A new landmark UK study has shown that combining whole-genome sequencing (WGS) and real-world clinical data at a national scale can help deliver personalised cancer therapy.
Published in Nature Medicine, the largest of its kind national trial combined data from the UK’s 100,000 Genomes Project and NHS records to further understand cancer and help researchers develop new treatments.
In a single test, WGS allows researchers to read someone’s entire genome – 3.2 billion letters which make up human DNA.
More specifically, WGS is used for patients with cancer to compare DNA from their tumour to the DNA in their health tissues.
Researchers from Genomics England, NHS England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust and the University of Westminster analysed the data of over 30 kinds of solid tumours, collected from over 13,000 patients with cancer over five years, as part of the 100,000 Genomes Project.
Scientists were able to identify specific genetic changes in cancer associated with better or worse survival rates and improved patient outcomes.
The findings showed that WGS provided a comprehensive view of a tumour’s genetic landscape by detecting various genetic changes in a single test.
Across different cancer types, researchers found that more than 90% of brain tumours and over 50% of colon and lung cancers showed genetic changes, which could affect how patients are treated and guided on decisions relating to surgery or specific treatments.
Furthermore, over 10% of sarcomas had larger DNA changes, otherwise known as structural variants, which could impact clinical care and treatment, and more than 10% of ovarian cancers had inherited risks, which offered crucial insights for clinical care.
Additionally, the study revealed patterns across several cancers as well as different uncovered types of genetic changes, which could explain responses to treatment or predict patient outcomes.
Dr Nirupa Murugaesu, principle clinician, cancer genomic and clinical studies, Genomics England, oncology consultant and cancer genomics lead, Guy’s and St Thomas’ NHS Foundation Trust, said: “Collecting long-term clinical data alongside genomic data… has created a first-of-its-kind resource for clinicians to better predict outcomes and tailor treatments… to inform, prepare and manage the expectations of patients more effectively.”