communities to increase awareness of genomic research. They also highli
How can organisations support those living with sickle cell?
For Sickle Cell Awareness Month, our sickle cell Patient Voice Group discuss their lived experiences with sickle cell, shedding light on how organisations need to be considerate when engaging with patients. They emphasise the need for genuine engagement and transparency from researchers, while highlighting the importance of building trust within communities that have historically been overlooked.
How can we bridge the gap between diverse communities?
In this episode of Behind the Genes, we explore the challenges diverse communities face in accessing genomic medicine. The discussion focuses on issues including language barriers, cultural differences, and socioeconomic disparities that hinder marginalised communities from accessing and benefitting from genomic medicine.
Our guests delve into successful strategies for engaging these communities i
Can genomic testing prevent adverse drug reactions?
Pharmacogenomics plays a critical role in personalised medicine, as some adverse drug reactions are genetically determined. Adverse drugs reactions (ADRs) account for 6.5% of hospital admissions in the UK, and the application of pharmacogenomics to look at an individuals response to drugs can significantly enhance patient outcomes and safety.
In this episode, our guests discuss how genomic testing
How has a groundbreaking genomic discovery impacted thousands worldwide?
In this episode, we delve into the impact of the new groundbreaking research uncovering the RNU4-2 genetic variant linked to neurodevelopmental conditions. The discovery, made possible through whole genome sequencing, highlights a genetic change in the RNU4-2 gene that affects about 1 in 200 undiagnosed children with neurodevelopmental conditions, making it more prevalent than previously thought.
How can we work in partnership towards a new era of genomic medicine and research?
Genomics has changed considerably over the past 10 years, and we are now exploring how to integrate it into routine healthcare. In this episode, our guests reflect on this evolution and discuss how the key learnings from the past 10 years can shape the genomics ecosystem of the future. They highlight the importance of partnership across teams, organisations and participants, emphasising the import
How do pharmaceutical companies use genomic data for drug discovery?
In this explainer episode, we’ve asked James Duboff, Strategic Partnerships Director at Genomics England, to explain how genomic data can be used in drug discovery.
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, feel free to cont
Why do we need to consider ethics in genomic healthcare and research?
Ethical considerations are essential in genomic medicine and clinical practice. In this episode, our guests dive into the details of ethical principles, highlighting how they can be brought into practice in the clinic, whilst considering the experiences and feelings of patients and participants.
Our host, Dr Natalie Banner, Director of Ethics at Genomics England, speaks to Professor Sir Jonathan M
What is personalised medicine?
In this explainer episode, we’ve asked Professor Matt Brown, Chief Scientific Officer at Genomics England, to explain what personalised medicine is and how it could change the way we treat genetic conditions and cancer.
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 o
What is 'ethics'?
In this explainer episode, we’ve asked Will Navaie, Head of Ethics Operations at Genomics England, to explain what ethics is and why it's important, in the context of genomics.
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, feel
Why is diversity important in genomics research?
In this explainer episode, we’ve asked Marie Nugent, Community Manager for the Diverse Data Initiative at Genomics England, to explain what diversity is and why it's important, in the context of genomics.
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
What is genetic or genomic testing?
In this explainer episode, we’ve asked Ellen Thomas, Interim Chief Medical Officer at Genomics England, to explain what genetic and genomic tests are, why someone might do a test, and how they are performed, 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,
Shining a light on rare conditions
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
What is the difference between DNA and RNA?
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, f
Hope for those with "no primary findings"
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 "n
What is a variant of uncertain significance?
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 li
Treating Mila - Lessons for those living with rare conditions
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
What is the Generation Study?
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 t
Celebrating genomic breakthroughs - Insights from the Festival of Genomics
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
What is a rare condition?
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, fee
Can Artificial Intelligence accelerate the impact of genomics?
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
Providing tailored care for cancer patients through whole genome sequencing
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. O
Reflecting on 2023 - A year of podcasts and a decade of progress
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
How are genetic tests transforming cancer prevention?
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
Transforming the NHS with genomic testing
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, V
How can Genetic Counsellors improve care through research?
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
Why is diversity in Parkinson’s research so important?
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
Which conditions will we look for initially in the Generation Study?
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 for
Can genomics improve our understanding of childhood cancers?
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 c
Early Career Researchers navigating the field of genomics
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
How can we overcome bias in healthtech?
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 quest
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
Genomic newborn screening for rare diseases – a review
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
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
The journey to the Human Genome Project and beyond with Dr Francis Collins
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
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: L
How can advances in genome sequencing support patients through their sarcoma journey?
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
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-
Reaching the full potential of genomic research
In this episode, 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 potentia
Research priorities for sickle cell and genomics
For our World Sickle Cell Day episode, 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
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.doc
How can we support complex patient journeys?
In this episode, 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 specia
The impact of a genetic diagnosis on mental health
In this episode, 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
