Scientist holding a DNA sample with the results on a computer screen in a laboratory
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In the largest study of its kind, scientists have shown how combining health data with whole genome sequence (WGS) data could help doctors provide cancer patients better tailored care. The study analyzed over 30 types of solid tumors collected from more than 13,000 cancer patient data from Genomics England’s 100,000 Genomes Project. By looking at this data alongside clinical information, such as hospital visits and the type of treatment patients received, scientists were able to find specific genetic changes that pointed to better treatment choices.

The study 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. Their research was published this week in Nature Medicine.

Sir Mark Caulfield, VP of health at Queen Mary University of London, said, “This study shows how we can transform cancer care from a ‘one size fits all’ approach into precision healthcare and defines specific genomic signatures that predict treatment response and outcomes, which may usher in expanded use of whole genomes for cancer care.”

According to this study, WGS could provide a more comprehensive view of a tumor’s genetic landscape. Significant findings across different cancer types included:

  • Over 90% of brain tumors 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.

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 researchers say, 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.

With the 100,000 Genomes Project, the NHS became the first national health system to offer WGS as part of routine care via the NHS Genomic Medicine Service. This study, the researchers say, supports 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.

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.” He added, “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.”

Nirupa Murugaesu, principal clinician, Cancer Genomics and Clinical Studies at Genomics England, said, “This study is an important milestone in genomic medicine. We are starting to realize the promise of precision oncology that was envisioned ten years ago when the 100,000 Genomes Project was launched.

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