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A study has suggested that more than 15,000 women each year in the UK with breast cancer would benefit from tests that analyze DNA for changes or mutations.
According to the researchers, obtaining a patient’s complete genetic information using whole genome sequencing could help guide personalized treatments and open recruitment to clinical trials.
Whole genome sequencing is a technology that allows doctors to look at a person’s entire genetic code from a blood test, looking for anything abnormal that could cause problems.
Currently in England, the NHS Genomic Medicine service is used to detect rare and inherited diseases, childhood cancers and some adult cancers.
However, experts from the University of Cambridge suggest that the program is “not being used to its full potential”.
For the study, researchers analyzed 2,445 breast cancer tumors collected from 2,403 patients from 13 NHS Genomic Medicine centers or hospitals associated with the 100,000 Genomes project led by Genomics England in partnership with NHS England.
The team looked for genetic changes that cause or affect breast cancer, such as problems in the way cells repair DNA.
According to the analysis, about 27% of breast cancer cases had genetic features that could support personalized treatment or recruitment into clinical trials.
researcher It is suggested this equates to more than 15,000 women per year in the UK.
Features identified in the tumors include DNA repair issues found in 12% of all breast cancers, known as HRD (homology-directed repair deficiency), as well as signs of resistance to hormone therapy, and unique mutations that can be targeted with drugs.
Professor Serena Nick-Zanal, from the Department of Genomic Medicine and the Early Cancer Institute at the University of Cambridge, said: “It is becoming increasingly possible to use whole genome sequencing to inform cancer management, but it is arguably not being used to its full potential, and certainly not for some of the more common types of cancer.
“Part of the reason for this is that we lack clinical studies to support its use, but it is also partly precisely because the information is so rich – in a sense, the information can be so overwhelming that it cannot make sense.”
The researchers said that while genomics “has begun to inform cancer management”, some argue that it “has not yet fulfilled the promise of personalized medicine”.
Currently, decisions on breast cancer treatment can be made by testing patients for the presence of certain gene mutations, such as BRCA1 and BRCA2.
However, experts highlight that a human cancer genome does not contain just one or two driver mutations, but thousands.
The researchers said the findings, published in The Lancet Oncology, “could massively open up recruitment” to clinical trials and personalized treatments for women with breast cancer.
“Currently, we only test patients for certain genetic mutations and if a patient has a mutation that matches the target of the test, we can invite them to join a clinical trial,” Professor Nick-Zainal said.
“But if we have their complete genetic readout, we will no longer be limited to single tests with a specific target.
“We can open up the possibilities for large-scale recruitment, for multiple clinical trials in parallel, making recruitment into clinical trials much more efficient, ultimately getting the right patients to the right treatment much faster.”
Professor Nick-Zainal said the UK is “a real world-leader in terms of the ability to carry out whole genome sequencing in the NHS through the Genomic Medicine service”.
He added: “Now that we have population-level evidence of how impactful whole-genome sequencing can be, we have the potential to make a difference to the lives of thousands of patients every year, helping to tailor their care more precisely, giving more treatment to those who need it and less treatment to those who don’t need it.”
Breast cancer is the most common cancer in the UK, with around 56,000 new cases each year.
Professor Matt Brown, Chief Scientific Officer of Genomics England, said: “Rapid advances in genomics are already ushering in the next generation of personalized cancer therapy.
“Not only can a patient’s genes guide precise treatment decisions that will best serve them, but we can improve the way we match people to clinical trials and help more patients access innovative treatments.
“Research like this highlights the value of the National Genomic Research Library and how understanding our genes can provide a real boost to the way we diagnose and treat disease.”
Dr Kotrina Temsinite, Senior Research and Impact Communications Head at the charity breast cancer nowSaid: “There are already some trials in place to help people with breast cancer ensure they get the most effective treatment for them.
“But this study points to a potential opportunity to develop even more precise, effective and personalized treatments over time for all people affected by breast cancer.”