Study suggests linking whole genome sequencing and clinical data could help personalise cancer care

A team of researchers have identified the benefits of linking whole genome sequencing data to real-world clinical data, to identify changes in cancer DNA that “may be relevant for an individual patient’s care”, potentially helping in the delivery of precision cancer care.

The study, published in Nature Medicine, saw analysis of data from over 30 types of solid tumour, collected from more than 13,000 patients, with scientists examining genomic data alongside routine clinical data that had been collected from participants over a five-year period. NHS East Genomics reports that they “were able to find specific genetic changes in the cancer associated with better or worse survival rates and improved patient outcomes”, with the results suggesting that whole genome sequencing data could “provide a more comprehensive view of a tumour’s genetic landscape by detecting various genetic changes using a single test”.

Particular findings from the research include that over 90 percent of brain tumours and 50 percent of colon and lung  cancers showed genetic changes that could affect a patient’s treatment; that larger DNA changes known as structural variants were identified in more than 10 percent of sarcomas; and that inherited risks could be “pinpointed” in over 10 percent of ovarian cancers.

Additionally, the study “revealed patterns” across a number of cancers and identified different types of genetic change that could help explain a patient’s response to treatment, and potentially help predict possible patient outcomes.

Dr Nirupa Murugaesu, principal clinician for cancer Genomics and clinical studies at Genomics England and oncology consultant and cancer genomics lead at Guy’s and St Thomas’ NHS Foundation Trust, calls the study an “important milestone in genomic medicine” and adds: “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 study was led by Genomics England, NHS England, Queen Mary University of London and the University of Westminster; read more about it here.

Last year, NHS England shared an update in work around genomics, stating that the NHS Genomic Networks of Excellence would play a “key role” in bringing together the NHS Genomic Medicine Service, National Institute for Health and Care Research, Biomedical Research Centres, Academic Health Science Networks and other partners with a view to accelerate genomics research.

Research publication: ‘Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme’ Sosinsky et al. Nature Medicine. DOI: 10.1038/s41591-023-02682-0