A large-scale study led by Genomics England, NHS England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust, and the University of Westminster has provided compelling evidence for the use of whole genome sequencing (WGS) in standard cancer care. The study, published in Nature Medicine, demonstrates how combining health data with WGS data can enable doctors to offer more personalized and tailored care to patients.
The research analyzed data from over 13,000 participants with cancer in the 100,000 Genomes Project, encompassing more than 30 types of solid tumors. By integrating genomic data with routine clinical information such as hospital visits and treatment history, scientists were able to identify specific genetic changes in cancer DNA that are associated with improved patient outcomes and better survival rates. The findings highlight the potential of merging genomic and clinical data on a large scale to assist healthcare professionals in making informed treatment decisions.
Whole genome sequencing involves reading an individual’s entire genome—3.2 billion letters of DNA—with a single test. In cancer patients, this technique allows for a comparison of DNA from tumors and healthy tissues, enabling a deeper understanding of the genetic alterations driving the disease.
The 100,000 Genomes Project, which paved the way for the integration of WGS into routine care, has positioned the NHS as the first national health system to offer genomic sequencing through the NHS Genomic Medicine Service. This study demonstrates the benefits of investing in national infrastructure to generate clinical and genomic data, creating a valuable resource for researchers and clinicians to drive improved diagnosis, care, and treatment for cancer patients.
Dr. Nirupa Murugaesu, Principal Clinician, Cancer Genomics and Clinical Studies at Genomics England and Oncology Consultant at Guy’s and St Thomas’ NHS Foundation Trust, describes the study as an important milestone in genomic medicine, realizing the promise of precision oncology envisioned a decade ago with the launch of the 100,000 Genomes Project. By combining long-term clinical data with genomic data, the study provides clinicians with a unique resource to predict outcomes and customize treatments, leading to more effective patient management.
Professor Sir Mark Caulfield, VP Health at Queen Mary University of London, emphasizes how this study can transform cancer care by shifting from a one-size-fits-all approach to precision healthcare. The identification of specific genomic signatures that predict treatment response and outcomes paves the way for the expanded use of whole genomes in cancer care.
Dr. Alona Sosinsky, Scientific Director for Cancer at Genomics England, highlights the transformative potential of whole genome sequencing in cancer care and the opportunities it presents for precision oncology. The comprehensive dataset generated by the 100,000 Genomes Project, combined with centrally collected clinical data, provides a rich resource for basic and translational research.
Helen White, Participant Panel Vice Chair for Cancer at Genomics England, acknowledges the contributions of patients and their loved ones who consented to the use of their genomic and health data in the 100,000 Genomes Project. Their invaluable participation has made these advances possible and brings hope to individuals affected by cancer, offering the prospect of improved quality of life.
Professor Dame Sue Hill, Chief Scientific Officer for NHS England and Senior Responsible Officer for Genomics, highlights how the study’s insights, mapping genomic patterns in thousands of patients with different types of cancer, support the NHS Genomic Medicine Service in providing a comprehensive testing service for cancer patients. This research signals a promising future for healthcare as the use of genomics becomes more refined and interventions are tailored for better outcomes.
Andrew Stephenson, Health Minister, recognizes the groundbreaking nature of this research, which demonstrates the power of genomics in transforming care and enabling tailored treatment for cancer patients. The aim is to harness this innovation to further improve patient care and strengthen the position of the UK as a leader in the life sciences industry, ultimately leading to faster and more targeted interventions.