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Landmark UK study supports use of whole genome sequencing in standard cancer care



Combining health data with whole genome sequence (WGS) data in patients with cancer can help doctors provide more tailored care for their patients, a new study has revealed.

The research, published today in the journal Nature Medicine, shows that linking WGS data to real-world clinical data can identify changes in cancer DNA that may be relevant for an individual patient’s care, for example by helping identify what treatment might work best for them based on their cancer.

The research, led by Genomics England, NHS England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust and the University of Westminster, 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 five-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 found that WGS could provide a more comprehensive view of a tumour’s genetic landscape by detecting various genetic changes using a single test.

Professor Dame Sue Hill is Chief Scientific Officer for NHS England and Senior Responsible Officer for Genomics.

She said: “With this new study, data from the 100,000 Genomes Project continues to build the evidence for the use of genomic testing to deliver precise molecular diagnoses to inform personalised treatments and interventions for patients.

“The insights gained in this study, in which genomic patterns or profiles have been mapped out in thousands of patients with different types of cancer, support and inform the NHS Genomic Medicine Service in providing a comprehensive genomic testing service for patients with cancer and signals a promising future for healthcare as we continue to hone and enhance the NHS use of genomics and tailor interventions for improved outcomes.”

This research uncovered significant findings across different cancer types, including:

  • Over 90 per cent of brain tumours and over 50 per cent 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 per cent of sarcomas, larger DNA changes, known as structural variants, were identified that can impact clinical care and treatment.
  • In over 10 per cent of ovarian cancers, the study pinpointed inherited risks offering crucial insights for clinical care.

The research 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, these findings show the value of combining genomic and clinical data at scale to help healthcare professionals make the best treatment decisions with their patients.

WGS enables scientists to read someone’s entire genome with just one single test.

For patients with cancer, the technique can be used to compare DNA from their tumour to the DNA in their healthy tissues.

The 100,000 Genomes Project laid the foundations for the NHS to become the first national health system to provide WGS as part of routine care via the NHS Genomic Medicine Service.

Andrew Stephenson, Health Minister, said: “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.”

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