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Whole genomic sequence and real-world clinical data linked together can help cancer diagnosis and treatment to be tailored to the individual patient, a new study has found.
The research, published in Nature Medicine, shows the value of data from the ground-breaking 100,000 Genomes Project to improve understanding of cancer and help researchers to develop new treatments. It can also help identify cancer genes that affect prognosis and advance the understanding of how cancer genomics impacts patient outcomes.
The largest study of its kind was led by Genomics England, NHS England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust and the University of Westminster.
It analysed data covering over 30 types of solid tumours collected from more than 13,000 participants with cancer in the 100,000 Genomes Project. By looking at the genomic data alongside routine clinical data collected from participants over a 5-year period, such as hospital visits and the type of treatment they received, scientists were able to find specific genetic changes in the cancer associated with better or worse survival rates and improved patient outcomes.
The study showed that whole genomic sequence could provide a more comprehensive view of a tumour’s genetic landscape by detecting various genetic changes using a single test. This research uncovered significant findings across different cancer types, such as:
- Over 90% of brain tumours and over 50% of colon and lung cancers showed genetic changes that could affect how patients are treated, guiding decisions about surgery or specific treatments they might need.
In more than 10% of sarcomas, larger DNA changes, known as structural variants, were identified that can impact clinical care and treatment.
In over 10% of ovarian cancers, the study pinpointed inherited risks offering crucial insights for clinical care.
Study is an important milestone in genomic medicine
Dr Nirupa Murugaesu, Principal Clinician – Cancer Genomics and Clinical Studies at Genomics England, Oncology Consultant and Cancer Genomics Lead at Guy’s and St Thomas’ NHS Foundation Trust said: “This study is an important milestone in genomic medicine. We are starting to realise the promise of precision oncology that was envisioned ten years ago when the 100,000 Genomes Project was launched.
“We are showing how cancer genomics can be incorporated into mainstream cancer care across a national health system and the benefits that can bring patients. By collecting long-term clinical data alongside genomic data, the study has created a first-of-its-kind resource for clinicians to better predict outcomes and tailor treatments, which will allow them to inform, prepare, and manage the expectations of patients more effectively.”
The analysis also revealed patterns across several cancers and uncovered different types of genetic changes that might explain response to treatment or predict possible patient outcomes. Together, the findings show the value of combining genomic and clinical data at scale to help healthcare professionals make the best treatment decisions with their patients.
The 100,000 Genomes Project laid the foundations for the NHS to become the first national health system to offer WGS as part of routine care via the NHS Genomic Medicine Service. This study shows the value of investment in national infrastructure to generate clinical and genomic data at scale on patients and participants who consent to research in an NHS setting – allowing researchers to uncover insights to drive improved diagnosis, care and treatment for patients with cancer.
Helen White, Participant Panel Vice Chair for Cancer at Genomics England added: “This study has opened doors to better ways of diagnosing and treating cancer, but was only made possible by all those who, despite the challenges of a cancer diagnosis, gave their consent for their or their loved one’s genomic and health data to be used in the 100,000 Genomes Project. Their invaluable contribution has made these advances possible, bringing hope to people affected by cancer of living well for longer.”