Genomics England

25/11/2025

This episode of Behind the Genes offered a look inside the Generation Study, with perspectives from both a participating parent, Rachel, and the clinical team supporting families at her local hospital.

Available on all major podcast platforms, and on our website: https://ow.ly/K1OJ50X7SJg

19/11/2025

What happens when I go for whole genome sequencing?

In a previous blog, we explore potential reasons for getting whole genome sequencing, what happens when a person physically gets the test, and how it can sometimes lead to a genetic diagnosis.

Read more via this link:

Whole genome sequencing allows us look at lots of different genes with one single test. In this blog, we explain what it’s like to get whole genome…

13/11/2025

Today is Genetic Counsellor Awareness Day - a day to recognise the vital role of genetic counsellors in helping individuals and families understand the impact of a genetic diagnosis.

To mark the day, we’ve partnered with the Association of Genetic Nurses and Counsellors (AGNC) for a special blog takeover, where chair Roberta Rizzo shares insights into her work and the difference it makes for patients and families.

Read the blog: https://ow.ly/QOwN50XqnRx

12/11/2025

Tomorrow is Genetic Counsellor Awareness Day, and we're marking the occasion with a new Genomics 101 podcast episode all about the role of genetic counsellors.

Amanda Pichini, registered genetic counsellor and clinical director for Genomics England, explains the day-to-day role of genetic counsellors, how they support patients and families, and how genomic advances are impacting the field.

Listen on your favourite podcast app or via this link to our website: https://ow.ly/tmVe50Xqny3

31/10/2025

Personalised medicine involves tailoring treatments to each individual person, based on what is likely to give them the best possible outcome with the least possible side effects. We can predict which treatments an individual is likely to respond well to, according to the genetic markers they have.

If you'd like to understand more, we have both blogs and podcasts on the topic. Head to our website to browse our libraries, or listen to Behind the Genes on your favourite podcast app.

29/10/2025

Shortly after being born, Freddie was diagnosed with hereditary retinoblastoma, caused by a change in his RB1 gene. He is one of numerous children who has benefitted from being part of the Generation Study, and very shortly after his diagnosis, Freddie was able to start a mix of chemotherapy and laser treatment to treat the tumours in his eyes.

Read Freddie's story: https://ow.ly/98EO50XjfmJ

27/10/2025

People affected by rare conditions wait an average of 5.6 years to receive an accurate genetic diagnosis, a journey often called the 'diagnostic odyssey'. In a previous blog, we took a closer look at the diagnostic odyssey, touching on topics including:

- Why it is called the 'diagnostic odyssey'
- Why it can take so long to receive a diagnosis
- How the diagnostic odyssey can affect people
- The role of genetic and genomic tests

Read the full blog:

In this series, ‘Genomics 101’, we go back to basics and explore some of the most important topics in genomics. In this blog, we explain what it means to…

23/10/2025

25,000 babies have now enrolled in the Generation Study, a major milestone in one of the world’s largest research studies of its kind, which explores how whole genome sequencing could be used to screen newborns for over 200 rare genetic conditions.

Stories like Freddie’s, who was diagnosed with hereditary retinoblastoma just weeks after birth thanks to genome sequencing, show the life-changing potential of this work.

Recruitment is accelerating, with more than 50 NHS hospital sites actively enrolling families. This growing network is helping ensure the study reaches families from all corners of England.

Learn more: https://www.genomicsengland.co.uk/news/25-000-babies-join-groundbreaking-generation-study

17/10/2025

Freddie, a boy born with a rare form of eye cancer that is usually diagnosed in very young children, is one of numerous babies born with rare conditions who are receiving earlier diagnoses as a result of the Generation Study.

Four weeks after being born and having his genome sequenced, Freddie was diagnosed with hereditary retinoblastoma, a condition where early detection is crucial for preserving vision. As a result of the early diagnosis, he has been able to access faster, life changing treatment and his doctors are hopeful of being able to save Freddie’s vision.

Read the full story: https://ow.ly/Wwpi50XcTMQ

15/10/2025

What is the Genomics England Research Environment?

Emily Perry, research engagement manager at Genomics England, joins our latest Genomics 101 episode to explain how the Research Environment enables research into rare conditions and cancer.

Genomics 101's are our bitesized podcast episodes, all less than 10 minutes long, which help explain terms you may come across within genomics.

Listen on your favourite podcast app or on our website: https://ow.ly/krg950XbM8H

10/10/2025

Living with a rare condition or cancer affects more than physical health, it can have a big impact on mental wellbeing too. On World Mental Health Day, we want to acknowledge patients, participants and families who are part of the rare condition and cancer communities, and the importance of support alongside research 💚

Information and support is available for rare conditions from organisations including Rareminds, Genetic Alliance UK and SWAN UK (Syndromes Without A Name).

Information and support is available for cancer from organisations including Macmillan Cancer Support and Cancer Research UK.

08/10/2025

Watch SWAN UK's new animations, which help explain what it means to have a child affected by an undiagnosed genetic condition. Link in the post below 👇