Genomics England

The Generation Study is a ground-breaking research study in partnership with the NHS which will sequence the whole genomes of up to 100,000 newborn babies and look for 200+ rare conditions in early childhood. Find out more: ow.ly/RVuJ50TBVQf @DHSCgovuk @NHSEngland

We’re proud to support the 10 Year Health Plan’s ambitions to make genomics part of routine care, developing our digital systems and generating evidence through research programmes like the Generation Study. Read more: ow.ly/sl1Q50WkZcK

Sarcoma is a rare cancer that can affect the bones or soft tissue. Genomic research is helping improve understanding and diagnosis. This Sarcoma Awareness Month we will be sharing content to help raise awareness. For more, visit: sarcoma.org.uk #SarcomaAwarenessMonth

Adam Clatworthy and Kirsty Irvine, leaders of the Participant Panel for Genomics England, share the Panel's vision for shaping a future in genomics where participants are heard, valued, and at the heart of progress, linked below. ow.ly/g3tY50WfkMW

New research led by Genomics England sets out a framework for using genomic newborn screening to help identify rare conditions early. This approach is already being used in the Generation Study. Read more: ow.ly/NjTU50Wuw7m

Around 8 years after joining the 100,000 Genomes Project, Maria received a phone call telling her a diagnosis had been found for her son, Noah. RNU5B-1-related disorder is a recently discovered neurodevelopmental condition. Read Noah's story: ow.ly/s3yJ50WuvtT

Parents, NHS staff, and the public have been involved in the Generation Study from the start, providing input through public dialogues and usability testing to guide the development of the study. Listen to our guests discuss how, in this episode: ow.ly/Txqz50WtZrS

Sarcoma is a type of cancer that can appear anywhere in the body. Last year we reported on research that showed that whole genome sequencing is invaluable for diagnosis and treatment of the condition. Read more: genomicsengland.co.uk/news/whole-gen… #SarcomaAwarenessMonth

Hear from world-leading experts on the latest advances in newborn sequencing at the 2025 International Consortium on Newborn Sequencing (ICoNS) annual meeting, taking place on 23-24 October in London and virtually. Register now: iconseq.org/icons-25

"It would be a privilege to help translate this research into routine care, bringing the benefits of early genomic screening to all families across England" Dr Meekai To shares her experience as Principal Clinician for the Generation Study, read below: ow.ly/GvTZ50WpIsm

Today, the government launched the Life Sciences Sector Plan - a 10-year mission to harness British science and innovation for economic growth and a stronger, prevention-focused NHS. We are proud to help make this vision a reality. Read more: gov.uk/government/new…

A selection of talks from the Genomics England Research Summit 2025 are now available to watch on YouTube, a chance to revisit key discussions and insights from the day. Watch here: ow.ly/thwq50Wpf8w #GERS2025

For Sarcoma Awareness Month, we’re revisiting a blog from our archives that uncovered a key genomic driver of aggressive bone cancer, offering new insights that could support future treatment strategies. Read the blog: genomicsengland.co.uk/blog/researche… #SarcomaAwarenessMonth

Last month, we hosted our annual Research Summit in London. Take a look at the video below to see our highlights from the day, and stay tuned as we will be sharing early details about the 2026 Research Summit soon! #GERS2025

As part of Sarcoma Awareness Month, we’re revisiting this episode of our podcast where Lizzie shared her husband Stevie’s sarcoma journey, and how advances in genome sequencing supported them along the way. Listen here: ow.ly/NNS350WltjC #SarcomaAwarenessMonth

New research, using data from the National Genomic Research Library, has uncovered rare genetic changes that could explain previously unsolved cases of Marfan syndrome. Read more: ow.ly/C9x350Wmaw7

The Generation Study is a research study that is sequencing the genomes of 100,000 newborn babies, with parental consent. It aims to identify treatable rare conditions earlier, to help allow for more timely intervention and treatment. Learn more: ow.ly/KqJ950WkhNA

The government’s strong support for genomic healthcare in the 10 Year Health Plan is a vote of confidence in the power of genomics to transform lives. We are excited about the role we will play in bringing this to life. Read the 10 Year Health Plan here: gov.uk/government/pub…

New research has uncovered 2 neurodevelopmental disorders using data from the National Genomic Research Library. These findings have led to new diagnoses for patients and families, opening doors for potential treatments 🧬 Read the blog to learn more: ow.ly/4h0B50WiRkY

Last week we hosted our annual Research Summit in London, bringing together researchers, participants, clinicians & partners to explore the future of genomics in healthcare. Catch up on the highlights and key themes from the day: ow.ly/4lP750WgQvq #GERS2025

The Yellow Card Biobank, launched by the Medicines and Healthcare products Regulatory Agency (MHRA) and Genomics England, will start investigating genetic risk of acute pancreatitis from GLP-1 medicines, such as Ozempic and Mounjaro. Read more: ow.ly/wWHB50WgMSR @MHRAgovuk