As the first patients join Genomics England’s cancer programme, what does the future look like for treatment and prevention?
Three sisters – all of whom developed different forms of breast cancer within little over a year – have recently become the faces of the cancer arm of the 100,000 Genomes Project, which has just begun recruiting cancer patients across England.
Answers in the genes?
Mary, Kerry and Sandra Lloyd received surgery, chemotherapy and radiotherapy, a gruelling programme of treatments that they describe as “horrendous”. The sisters have joined the project through the East of England Genomic Medicine Centre (GMC), but there are 13 NHS GMCs in all, recruiting patients from across England.
The Lloyd sisters hope to find out more about their genomes, especially whether they share a gene mutation that has predisposed them to breast cancer – and, if so, whether other family members could be at risk. It is possible that their cancers developed by sheer chance, but their presentation is strongly suggestive of an underlying familial risk.
By comparing their genomes with those of their tumours, and this information with that from thousands of other cancer patients and their tumours, it is hoped that cancer researchers may be able to make fresh discoveries about genetic changes involved in cancer. Mary told the BBC that investigations had not revealed any mutations in the well-known BRCA1 and BRCA2 genes, and so she and her sisters agreed to enrol in the project as “it could help to find a gene that hasn’t been identified yet”.
Steps towards genomic cancer medicine
Meanwhile, clinicians caring for patients like Mary and her sisters – who have their genomes sequenced and analysed as part of the project – could receive information important in determining not only the best available treatments for their patients, but also in some cases how to best advise and support their current and future family members.
The project is recruiting patients with sarcomas and tumours of the blood, breast, bowel and lung, as well as ovarian, prostate and renal tumours. Samples of both blood (to determine the patient’s genome sequence) and tumour tissue (to determine the tumour genome sequence) will be taken. The NHS GMCs are continually reviewing their protocols for tumour tissue handling, preparation and DNA extraction, as well as whole genome sequencing and analysis. Comparison of the two sequences from each patient reveals the genetic changes present in the tumour; identifying important mutations that drive tumour development can provide valuable information about disease risk and prevention, and in some cases will inform decisions about treatment.
Sir Harpal Kumar of Cancer Research UK, which is a partner for the project, said that patient recruitment was an important step, commenting: “The comprehensive mapping of patients’ DNA will reveal a vast amount of information that could help doctors and scientists develop new ways to prevent, diagnose and treat cancer more effectively in the future.”
Consultant clinical geneticist Dr Julian Barwell of the University Hospitals of Leicester NHS Trust, went further, saying it could even be “classed as the beginning of the end of chemotherapy”. In the meantime, hopefully it will make treatment less horrendous and more effective for patients, as well as helping cancer prevention.