UK study shows genome sequencing can improve multiple aspects of cancer treatment

Using whole genome sequencing and clinical data aids the delivery of personalised cancer care, a landmark study shows.

Genomics England, alongside NHS England, Queen Mary University of London, Guy's and St Thomas' NHS Foundation Trust and the University of Westminster, used genomic data from the 100,000 Genomes project and real-world clinical data to help provide a more tailored approach to patient cancer care. Using the details of an illness and combining this with information about a patient's unique genetic makeup can help healthcare providers choose the best course of treatment for each of their 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,' said Dr Nirupa Murugaesu, principal clinician and consultant in medical oncology at Guy's and St Thomas' NHS Foundation Trust.

Whole genome sequencing allows scientists to read the entire 3.2 billion letters that make up an individual's DNA in a single test. The study used this technique to compare DNA from healthy tissue to tissue from a tumour. Through this, scientists could identify genetic changes in the cancer that affected survival rates and prognosis.

The study, published in Nature Medicine, demonstrated a more detailed view of a tumour's genetic landscape by finding genetic changes in the DNA sequence. By analysing 13,880 solid tumours, which covered 33 cancer types, they found over 90 percent of brain tumours and over 50 percent of lung and colon cancers showed genetic changes that could potentially affect patient treatment. These effects, in turn, could influence further patient care decisions like surgeries or other specific treatments a patient may need. Additionally, more than ten percent of ovarian cancers are associated with inherited gene variants, providing further insight into the clinical care of this cancer.

'This research shows us, at a tremendous scale, just how important the detection of genetic changes in a cancer is for determining patient outcomes, and for determining which treatments will work for an individual patient,' added Trevor Graham, professor of genomics and evolution at the Institute of Cancer Research, London.

Over the last ten years, the amount of cancer incidents in the UK has increased by approximately four percent, demonstrating the need for molecular cancer testing. The findings from the study further solidify the potential for these data to provide prognostic insights based on the presence or absence of mutations, allowing a more tailored approach to patient care.

'This ground-breaking research demonstrates the power of genomics and is already helping to transform care, allowing patients to receive more tailored treatment and driving improved diagnosis. But we won't stop there. We want to harness this innovation to improve care for patients and affirm our position as a life sciences superpower – leading to quicker and more targeted interventions,' Andrew Stephenson, Minister for Health and Secondary Care, said.