Genomics England

24/09/2025

In the latest episode of Behind the Genes, discover how the Generation Study is brought to life in NHS hospitals. From staff training and supporting families through the consent process, to sample collection, the episode follows both the parent journey from the very start of their baby’s life and the hospital teams’ delivering the study.

The episode highlights the teamwork involved, how parents are supported throughout, and the care taken to ensure ethical and informed participation.

Tune in to hear how hospitals and families are working together to bring the Generation Study to life: https://ow.ly/Gmcp50X1kXw

23/09/2025

Our research seminar this month will focus on the Generation Study, a landmark UK initiative exploring the feasibility, impact, and ethics of using whole-genome sequencing in newborn screening.

Tuesday 30 September, 14:00 - 15:00. Our seminars are open to everyone and free to attend.

Register for free:

Genomics England's monthly, free-to-attend talks presented by Research Network members on the latest research.

22/09/2025

"Our ambition is to give everyone the chance to benefit from genomic medicine, not just those currently able to receive a diagnosis or treatment.”

Read our Generation Study article online and in today’s copy of the Guardian: https://ow.ly/UBHu50X046h

Mediaplanet

A study led by Genomics England in partnership with NHS England is looking to understand whether we can improve the ability to diagnose and treat genetic conditions from birth.

18/09/2025

In our blog, "Are genetic conditions always inherited from parents?” we explain:

- what it means when a condition is dominant or recessive
- why some people carry genetic changes without getting symptoms (reduced penetrance)
- how new (“de novo”) genetic changes can happen, meaning the condition wasn’t inherited from either parent

We also touch on how whole genome sequencing can help detect genetic changes that other tests might miss.

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 answer the question: Are…

12/09/2025

We are delighted to announce the appointment of Dr Natalie Banner as our Chief Ethics and Engagement Officer.

Natalie joined Genomics England in 2022 as Director of Ethics, bringing a decade of experience in navigating ethical, regulatory and governance challenges in the use of genomic and health data, and data-driven technologies. She previously led Understanding Patient Data at the Wellcome Trust, where she pioneered accessible communications and community engagement strategies to foster public trust in health data initiatives. She is also a member of the National Data Guardian’s Panel.

In her new role, Natalie will be responsible for embedding ethics and equitable approaches across Genomics England’s programmes and ways of working. This reflects the central importance of ethics, equity and public engagement to Genomics England’s work - ensuring the organisation remains a trustworthy steward of participants’ data and so that as genomics becomes part of everyday healthcare, it does so in step with public views and the benefits are felt equitably.

Read more:

Find the contact, social media, service desk, and other important information for Genomics England.

11/09/2025

Participants are at the heart of what we do at Genomics England.

Our participant stories share personal experiences of genomic testing, how it impacted their lives, what getting a diagnosis meant (and how not getting one still shaped their journey), and the broader hope it brings.

Explore their stories on our website: https://www.genomicsengland.co.uk/patients-participants/stories

10/09/2025

Clinical geneticists are medical doctors who specialise in the field of genetics. They work face-to-face with patients and families to provide diagnoses and support for those affected by genetic conditions.

In the latest podcast episode, Dr Nour Elkhateeb talks through his role as a clinical geneticist for the NHS, in less than 10 minutes.

Listen to the episode here: https://ow.ly/rK4u50WUnAO

04/09/2025

What is the Generation Study?

You may have heard about the study in some of our posts, in the media, or at your local NHS hospital.

This ground-breaking research study aims to sequence the genomes of 100,000 newborn babies, with the consent of their parents, to look for 200+ rare conditions which usually appear in early childhood.

You can find out more about the Generation Study in previous blogs and podcasts, as well as on the study’s website: https://www.generationstudy.co.uk/

27/08/2025

We are back with a new episode of Behind the Genes!

In this episode, we explore how collaborations between AI experts and genomics researchers are helping to advance cancer research.

Our guests also talk about the ethical and social challenges associated with these technologies, touching on topics such as data privacy, creating fair and inclusive tools and using AI responsibly.

It’s a conversation about how science and technology can make a real difference in people’s lives while keeping patient and participants’ interests at the heart of innovation.

Tune in via this link or on your favourite podcast app: https://ow.ly/gWRz50WMGnp

26/08/2025

📣 Have you or someone you know experienced acute pancreatitis when taking GLP-1 medicine for weight loss or T2 diabetes?

We’re asking patients who have been diagnosed with acute pancreatitis (inflamed pancreas) whilst taking a GLP-1 medicine, such as Ozempic, Wegovy, or Mounjaro, to report a Yellow Card ➡️https://bit.ly/4l6Ctei

This can be a recent diagnosis or in the past. Yellow Cards can also be reported on behalf of people that you care for.

The Yellow Card Biobank is investigating whether the risk of acute pancreatitis from GLP-1 injections for weight loss and Type 2 diabetes may be influenced by an individual’s genes.

When a Yellow Card report is received, the MHRA will review it and contact eligible patients to ask if they would be willing to take part in the Biobank study.

Patients who sign-up to join the study will receive a saliva testing kit in the post. The kit is quick and easy to use and instructions will be provided, along with a prepaid envelope to post it.

Information collected about patients will be de-identified before approved researchers can access it in a secure research environment, so individuals cannot be identified.

Find out more ➡️ https://bit.ly/4l6Ctei

22/08/2025

You may see the term National Genomic Research Library (NGRL) in some of our posts, and wonder what it actually is.

The NGRL is one of the largest resources of its kind anywhere in the world. It securely brings together de-identified genomic data with health records, generously donated by participants.

By making this data available to approved researchers, the NGRL is helping to drive discoveries that improve our understanding of rare conditions and cancer, with the potential to lead to faster diagnoses, more personalised treatments, and ultimately, better outcomes for patients and families.

Read more about the NGRL: https://www.genomicsengland.co.uk/blog/genomics-101-what-is-the-national-genomic-research-library

14/08/2025

Dr Meekai To, Principal Clinician for Maternal and Child Health here at Genomics England, provides clinical leadership and specific expertise for the Generation Study. Her work is focused on delivery and implementation and she works closely with NHS sites that are recruiting families.

Read more about her role in her blog:

A clinician is a healthcare professional who provides direct care to patients, usually in clinical settings such as hospitals. In this blog, Meekai To…