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Genomic Medicine Triumph: Real-world Impact of Whole Genome Sequencing on Cancer Outcomes

NextEdge Admin

20 Dec 2023

2 min 55 sec

In a landmark study, scientists have reported the groundbreaking integration of health data and whole genome sequencing (WGS) in cancer patients, enabling more personalized care. Published in Nature Medicine, the research, spearheaded by Genomics England, NHS England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust, and the University of Westminster, examined data from over 13,000 participants with cancer in the 100,000 Genomes Project. By merging WGS data with real-world clinical information collected over five years, including hospital visits and treatment details, the study identified specific genetic changes in cancer DNA influencing survival rates and patient outcomes.

The study highlighted WGS’s ability to offer a comprehensive view of a tumor’s genetic landscape through a single test. Key findings across various cancer types included genetic changes in over 90% of brain tumors and over 50% of colon and lung cancers, guiding decisions on treatments and surgeries. Structural variants in more than 10% of sarcomas were identified, impacting clinical care, and over 10% of ovarian cancers revealed inherited risks crucial for clinical insights. Patterns and different genetic changes were uncovered, providing valuable information for predicting treatment response and patient outcomes.

WGS, capable of reading an individual’s entire genome, allowed for the comparison of DNA from cancerous tumors to healthy tissues. The 100,000 Genomes Project laid the groundwork for the NHS to pioneer WGS as part of routine care through the NHS Genomic Medicine Service. The study underscores the significance of national infrastructure investment in generating clinical and genomic data at scale, offering insights to enhance diagnosis, care, and treatment for cancer patients within the NHS setting. The findings demonstrate the transformative potential of combining genomic and clinical data at scale, empowering healthcare professionals to make informed treatment decisions for their patients.