Researchers have shown a single genetic test can be used alongside routine clinical data to find better cancer treatments.
In a landmark study of more than 13,000 patients in England, scientists discovered numerous ways sequencing a person’s genome could help tailor their care.
Almost all patients with brain tumours, and most with bowel or lung cancers, had DNA changes that might favour particular treatments over others.
Researchers also found valuable insights into sarcomas and ovarian cancer were also discovered during the study. Changes that could impact treatment decisions were spotted in about 10% of sarcomas, while the same proportion of ovarian cancers were shown to be likely inherited.
Whole genomic sequencing involves mapping all 3.2 billion letters that comprise a person’s DNA with a single test.
Researchers analysed each patient’s baseline genome as well as DNA from their tumours to get insight into mutations that might made them more likely to develop cancer, as well as how their cancer was developing.
England’s public health system, the National Health Service, wants to understand how genomic medicine can boost cancer care for the entire country. Research like this will help determine not only if personalised medicine can improve care, but how it can practically be delivered across the whole system.
Lessons from the study are already being put into practise in some areas, with one hospital trust in England’s East Midlands referring certain patients to clinical trials or avoiding treatments likely to give them bad side effects, according to the BBC.
“This study is an important milestone in genomic medicine. We are starting to realise the promise of precision oncology that was envisioned ten years ago when the 100,000 Genomes Project was launched,” researcher Dr Nirupa Murugaesu said in a statement.
“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,” the principal clinician for cancer genomics and clinical studies at Genomics England added.
“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.”
But some experts are more cautious about the impact of the research.
Although the results are “interesting,” Andrew Sharrocks, professor of molecular biology at the University of Manchester warned that whole genome sequencing would only really be useful in cases where appropriate treatments were on offer.
“One of the most important aspects [of the study is whether treatments are available for whatever genomic change is identified. If there are none available, then having all this information becomes a bit pointless,” he told the Science Media Centre.
Targeting sequencing accordint to treatment availability, he suggested, would be cheaper and “much easier to implement.”
Other kinds of changes to tumours, like epigenetic or protein level changes, can also have important ramifications for patients, he added. These areas might also be helpful for finding out the best way to personialise medicine.
The study was led by Genomics England, National Health Service England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust and the University of Westminster. It was published in the journal Nature Medicine.
Patients were recruited between 2015 and 2019 as part of the U.K’s 100,000 Genomes project. As well as cancer, this programme studies genetics could improve scientists’ understanding of rare diseases.
