Genomic test enhances pediatric cancer care

Routine whole genome sequencing benefits children with suspected cancer.

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Whole genome sequencing (WGS) has improved care for some children with cancer in England by helping doctors personalize treatment. A new study supports offering WGS to all children with cancer, showing it can improve care more than current tests.

The study, published in Nature Medicine, is the first to assess WGS in the NHS. Led by researchers from the University of Cambridge and other institutions, it analyzed WGS use at Cambridge University Hospitals and Great Ormond Street Hospital.

Results showed that WGS provided new insights that improved care for 7% of children while offering all the benefits of current tests. This highlights the potential of genomic data to revolutionize healthcare and provide better, individualized care for children with cancer.

Genome sequencing helped doctors better understand tumors in 29% of cases, revealing unexpected mutations that increase cancer risk and leading to preventive measures like regular screening.

Overall, whole genome sequencing (WGS) gives valuable data on childhood cancer and can reduce the number of tests needed. Researchers recommend it for all children with cancer.

WGS is a single test that reads the entire genetic code of a tumor and finds all cancer-causing mutations. Traditional tests only look at small parts of the cancer genome, requiring many tests per child.

Professor Sam Behjati from the Wellcome Sanger Institute, Cambridge University Hospitals, and the University of Cambridge said, “Whole genome sequencing (WGS) is the best and most comprehensive view of cancer. It has moved from a research tool to a clinical test I can offer patients, showcasing the genomic data revolution in healthcare.”

NHS England is one of the few health services globally offering universal genome sequencing to all children with suspected cancer through the Genomic Medicine Service. However, due to barriers and a lack of real-time evidence, WGS has yet to be widely used.

A recent study analyzed 281 children with suspected cancer, assessing how WGS impacted their care. Researchers found that whole genome sequencing (WGS) improved care for 20 children (7% of cases) by providing unique information not available from standard tests.

WGS also replicated all 738 standard tests used in the study’s 281 cases, suggesting it could replace multiple tests if proven cost-effective. WGS gives detailed insights into rare cancers, revealing new cancer variants. This helps doctors provide better care for individual patients and builds a shared genomic resource for research into new treatments and prevention strategies.

Dr. Jack Bartram from Great Ormond Street Hospital said, “Childhood cancer treatment relies on genetic information. Our research shows WGS offers significant benefits over existing tests, supporting its use in routine care for all children with suspected cancer.”

Journal reference:

  1. Hodder, A., Leiter, S.M., Kennedy, J. et al. Benefits for children with suspected cancer from routine whole-genome sequencing. Nature Medicine. DOI: 10.1038/s41591-024-03056-w.

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