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NHS genome sequencing to help innovative cancer care, UK study finds

Published: 17th January 2024
A female scientist in a laboratory, looking through a microscope.

Genetic profiling can help deliver improved treatments for common cancer tumours, a landmark study has found.

The Cancer Programme of the 100,000 Genomes Project, led by the government-owned Genomics England in collaboration with the NHS, provided whole genome sequencing (WGS) for patients with cancer, evaluating opportunities for precision cancer care.

The study included more than 13,000 participants with cancer, linking clinical data and genomics to tailor care.

The results of the study published in the Journal of Nature Medicine, demonstrated that common cancers including brain, bowel, and lung exhibited genetic changes that could impact treatment and surgery decisions.

Genetic variants were found in most brain tumours – for instance, small variants were present in 94% of cases in glioblastoma multiforme.

The study also found the highest occurrence of actionable structural variants in 13% of sarcomas.

Similarly, for a percentage of patients with ovarian cancer, BRCA1 and BRCA2 genes were detected – highlighting the benefit of familial testing.

Dr Alona Sosinsky, Genomics England scientific director cancer, said:

“The 100,000 Genomes Project paved the way for delivering whole-genome sequencing in cancer”.

“This technology opens tremendous opportunities for precision oncology.”

Dr Nirupa Murugaesu, Consultant in Medical Oncology, said it was “an important milestone in genomic medicine”.

“We are starting to realise the promise of precision oncology that was envisioned 10 years ago, when the 100,000 Genomes Project was launched”.

“We are showing how cancer genomics can be incorporated into mainstream cancer care across a national health system – and the benefits that can bring patients.”

“By collecting long-term clinical data alongside genomic data, the study has created a first-of-its-kind resource for clinicians to better predict outcomes and tailor treatments, which will allow them to inform, prepare, and manage the expectations of patients more effectively.”

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