A cancer patient in Wales, who had not reacted well to the standard cancer therapy, was facing a situation of having very limited treatment options available to them. Analysis of their cancer’s genomic data provided a new avenue of treatment.  Just before Christmas 2021, they were able to be recruited to a clinical trial for a new targeted therapy. Their latest imaging tests have shown that the cancer has shrunk in response to this new trial treatment. This is an excellent example of personalised treatment and highlights the value of genomics in improving care for cancer patients.

In 2019 the patient had received cancer surgery through the NHS in Wales after being diagnosed with colorectal cancer. They had gone to their GP with symptoms (of bleeding from the rectum), who referred them for endoscopy which was used to confirm the diagnosis. They received chemotherapy treatment but experienced an adverse reaction to the drug, meaning they had to stop receiving the treatment. Unfortunately, the patient had a relapse and the cancer spread to their lungs. A different chemotherapy treatment was unable to stop the disease progressing, leaving very few treatment options available to them.

At the point Wales Gene Park, working with the clinical genomics diagnostic lab in Wales (All Wales Medical Genomics Service) and the NHS clinical oncology team, analysed stored genomic data to identify patients potentially eligible to participate in a clinical trial for a new targeted cancer therapy.

The clinical trial is testing a new drug that specifically targets a rare genetic variant present in less than 5% of all colorectal cancers. Analysis of the patient’s cancer genomic data identified the required rare gene variant that meant they could take part in the trial. They started treatment as part of the trial, and recent check-ups have shown that the treatment appears to be working at these early stages.

This case demonstrates how re-analysis of clinical genomic data can lead to the identification of rare genetic variants which can sometimes enable patients to join clinical trials. In doing so, this allows the possibility of providing more personalised treatments that have the potential to improve outcomes for cancer patients.