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Cancer patients stand to benefit from the expansion of genome sequencing of tumours that would enable the development of life-saving diagnostics and treatments, according to the word’s largest study of the technology.
The results of the study, carried out in England and published in the journal Nature Medicine on Thursday, demonstrate that some common cancers have a genetic profile that could guide decisions about patient surgery and drug therapy.
The project, led by government-owned Genomics England in collaboration with the NHS, universities and hospital trusts involved 13,880 volunteers. Scientists analysed all the DNA present in cancerous and healthy tissue in each individual, relating genetic mutations to clinical data about their treatment and disease progression.
“This study is an important milestone in genomic medicine,” said Nirupa Murugaesu of Guy’s and St Thomas’ NHS Trust, one of the project leaders. “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.”
Discovering this DNA signature of tumours requires whole genome sequencing — reading all 3.2bn letters of genetic code in their DNA — rather than carrying out a more limited panel of genetic tests, which is currently the standard diagnostic technique.
Sir Mark Caulfield, professor of clinical pharmacology at Queen Mary University of London and former chief scientist at Genomics England, said the NHS had around £44mn to spend on expanding cancer genomics, though NHS England declined to comment on its planned expenditure.
The project highlighted the UK’s role as a global pioneer in the field of genome sequencing, according to scientists.
“From an international perspective, the NHS has the only programme I’m aware of that offers whole genome sequencing across a wide variety of cancer types equitably across the population free of charge,” said Matt Brown, Genomics England chief scientist.
“This sort of set-up is not available even in other countries with large public hospital systems,” he said.
The research showed substantial variation between the types of cancer. The proportion of cases with genomic profiles useful for guiding treatment was more than 90 per cent for the most lethal brain tumours, 70 per cent for melanoma and around 50 per cent for lung and colon cancers, the research showed.
The discoveries have come from the 100,000 Genomes programme launched by the government 10 years ago, which also focused on diagnosing rare genetic diseases in children.
Genomics England has a follow-up programme, Cancer 2.0, which aims to extend the diagnostic potential of whole genome sequencing.
The programme will use the “long-read” technology developed by Oxford Nanopore, the UK sequencing company, to supplement the “short-read” technology from Illumina of the US that has been used so far.
Ian Walker, policy director of the charity Cancer Research UK, which did not take part in the study, said the 100,000 Genomes project had “assembled one of the largest data sets of this type, providing new insights about the complexity of different cancers”.
“The linkage of genomic and clinical data could enable researchers to develop novel therapeutics which can work in a more personalised way,” he added.
“Whole genome sequencing can be used as a single test to decide which drugs a cancer patient could benefit from,” said Trevor Graham, professor of genomics and evolution at London’s Institute of Cancer Research.
“This would replace a multitude of tests and could be a simpler, faster, and eventually cheaper way to make decisions about treatments. However, we will need to be training staff to ensure there is adequate resource.”
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