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Decoding the entire genetic sequence of a child’s cancer is proving to be a game-changer in improving treatments. Researchers are advocating for whole genome sequencing to become standard practice in the NHS after a study showed that it provided additional information about illnesses and future treatment options for many children.

In the study, doctors analyzed the whole genome sequence of cancers in 281 children. They found that in almost a third of cases, this type of sequencing offered valuable insights that could not have been obtained through current tests. For 20 children, it even led to decisions about their care that would not have been possible without this gold standard approach.

Unlike traditional genetic testing that looks for specific mutations in the DNA of tumor or blood cells, whole genome sequencing examines all possible mutations present in cancer cells. This comprehensive approach provides a deeper understanding of the genetic features of a cancer, which is especially critical in pediatric cases. By considering all mutations and the normal genetic background of the individual, doctors can offer more personalized and effective care to children with cancer.

Researchers involved in the study, including Professor Sam Behjati from the Wellcome Sanger Institute, emphasize the importance of making whole genome sequencing available to every child diagnosed with cancer. They believe that this approach represents a significant advancement in healthcare, enabling tailored treatment plans that can lead to better outcomes.

Participating institutions like Cambridge University Hospitals Trust and Great Ormond Street Hospital have seen firsthand the benefits of whole genome sequencing. Dr. Jack Bartram from Great Ormond Street Hospital highlights the tangible advantages of this approach over existing tests, emphasizing the crucial role of genetic understanding in guiding medical practice.

The study also featured the case of Eddie Pessoa de Araujo, a child diagnosed with T-cell acute lymphoblastic leukemia at a young age. Thanks to whole genome sequencing, Eddie’s doctors could determine that his cancer would respond well to standard chemotherapy treatment. Today, Eddie is in remission, and his mother, Harri, credits whole genome sequencing with providing valuable information that guided his treatment and offered insights into future risks.

While NHS England already offers whole genome sequencing for children with cancer through its Genomic Medicine Service, the practice is not yet widespread in most hospitals. Researchers argue that making this technology more widely available would not only improve patient care but also create a valuable resource for further research in pediatric cancer genomics.

Overall, the study underscores the potential of whole genome sequencing to revolutionize cancer treatment for children and position the UK as a leader in cancer genomics research. With its ability to provide personalized care and valuable genetic insights, this approach holds great promise for improving outcomes and advancing our understanding of childhood cancers.