"The capability to accurately detect structural variants is transformative for clinical diagnostics," said Adrienne Flanagan, Professor at UCL and Consultant Histopathologist at RNOH. "SAVANA could help us confidently identify genomic alterations relevant for diagnosis and prognosis. Ultimately, this means we would be better placed to deliver personalised treatments for cancer patients."
Supporting the UK’s Genomic Vision
The development of SAVANA aligns with a broader national effort in the United Kingdom to integrate advanced genomics into the heart of the healthcare system. Through the NHS Genomic Medicine Service, the UK has become the first country in the world to offer whole-genome sequencing as a routine part of clinical care. This initiative aims to move away from a "one-size-fits-all" approach to medicine, instead using a patient’s unique genetic code to guide their treatment.
However, the success of such an ambitious program depends entirely on the accuracy of the data interpretation. As the NHS and Genomics England explore the potential of long-read sequencing to support earlier and faster cancer diagnoses, tools like SAVANA become indispensable.
"Using SAVANA will ensure clinicians receive accurate and reliable genomic data, enabling them to confidently integrate advanced genomic sequencing methods such as long-read sequencing into routine patient care," said Greg Elgar, Director of Sequencing R&D at Genomics England.
The impact of SAVANA is already being felt across several major initiatives. It is currently being deployed as part of the UK Stratified Medicine Paediatrics project. Funded by Cancer Research UK and Children With Cancer UK, and co-led by Cortes-Ciriano, this project seeks to develop more effective and less toxic treatments for childhood cancers. By using SAVANA to better understand the biology of pediatric tumors and monitor for disease recurrence, researchers hope to improve survival rates and long-term quality of life for young patients.
Furthermore, SAVANA is playing a key role in the SAMBAI project (Societal, Ancestry, Molecular and Biological Analyses of Inequalities). This initiative, funded by Cancer Grand Challenges, is dedicated to addressing the stark disparities in cancer outcomes observed in populations of recent African heritage. By applying high-resolution genomic analysis to diverse populations, the project aims to uncover the biological and environmental factors that contribute to these inequalities, ensuring that the benefits of the genomic revolution are shared by all.
As long-read sequencing technology continues to mature, the role of specialized analytical tools like SAVANA will only grow in importance. By turning raw genetic data into actionable clinical insights, SAVANA is helping to pave the way for a future where cancer treatment is more precise, more effective, and more personalized than ever before.
